Centers of Excellence

Contact Information:
BCH Bone Marrow Failure and MDS Program
Phone: 857-215-1312
Fax: 617-751-7046

 

Informational Site:
https://www.childrenshospital.org/conditions/dyskeratosis-congenita

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Suneet Agarwal, MD, PHD: Dr. Suneet Agarwal is dedicated to basic and translational research and clinical care in the area of telomere biology disorders (TBDs). Over the past 15 years, Dr. Agarwal has focused on evaluating and treating patients with dyskeratosis congenita (DC) and other TBDs. He developed and is the Overall Principal Investigator of a prospective, international multi-center BMT trial for DC/TBDs since 2012, which treated 40 patients on study and dozens more around the world off protocol. He co-founded the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) in 2013, an international collaborative of clinicians and scientists dedicated to advancing care for TBDs, and is co-editor of the TBD: Diagnosis and Management Guidelines. Dr. Agarwal’s research lab has discovered new genes and pathways involved in DC/TBDs, and the first small molecules that restore telomere length, which he is advancing to the clinic. He has served as a medical advisor for Team Telomere since 2011, and has been Chair of the Medical Advisory Board and member of the Board of Directors since 2020. 
• Dr. Akiko Shimamura, MD, PHD: Dr. Shimamura is Director of the Bone Marrow Failure and Myelodysplastic Syndrome Program and has evaluated and cared for several children with TBD.
• Dr. Grant Rowe, MD, PHD: Dr. Rowe is Director of the Bone Marrow Failure Clinic and has evaluated and cared for several children with TBD.
• Helen Reed, MD, MPH: Dr. Reed is trained in Internal Medicine and Pediatrics and is a Pediatric Hematologist with expertise in TBDs and other BMF syndromes. She is a clinical trialist and is the Principal Investigator for the “Nucleoside Therapy in Telomere Biology Disorders” study.

 

Bone Marrow Transplant Physician Information:

• Dr. Suneet Agarwal, MD, PHD: Dr. Suneet Agarwal is dedicated to basic and translational research and clinical care in the area of telomere biology disorders (TBDs). Over the past 15 years, Dr. Agarwal has focused on evaluating and treating patients with dyskeratosis congenita (DC) and other TBDs. He developed and is the Overall Principal Investigator of a prospective, international multi-center BMT trial for DC/TBDs since 2012, which treated 40 patients on study and dozens more around the world off protocol. He co-founded the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) in 2013, an international collaborative of clinicians and scientists dedicated to advancing care for TBDs, and is co-editor of the TBD: Diagnosis and Management Guidelines. Dr. Agarwal’s research lab has discovered new genes and pathways involved in DC/TBDs, and the first small molecules that restore telomere length, which he is advancing to the clinic. He has served as a medical advisor for Team Telomere since 2011, and has been Chair of the Medical Advisory Board and member of the Board of Directors since 2020. 
• Dr. Leslie Lehmann, MD: Dr. Lehmann served as Clinical Director of BMT at Boston Children’s Hospital, and has evaluated and performed BMT on several children with TBD in the past 25 years.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Dr. Benjamin Raby MD, MPH: Dr. Raby is a Professor of Pediatrics at Harvard Medical School, Chief of the Division of Pulmonary Medicine at Boston Children’s Hospital, and Director of the Pulmonary Genetics Centers at  Brigham and Women’s Hospital and Boston Children’s Hospital. Dr. Raby is an international expert in the genetics and genomics of both rare and common genetic disorders of the lung, and has substantial experience in the diagnosis and treatment of TBD in pediatric and adult patients. Dr.  Raby is a founding member of our TBD program’s scientific leadership.

 

Hepatologist and/or Liver Transplant Physician Information:

• Dr. Heung Bae Kim, MD: Dr. Kim is Surgical Director, Kidney, Liver, & Intestine and Multi-visceral Transplant Programs; Vice-Chair of Surgery for Clinical Operations; Director, Pediatric Transplant Center. He has evaluated and collaborated on the care of several children with liver disease due to TBDs.
• Dr. Silvia Nastasio, MD: Dr. Nastasio is an Attending Physician in Pediatric Hepatology and Liver Transplantation. She has evaluated and collaborated on the care of children with TBDs. She co-authored the Liver Transplantation chapter in the TBD Diagnosis and Management Guidelines, and contributed the BCH experience to the multi-center report of liver disease in TBD patients.

 

Gastroenterologist Information:

• Dr. Scott Snapper, MD, PHD: Dr. Snapper is Chief, Division of Gastroenterology, Hepatology and Nutrition; Director, Inflammatory Bowel Disease (IBD) Center. He leads a multi-institutional consortium on very-early onset IBD and has evaluated and collaborated on the care of several children with IBD due to TBDs.
• Dr. Rachel Rosen, MD, MPH: Dr. Rosen is Director, Aerodigestive Center. She is an expert in GI motility disorders and has evaluated several children with TBDs.
• Victor Fox, MD: Victor Fox is Director Emeritus, Gastrointestinal Endoscopy. He has expertise in the endoscopic evaluation and care of children with TBDs and Coats plus.

 

Dermatologist Information:

• Dr. Jennifer Huang, MD: Dr. Huang is Section Chief, Dermatology; Director, Pediatric Oncodermatology. She has evaluated and collaborated on the care of several children with TBDs and co-authored publications on skin manifestations in TBDs. She is also an expert in the evaluation and care of skin GVHD post-BMT.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. Nathaniel Treister, DMD: Dr. Treister is the Chief of the Division of Oral Medicine and Dentistry at Brigham and Women’s Hospital (BWH) and consulting staff member of Boston Children’s Hospital. He has evaluated and collaborated on the care of several children and adults with TBDs, including oral mucosal surveillance, management of pre-malignant and malignant oral lesions, and has authored manuscripts on oral manifestations in TBDs. He is an expert in the care and management of oral GVHD.

 

Genetic Counselor Information:

• Dr. Gwen Muscato, MS, CGC: Gwen Muscato is Genetic Counselor, Dana-Farber/ Boston Children’s Cancer and Blood Disorders Center. She has evaluated and collaborated on the care of several children and families with TBDs referred to the BMF program, and sees all referrals and provides counseling for TBD genetics and telomere length evaluation.
• Katie Regan, CGC: Katie Regan is an adult and pediatric certified genetic counselor at both the Brigham and Women’s Hospital and Boston Children’s Hospital with  expertise in the genetics of rare lung disease. As the lead genetic  counselor at the Pulmonary  Genetics Centers at Brigham and Women’s Hospital and Boston Children’s  Hospital, Katie has extensive experience counseling and evaluating  patients and families affected by TBD.

 

Social Worker Information:

• Mei Swartz, LCSW: Mei Swartz is a social worker providing care for patients and families seen in the BMF program, and has cared for TBD patients.

 

Additional specialists at center:

 

Interventional Radiology and Vascular Anomalies: 

• Dr. Ahmad Alomari, MD, MSc, FSIR: Dr. Alomari is Chair in Interventional Radiology & Vascular Anomalies; Co-Director, Vascular Anomalies Center. He has evaluated and cared for several children with TBDs, including diagnosis and management of hepatopulmonary syndrome.

 

Ophthalmology/Vitreoretinal surgery

• Dr. Efren Gonzalez, MD: Dr. Gonzalez is Pediatric Vitreoretinal Surgeon and Director, Pediatric Retina Program. He has evaluated and performed vision-sparing surgery for several children with retinopathy due to TBDs. He performs baseline surveillance and follow-up for retinal disease for patients with TBDs.

 

Additional specialty service involved in the evaluation and care of patients with TBDs at BCH over the past decade include pediatric immunology, cardiology, orthopedic surgery, neurology, nephrology, neurosurgery, urology, nutrition, palliative care, hematopathology, and liver pathology.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam 
• Laser photocoagulation and vitreoretinal surgery
• Fibroscan

​

Contact Information: 

Contact Email: [email protected] 

 

Informational Site: 

www.chop.edu

 

Center Lead: Timothy Olson, MD PhD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Timothy Olson, MD PhD: Hematologist, Cancer Predisposition Specialist, and Stem Cell Transplant Director, CHOP. Associate Professor of Pediatrics, University of Pennsylvania. Dr. Olson has extensive experience in the management of care for patients with telomere biology disorders for over 16 years.  Specialty expertise in bone marrow failure, MDS, and stem cell transplant aspects of care for patients with TBD’s, in addition to familiarity with the broad range of multispecialty needs that patients require.  My clinic utilizes the medical home model of care for patients with TBD’s, and thus we ensure that patients are able to see all subspecialties required.  I have been part of DC Outreach/Team Telomere for over a decade, and have participated in a large number of collaborations, both for research and for advocacy. 
• Dr. Julia Warren, MD PhD: Hematologist and Cancer Predisposition Specialist, CHOP.  Assistant Professor of Pediatrics, University of Pennsylvania. Dr. Warren joined CHOP in the Fall of 2022 after being an integral part of the BMF and cancer predisposition program at Washington University in St. Louis. She has years of experience in managing BMF, MDS, and cancer screening in patients with TBD’s. 

 

Bone Marrow Transplant Physician Information:

• Dr. Timothy Olson, MD PhD: Hematologist, Cancer Predisposition Specialist, and Stem Cell Transplant Director, CHOP. Associate Professor of Pediatrics, University of Pennsylvania. Dr. Olson has extensive experience in the management of care for patients with telomere biology disorders for over 16 years.  Specialty expertise in bone marrow failure, MDS, and stem cell transplant aspects of care for patients with TBD’s, in addition to familiarity with the broad range of multispecialty needs that patients require.  My clinic utilizes the medical home model of care for patients with TBD’s, and thus we ensure that patients are able to see all subspecialties required.  I have been part of DC Outreach/Team Telomere for over a decade, and have participated in a large number of collaborations, both for research and for advocacy. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Lisa R. Young, MD: Chief, Division of Pulmonology, Professor of Pediatrics University of Pennsylvania. Dr. Young has two decades of experience, spanning Cincinnati Children’s, Vanderbilt, and now CHOP, with clinical and research interests in patients with interstitial lung diseases, including patients with TBD’s.  
• Sharon McGrath-Morrow MD: Expertise in Ataxia-Telangiectasia and ILD
• Maureen Josephson, DO: Specializes in lung transplantation 

 

Hepatologist and/or Liver Transplant Physician Information:

• Elizabeth Rand, MD: Medical Director of the CHOP Liver Transplant Program and Professor of Pediatrics, University of Pennsylvania. Dr. Rand has been a leader of CHOP’s Hepatology and  Liver Transplant Program for decades and in this capacity has experience in diagnosing liver disease and in coordinating liver transplants for patients with TBD’s. The liver transplant team is coordinated with surgeons based out of the University of Pennsylvania, but will operate in coordination with follow-up care at CHOP for pediatric cases.  
• Kathleen Loomes, MD: Director of the Fred and Suzanne Biesecker Pediatric Liver Center at CHOP, and Professor of Pediatrics, University of Pennsylvania. Dr. Loomes shares extensive experience with Dr. Rand in managing pediatric patients with liver diseases through many modalities, including liver transplant. 

 

Gastroenterologist Information:

• Petar Mamula, MD: Director of the GI Nutrition and Diagnostic Center at CHOP, and is Professor of Pediatrics at the University of Pennsylvania. Dr. Mamula’s clinical and research areas of expertise specifically involve pioneering and using state of the art GI endoscopic techniques to diagnose and manage esophageal, stomach, and colonic diseases.  He specifically has performed many esophageal dilations and colonoscopy evaluations for patients with TBD’s.  
• Additional endoscopic experts in the CHOP GI program include Alexandar Coe and Mike Manfredi.
• Additional experts in intestinal dysmotility include Jenn Webster and Prasanna Kaparavapu.

 

Dermatologist Information:

We work with several members of our Dermatology team for management of patients with TBD’s.

• Dr. James Treat, MD: Fellowship Director of Pediatric Dermatology at CHOP and an Associate Professor of Clinical Pediatrics and Dermatology at the University of Pennsylvania. Specializes in complex medical dermatology and has significant experience in managing the many dermatologic manifestations of TBD’s.  

 

Otolaryngologist and/or Oral Medicine specialist Information:

The CHOP Division of Otolaryngology is a large division comprising breadth of expertise relevant to patients with TBD’s, including interventions for sensorineural/conductive hearing loss, airway surgeries, nasolaryngoscopy screening, and biopsy/definitive surgery for head/neck cancer. Thus, the pattern of referral for patients with TBD’s depends on the issue at hand.

• Connor Devine, MD: Attending Physician and Assistant Professor of Clinical Otorhinolaryngology at the University of Pennsylvania. He is an expert in cancer screening using nasolaryngoscopic techniques as well as in head/neck tumor surgery. He has seen many patients with bone marrow failure disorders for routine screening and management, including patients with TBD’s.
• Dr. Takako Tanaka: Specializes in rare oral cancer screening and resection.  

 

Genetic Counselor Information:

CHOP has an extensive network of genetic counselors (GC), with GC’s from both the Cancer Predisposition Program in the Division of Oncology as well as the Bone Marrow Failure Program in the Division of Hematology possessing expertise for patients suspected to have TBD’s or in whom counseling and family testing is recommended.  

• Cancer Predisposition Program GC’s: Kristin Zelley and Mary Egan Clark 
• Bone Marrow Failure/Hematology GC’s: Jen Borowka 

 

Social Worker Information:

CHOP has an extensive network of social workers across the various subspecialty care that is required by patients with TBD’s. Alissa Feirson, Oncology and Bone Marrow Transplant and Abigail Coin, hematology have served as the lead social workers for many patients with TBD’s at CHOP over the past 8 years.

• Alissa Feirson: Oncology and Bone Marrow Transplant, has served as the lead social worker for many patients with TBD’s at CHOP over the past 6 years.
• Abby Coin

 

Additional specialists at center:

 

Ophthalmology

Drew Scoles, MD PhD: Trained at the prestigious Scheie Eye Institute in Philadelphia and is an Assistant Professor of Ophthalmology at CHOP and the University of Pennsylvania. He specializes in retinal diseases of childhood and sees patients with TBD for intraocular therapies to halt progression of retinopathy.  

 

Endocrinology

Sogol Mostoufi-Moab, MD: Dual certified in Pediatric Hematology/Oncology and Pediatric Endocrinology. She is the Research Director of the CHOP Survivorship Program, and an Associate Professor of Pediatrics at the University of Pennsylvania. She has an extensive clinical and research background in investigating the Endocrinologic complications of cancer therapy and bone marrow transplantation, and has long-standing expertise in the Endocrinologic complications of TBD’s and other BMF disorders. 

 

Reproductive Health services are shared with the University of Pennsylvania through the CHOP Oncology Survivorship Program and The Penn Fertility program. In addition CHOP has an extensive palliative care team as well as many surgical oncologists.  

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology
• Lung Transplantation
• Routine screening elastography
• Hematology/BMT: Targeted genomic diagnostics, including germline testing, peripheral blood NGS screening and in house somatic mutation and cytogenetic testing. Our BMT program runs state of the art graft engineering protocols (TCRab depletion and/or CD45RA depletion) to minimize risks of GVHD following transplant. 
• Pulmonary: State of the art, in house pulmonary function testing and a world leading pediatric lung transplant program. 
• Hepatology: One of the pre-eminent liver transplant programs in the U.S. Access to hepatobiliary interventionists on site, including GI and IR trained specialists.  
• Retinal: In addition to fluorescein angiography, multiple modalities of intravitreal treatments are available including avastin injections, laser therapy, and other vitreoretinal procedures.  

Contact Information: 

Call Bone Marrow Failure coordinator at 513.636.3570

 

Informational Site: 

Bone Marrow Failure | Bone Marrow Transplant (cincinnatichildrens.org)

 

Center Lead: Dr. Kasiani Myers

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

Bone marrow failure disorders including telomere biology disorders are followed in the comprehensive bone marrow failure clinic at CCHMC within the Division of Bone Marrow Transplantation and Immune Deficiency.

• Dr. Stella Davies: Dr. Davies is a professor and the Division Director of the Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center, specializes in the diagnosis and treatment of bone marrow failure disorders, and has extensive clinical and research experience with patients with telomere biology disorders.
• Dr. Kasiani Myers: Dr. Kasiani Myers is an Associate Professor of Pediatrics in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center within the University of Cincinnati Department of Pediatrics. In her clinical practice, she specializes in treating patients with bone marrow failure and hematopoietic stem cell transplant for non-malignant diseases, with a special emphasis on Telomere Biology disorders. Her research focuses on translational and clinical studies in leukemogenesis and bone marrow failure including in Telomere Biology disorders as well as complications of stem cell transplant. She is active within the Telomere Biology research consortium, serving on the Executive Leadership Committee and leading several TBD studies including a retrospective study of liver disease in TBD and a gene therapy trial for telomere elongation in adults with TBD and was the local principal investigator of the radiation and alkylator free multicenter transplant trial.
• Dr. Parinda Mehta: Dr. Mehta is a Professor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders.
• Dr. Jane Koo: Dr. Koo is an assistant professor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders. Recently Dr. Koo has started investigations into skeletal complications of Telomere Biology disorders.
• Dr. Zahra Huddha: Dr. Huddha is an instructor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders. Additionally, she is the Principal investigator of an NK cellular therapy trial for patients with refractory AML for which patients with telomere biology disorders are eligible.
• Dr. Christine Phillips: Dr. Phillips is an associate professor in the Division of Oncology at Cincinnati Children’s Hospital Medical Center and is the Medical Director of Oncology and the CART and immunotherapy program. She has extensive clinical experience with patients with telomere biology disorders and other radiation and chemotherapy sensitive populations. 

 

Bone Marrow Transplant Physician Information:

• Dr. Stella Davies: Dr. Davies is a professor and the Division Director of the Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center, specializes in the diagnosis and treatment of bone marrow failure disorders, and has extensive clinical and research experience with patients with telomere biology disorders.
• Dr. Kasiani Myers: Dr. Kasiani Myers is an Associate Professor of Pediatrics in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center within the University of Cincinnati Department of Pediatrics. In her clinical practice, she specializes in treating patients with bone marrow failure and hematopoietic stem cell transplant for non-malignant diseases, with a special emphasis on Telomere Biology disorders. Her research focuses on translational and clinical studies in leukemogenesis and bone marrow failure including in Telomere Biology disorders as well as complications of stem cell transplant. She is active within the Telomere Biology research consortium, serving on the Executive Leadership Committee and leading several TBD studies including a retrospective study of liver disease in TBD and a gene therapy trial for telomere elongation in adults with TBD and was the local principal investigator of the radiation and alkylator free multicenter transplant trial.
• Dr. Parinda Mehta: Dr. Mehta is a Professor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of in bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders.
• Dr. Jane Koo: Dr. Koo is an assistant professor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders. Recently Dr. Koo has started investigations into skeletal complications of Telomere Biology disorders.
• Dr. Zahra Huddha: Dr. Huddha is an instructor in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center who specializes in the diagnosis and treatment of bone marrow failure disorders and has extensive clinical experience with patients with telomere biology disorders. Additionally, she is the Principal investigator of an NK cellular therapy trial for patients with refractory AML for which patients with telomere biology disorders are eligible.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Dr. Christopher Towe: Dr. Towe is an associate professor in the Division of Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center and is the Director of the Rare Lung Disease program including lung transplantation. He has extensive clinical experience with patients with telomere biology disorders.
• Dr. Gregory Burg: Dr. Burg is an associate professor in the Division of Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center and has extensive clinical experience with patients with telomere biology disorders.
• Dr. William Hardie: Dr. Hardie is a professor in the Division of Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center and is a physician scientist with a basic laboratory focused in pulmonary fibrosis. He has extensive clinical experience with patients with telomere biology disorders.
• Dr. Kristen Ruff: Dr. Kristen Ruff is an associate professor in the Division of Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center and has extensive clinical experience with patients with telomere biology disorders.

 

Hepatologist and/or Liver Transplant Physician Information:

• Dr. Alex Miethke: Dr. Miethke is an associate professor in the Division of Pediatric Gastroenterology, Hepatology and Nutrition at Cincinnati Children’s Hospital Medical Center and is the Director of the Liver transplant program. He has extensive clinical experience with patients with telomere biology disorders and participated in the multicenter retrospective effort to document liver complications and outcomes of liver transplant in patients with Telomere biology disorders
• Dr. Amy Taylor: Dr. Taylor is an assistant professor in the Division of Pediatric Gastroenterology, Hepatology and Nutrition at Cincinnati Children’s Hospital Medical Center and is focused in hepatology. She has extensive clinical experience with patients with telomere biology disorders and a research interest in liver fibrosis.

 

Gastroenterologist Information:

• Dr. Phillip Putnam: Dr. Putnam is a professor in the Division of Pediatric Gastroenterology, Hepatology and Nutrition at Cincinnati Children’s Hospital Medical Center and is the Director of Endoscopic services. He has extensive clinical experience with patients with telomere biology disorders.
• Dr. David Vitale: Dr. Vitale is an assistant professor in the Division of Pediatric Gastroenterology, Hepatology and Nutrition at Cincinnati Children’s Hospital Medical Center and is the Director of Interventional Endoscopy Center and the Pancreas Care Center. He has extensive clinical experience with patients with telomere biology disorders.

 

Dermatologist Information:

• Dr. Kalyani Marathe: Dr. Marathe is an associate professor and Division Director of Dermatology at Cincinnati Children’s Hospital Medical Center. She has clinical experience with patients with telomere biology disorders.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. Michael Rutter: Dr. Rutter is a professor in the Division of Pediatric Otolaryngology – Head and Neck Surgery at Cincinnati Children’s Hospital Medical Center and is the Director of Clinical Research and Director of the Aerodigestive Center. He has extensive clinical experience with patients with telomere biology disorders.
• Dr. Catherine Hart: Dr. Hart is a professor in the Division of Pediatric Otolaryngology – Head and Neck Surgery at Cincinnati Children’s Hospital Medical Center. She has extensive clinical experience with patients with telomere biology disorders.

 

Genetic Counselor Information:

• Ms. Sarah Knapke: Ms. Knapke is a Licensed Genetic Counselor in the Division of Human Genetics and is the Clinical Manager of the Division of Human Genetics. She has a clinical focus in hereditary cancers and has extensive clinical expertise in patients with telomere biology disorders.

 

Social Worker Information:

• Katie Brinker LSW, MSW: Ms. Brinker is a Licensed Social Worker with a masters in social work within the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center and has extensive clinical experience with patients with telomere biology disorders.

 

Additional specialists at center:

 

Dental

• Dr. Bobbi S. Thikkurissy: Dr. Thikkurissy is the Division Director of Pediatric Dentistry and Orthodontics at CCHMC. He specializes in the care of patients after stem cell transplantation and has extensive clinical expertise in patients with telomere biology disorders

 

Endocrinology

• Dr. Jonathan Howell: Dr. Howell is an assistant professor in the Division of Endocrinology at Cincinnati Children’s Hospital Medical Center. He has a clinical focus in inherited bone marrow failure disorders and late effects of oncology and stem cell transplant. He has clinical experience with patients with telomere biology disorders.

 

Gyn

• Dr. Lesley Breech: Dr. Breech is a professor in the University of Cincinnati Departments of Surgery and Obstetrics and Gynecology. She is the Division Director of the Division of Pediatric and Adolescent Gynecology at Cincinnati Children’s Hospital Medical Center. She has a clinical focus in inherited bone marrow failure disorders and fertility preservations. She has clinical experience with patients with telomere biology disorders.

 

Immunology

• Dr. Sharat Chandra: Dr. Chandra is an assistant professor in the Division Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center with a focus on rare immunodeficiencies. He has extensive clinical experience with patients with telomere biology disorders.

 

Nutrition

• Ms. Cyndi Taggart: Ms. Taggart is a registered dietician in the Division of Nutrition Therapy at Cincinnati Children’s Hospital Medical Center with a focus on nutrition for patients undergoing stem cell transplantation. She has extensive clinical experience with patients with telomere biology disorders.

 

Ophthalmology 

• Dr. Leah Owen: Dr. Owen is the Division Director of Pediatric Ophthalmology at CCHMC. She specializes in the care of patients with retinal disease and has clinical expertise in patients with telomere biology disorders

 

Urology

• Dr. Pramod Reddy: Dr. Reddy is a professor in the University of Cincinnati Department of Surgery and Division Director of Pediatric Urology at Cincinnati Children’s Hospital Medical Center. He has clinical experience with patients with telomere biology disorders.
• Dr. Andrew Strine: Dr. Strine is an assistant professor in the University of Cincinnati Department of Surgery and in the Division of Pediatric Urology at Cincinnati Children’s Hospital Medical Center. He is Co-Director of the Comprehensive Fertility Care and Preservation Program and has clinical experience with patients with telomere biology disorders.
• Dr. Bob DeFoor: Dr. DeFoor is a professor in the University of Cincinnati Department of Surgery and Division Director of Pediatric Urology at Cincinnati Children’s Hospital Medical Center. He is Director of Clinical Research and has clinical experience with patients with telomere biology disorders.

 

Surgical Oncology

• Dr. Roshni Dasgupta: Dr. Dasgupta is a professor in the University of Cincinnati Department of Surgery and Division of Pediatric General and Thoracic Surgery at Cincinnati Children’s Hospital Medical Center. She is Director of Quality Improvement and Surgical Director Vascular Malformations Clinic. She has a clinical and research focus in oncology and vascular tumors. She has clinical experience with patients with telomere biology disorders.
• Dr. Meera Kotagal: Dr. Kotagal is an assistant professor in the University of Cincinnati Department of Surgery and Division of Pediatric General and Thoracic Surgery at Cincinnati Children’s Hospital Medical Center. She is the Director of Trauma Services. She has clinical experience with patients with telomere biology disorders.
• Dr. Juan Pablo-Gurria: Dr. Pablo-Gurria is an assistant professor in the University of Cincinnati Department of Surgery and Division of Pediatric General and Thoracic Surgery at Cincinnati Children’s Hospital Medical Center. He is the Director of Surgical Critical Care and Surgical Director of the Pancreas Care Center. He has clinical experience with patients with telomere biology disorders.
• Dr. Alex Bondoc: Dr. Bondoc is an assistant professor in the University of Cincinnati Department of Surgery and Division of Pediatric General and Thoracic Surgery at Cincinnati Children’s Hospital Medical Center. He has a clinical and research focus on liver transplantation and liver tumors. He has clinical experience with patients with telomere biology disorders.

 

Palliative Care

• Dr. Mark Meyer: Dr. Meyer is an associate professor in the University of Cincinnati Department of Anesthesia and Division of Anesthesia at Cincinnati Children’s Hospital Medical Center. He is the Medical Director of the Pediatric Palliative and Comfort Care Team and has clinical experience with patients with telomere biology disorders.
• Dr. Brittany Whitford: Dr. Whitford is a staff physician in the Division of Anesthesia at Cincinnati Children’s Hospital Medical Center. She has clinical experience with patients with telomere biology disorders.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

Additional imaging evaluations are available such as T2* MRI for iron deposition evaluation, hepatic ultrasound with ARFI or hepatic MRI Ferriscan to assess for liver fibrosis, Hyperpolarized Xenon MRI to assess pulmonary function and fibrosis, fertility preservation program for adult and pediatric male and female patients including pre-pubertal options, dental assessments and treatment.  Eye and retinal exams are also available.  Specialized retinal diagnostics and treatment are done in collaboration with a local retinal specialist.

​

Contact Information: 

Email Richa Sharma at [email protected]

Informational Site: 

https://my.clevelandclinic.org/

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Richa Sharma: I have cared for patients with bone marrow failure and TBD since my fellowship training at St Jude which started in 2018. I have focused on caring for TBD patients since 2021 as an instructor in Department of Hematology at St Jude. I discovered RPA1 as a TBD gene and established MDM4 as a bone marrow failure and potentially TBD gene. Since starting at Cleveland Clinic (CC) in January 2025, I have taken on caring for pediatric and adult patietns with TBD and have connected patients to adult sub-specialties when appropriate. I have started a National DNA Repair and Telomere Biology Disorder Tumor Board at Cleveland clinic this year, which spans institutions and sub-specialities. I continue to see pediatric and adult patients with BMF, TBD and DNA repair disorders in my weekly clinic at CC. Importantly, my lab works on telomere biology maintenance mechanisms in TBD and cancer. I have attended several telomere related conferences including EMBO and CSHL telomere meetings, Team telomere meetings and presented my work at ASH. I also have collaborations with other telomere biologists and investigators who work on TBD.
• Jarslow Maciejewski: Dr. Maciejewski has experience in genotype:leukemia correlation, CH in patients with TBD mutations, collaborations with other TBD experts.
• Hetty Carraway: Dr. Carraway sees patients with MDS/AML and TBD, very active in care pathways for patients with TBD and MDS/AML.
• Seth Corey: Dr. Corey has over 20 years of experience seeing patients with BMF and TBD.

 

Bone Marrow Transplant Physician Information:

• Rabi Hanna: Dr. Hanna is the director of pediatric hem/onc/BMT division and head of BMT; robust experience in transplanting patients with BMF, TBD and sickle cell disease.
• Seth Rotz: Dr. Rotz is a BMT and leukemia physician; key role in the Cleveland Clinic National DNA repair and Telomere Biology Disorder tumor board.
• Claudio Brunstein: Dr. Brunstein is an adult BMT physician who has experience in transplanting benign hematologic diseases and is leading the start of continuity clinic for all inherited BMF disorders, including TBD across the pediatric and adult ages.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Marie Budev: Dr. Budev is the medical Director of one of the largest lung transplant and heart-lung transplant programs in the country at CCF with expertise in post transplant care in patients with TBD; She also gave a talk at the 2025 Micro Meeting at Mayo Clinic.
• Brian Southern: Dr. Southern is a pulmonologist who sees all TBD patients at CCF with pulmonary fibrosis, started pulmonary telomere monthly clinic at CCF this year.

 

Hepatologist and/or Liver Transplant Physician Information:

• Dian Chiang: Dr. Chiang has 15 years of experience in hepatology and is the contact person for management of adult TBD patients, works closely with liver transplant physician Dr. Koji Hashimoto.
• Kadakkal Radhakrishnan: Dr. Radhakrishnan is a pediatric gastroenterologist and hepatologist who has been involved in the care of pediatric patients with TBD and hepatic/GI manifestations at CC.

 

Gastroenterologist Information:

• Florian Rieder: Dr. Rieder is an adult gastroenterologist, physician scientist and expert in inflammatory bowel disease with an interest in TBD features that are akin to IBD. He has helped evaluate esophageal motility issues in TBD patients.
• Kadakkal Radhakrishnan: Dr. Radhakrishnan is a pediatric gastroenterologist and hepatologist who has been involved in the care of pediatric patients with TBD and hepatic/GI manifestations at CC.

 

Dermatologist Information:

• Joan Tamburro: Dr. Tamburro is a pediatric dermatologist with knowledge and experience in TBD skin manifestations.
• Gowri Kabbur: Dr. Kabbur is an adult and pediatric dermatologist with interest in TBD.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Eric Lamarre: Dr. Lamarre is the section head of head and neck cancer at CC, point of contact for TBD patients with ENT cancers and surveillance.
• Natalie Silver: Dr. Silver is a head and neck oncology surgeon, active member for the DNA repair and TBD tumor board and has helped manage difficult ENT SCC case presented by NCI.

 

Genetic Counselor Information:

• Brittany Stewart and Holly Greer: Both Brittany and Holly are GC at CCF who work closely with adult and pediatric hematology/oncology/pulmonology to provide genetic counseling to patients and families with TBD. Both have also attended several Team Telomere meetings.
• Cancer Genetics Staff

 

Social Worker Information:

• Brittany Sustin and other social workers: Incredibly talented and resourceful social worker at CC who will be helping with the needs of families and patients with TBD.

 

Additional specialists at center:

 

• John McDonnell: Pediatric immunologist who has helped with several TBD related cases in pediatric and adults seen by me. Interest in rare disorders.
• Andrea Mucci: Pediatric endocrinologist and point contact for TBD-associated endocrine dysfunction in patients with TBD.
• Chad Michener: Point of contact for all gyn onc concerns in rare diseases and will be the point of contact for TBD patients.
• Elias Traboulsi: Point of contact for ophthalmological problems.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Eye and Retinal Exam
• Laser photocoagulation
• Vitreoretinal surgery
• Dental assessments

​

Contact Information: 

For any patient with a known or presumed telomere biology disorder who would like a consultation or to establish care at our center, please contact Michelle Vera, Senior Secretary, at 718-470-3703 to make an appointment at our Pediatric Hematology office (regardless of patient age). Our Bone Marrow Failure Program provides comprehensive care for patients with telomere biology disorders, and will provide referrals to other specialists as appropriate.

 

Informational Site: 

https://pediatrics.northwell.edu/departments-services/pediatric-hematology-oncology

 

Center Lead: Alexandra Satty, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

Pediatric:

• Jeffrey Lipton, MD, PhD: Dr. Jeffrey Lipton is an expert in bone marrow failure syndromes with many decades of clinical care and research experience. He is the Chief of Pediatric Hematology/Oncology and Stem Cell Transplantation at Cohen Children’s Medical Center, and Professor of Pediatrics at the Zucker School of Medicine at Hofstra/Northwell. He has cared for many patients with telomere biology disorders throughout his career and has a strong interest in advancing care for this patient population.
• Alexandra Satty, MD: Dr. Alexandra Satty is an attending physician at Cohen Children’s Medical Center specializing in Stem Cell Transplantation and Cellular Therapy and Bone Marrow Failure. Dr. Satty works closely with the interdisciplinary team at CCMC to provide comprehensive care to patients with telomere biology disorders and other bone marrow failure syndromes.
• Carolyn Fein Levy, MD: Dr. Carolyn Fein Levy serves as head of the solid tumor program at CCMC. She specializes in rare tumors and cancer predisposition syndromes.
• Gina Melone, FNP: At the start of my career I was a bedside nurse in adult hematology/oncology for almost 2 years. Then, I was an ambulatory nurse in pediatric hematology/oncology for 3 years. I am now a family nurse practitioner in pediatric hematology/oncology and more specifically, am the bone marrow failure nurse practitioner. Because of my role, I take a special interest in patients with telomere biology disorders. Their diseases can often be complex and the patients and families require highly individualized care. It is incredibly important that they receive help in coordinating appointments with various specialties, managing their medications, and overcoming any obstacles they may face in their care. It is my priority to ensure that these patients receive the highest quality of care possible.

 

Adult:

• Steven Allen, MD: Dr. Steven Allen has had an active clinical interest in the role played by telomere biology in various bone marrow failure states and in the potential to use telomerase inhibitors as treatment for disorders such as myelodysplastic syndrome. He has a research interest in telomere biology and its role in chronic lymphocytic leukemia with two papers published in Blood (PMID: 14504108, 22875913).

 

Stem Cell Transplant Physician Information:

• Jonathan Fish, MD: Dr. Jonathan Fish is the Head of Stem Cell Transplantation and Cellular Therapy at Cohen Children’s Medical Center. For the past five years, he has specialized in stem cell transplantation for patients with bone marrow failure syndromes. Since 2022, he has served as the primary transplant attending for several patients with dyskeratosis congenita – including Hoyeraal-Hreidarsson syndrome.
• Alexandra Satty, MD: Dr. Alexandra Satty is an attending physician at Cohen Children’s Medical Center specializing in Stem Cell Transplantation and Cellular Therapy and Bone Marrow Failure. Dr. Satty works closely with the interdisciplinary team at CCMC to provide comprehensive care to patients with telomere biology disorders and other bone marrow failure syndromes.
• Michelle Lee, MD, PhD: My interest in utilizing hematopoietic stem cell transplantation (HSCT) to treat non-malignant diseases is long-standing. Advancing this field has included gaining expertise in HSCT for immunodeficiencies, hemoglobinopathies, and bone marrow failure disorders. At Boston Children’s Hospital/Dana-Farber Cancer Institute, as an early attending physician, I obtained the title Clinical Expert in Transplantation for Non-Malignant Diseases. There I served as the transplant physician for many patients with telomere biology disorders who underwent transplantation with standard of care therapy or on a clinical trial. Later, during my time at the Children’s Hospital at Montefiore, Bronx, NY, I built a Bone Marrow Failure program with a talented physician assistant. Adding structure to our practice allowed us to identify patients with telomere biology disorders rapidly. We offered transplantation to those with bone marrow failure and, since hematologic challenges are only one aspect of TBD, ensured assessment and monitoring of non-hematologic manifestations of TBD before and after transplantation. Finally, at Cohen Children’s Medical Center in Queens, NY, I aim to provide support to my colleague Dr. Alexandra Satty who cares for patients with TBD undergoing transplantation. I am fortunate to have had the opportunity to care for patients with this challenging condition and am glad to work in a transplant program that can provide exceptional and expert care to them and their families throughout their journeys.
• Yonatan Diamond, MBBS: I am a pediatric hematologist–oncologist with international training in bone marrow transplantation and gene therapy, working as part of a multidisciplinary team dedicated to caring for children with complex bone marrow failure syndromes, including telomere biology disorders. I am passionate about advancing collaborative, patient-centered care that bridges emerging science with meaningful outcomes for children and their families with telomere biology disorders.

 

Pulmonologist and/or Lung Transplant Physician Information:

Pediatric:

• Maria Teresa Santiago, MD

 

Adult:

• Arunabh Talwar, MD

 

Hepatologist and/or Liver Transplant Physician Information:

Pediatric:

• Shari Sheflin, DO

 

Adult:

• Nitzan Roth, MD, PhD

 

Gastroenterologist Information:

Pediatric:

• Benjamin Sahn, MD: Dr. Benjamin Sahn serves as the co-director of the Pediatric Inflammatory Bowel Disease Center at Cohen Children’s Medical Center. He has experience treating patients with very early onset inflammatory bowel disease associated with dyskeratosis congenita as well as graft versus host disease in children with telomere biology disorders after transplant.

• Julie Gallagher, MD: Dr. Gallagher has received specialized training for the diagnosis, treatment and management of patients with inborn errors of immunity affecting the gastrointestinal tract, including those with telomere biology disorders. She continues to amass experience with patients diagnosed with telomere biology disorders which includes interpretation of endoscopic evaluation and related histology, and use of subsequent immune modifying therapies for treatment of immune dysregulation and inflammation.

 

Dermatologist Information:

Pediatric: 

• Nika Finelt, MD: As a pediatric dermatologist, Dr. Nika Finelt identifies and treats skin pathology, including those of patients with telomere biology disorders. This includes caring for and potentially identifying individuals with dyskeratosis congenita.

 

Otolaryngologist and/or Oral Medicine specialist Information:

Pediatric:

• Catherine Geller, MD
• Joshua Silverman, MD, PhD

Dr. Catherine Geller and Dr. Joshua Silverman both specialize in pediatric otolaryngology. They have significant experience caring for pediatric patients with complex sinusitis including patients who are immunocompromised, patients with genetic syndromes, patients with cystic fibrosis, and patients at elevated risk for malignancies and/or with history of malignancy. 

 

Adult:

• Douglas Frank, MD

 

Oral Medicine and Dental Pathology:

• John Fantasia, DDS

• Kathleen Schultz, DMD

 

Genetic Counselor Information:

• Ariella Reiter, MS, CGC: Ariella Reiter, MS, CGC is the genetic counselor for the Bone Marrow Failure (BMF) Program at Cohen Children’s Medical Center. Genetic counseling embedded within our BMF program ensures our continued focus on groundbreaking medicine in the TBD space. When a TBD is suspected, the genetic counselor meets with the patient to gather the medical and family history, explain the genetic testing, purpose, and process, and obtain informed consent from the patient/parents. Once results return, the genetic counselor interprets and discloses the results, connects the family to condition-specific resources, and is available anytime to help support the family with any questions or concerns that may arise.

 

Social Worker Information:

• Joan Allison Marquardt, LMSW: Allison Marquardt, LMSW, has over 12 years of experience in the social work field and joined CCMC two years ago, bringing her deep commitment to patient-centered care. She is passionate about supporting individuals with telomere biology disorders as they navigate complex systems, connect with essential resources, and build the tools needed for long-term success. Allison is dedicated to providing compassionate emotional support, particularly during the most challenging moments of her patients’ journeys.
• Janette Marsac, LCSW: Janette Marsac, LCSW works to support individuals and families affected by telomere biology disorders, helping them navigate complex medical systems and care planning. Her role includes connecting patients with specialized resources, advocating for their needs, and providing emotional support as they manage the uncertainty and chronic nature of their condition.

 

Note: 

Cohen Children’s Medical Center (CCMC) is part of the Northwell Health system, which, since the last application cycle, has expanded beyond New York State into Connecticut and is now comprised of 28 hospitals, numerous specialty programs, and more than 1,000 ambulatory and physician practices. As a result of the vast nature of this healthcare system, there are very few resources not available at our center.

However, if a situation were to arise in which a patient needed a management modality not available at our center, CCMC would take advantage of its close proximity to New York City where there are multiple elite academic medical institutions with a comprehensive range of testing, surveillance, and therapeutic modalities. For any TBD patient needing testing, surveillance, or therapy at an outside institution, the team lead and/or other relevant practitioner(s) would find an institution at which it is available, necessary information on how to arrange the required care would be passed on to the patient, and assistance would be provided as necessary by the CCMC team.

 

Additional specialists at center:

Ophthalmology: 

• Sylvia Kodsi, MD: Dr. Sylvia Kodsi has not only provided ophthalmologic care for patients with telomere biology disorders, but has also authored a case report describing the development of late exudative retinopathy in a patient with dyskeratosis congenita (PMID: 30170046)

 

Pediatric Endocrinology: 

• Benjamin Nwosu, MD: Dr. Benjamin Nwosu is the Chief of Pediatric Endocrinology at Cohen Children’s Medical Center. He has previously conducted basic science experiments on telomere shortening with aging at the National Institute of Health. His publication showed that mouse telomeres do not shorten with aging (PMID: 15795509).

 

Adult Endocrinology: 

• Stuart Weinerman, MD: Dr. Stuart Weinerman is a medical endocrinologist at Long Island Jewish Medical Center who has extensive experience with rare bone diseases.

 

Pediatric Neurology: 

• Sanjeev Kothare, MD

 

Nutrition: 

• Joel Rosh, MD: Dr. Joel Rosh is the Chief of Pediatric Gastroenterology, Liver Diseases and Nutrition at Cohen Children’s Medical Center. He leads a team of physicians and registered dieticians who have familiarity in managing the nutritional complications of telomere biology disorders.

 

Reproductive Endocrinology (Male): 

• Bruce Gilbert, MD, PhD

 

Reproductive Endocrinology (Female): 

• Randi Goldman, MD: Dr. Randi Goldman is a specialist in reproductive endocrinology and infertility at Northwell Health. She has extensive experience in counseling and performing fertility preservation procedures for patients prior to receiving chemotherapy or undergoing transplantation.

 

Pediatric Surgical Oncology:

• Richard Glick, MD
• Barrie Rich, MD

 

Adult Surgical Oncology: 

• Matthew Weiss, MD

 

General Pediatrics, Complex Medical Care: 

• Sophia Jan, MD, MS: Dr. Sophia Jan is a Med-Peds trained physician specializing in the primary care of children and adults with complex medical conditions, including telomere biology disorders. She serves as Medical Director of the Health Homes Serving Children Program for Northwell Health, a care management program for pediatric patients with complex medical or behavioral health needs.

 

Psychology: 

• Amy Nadel, PhD
• Julie Schimel, PsyD

Dr. Amy Nadel and Dr. Julie Schimel are attending psychologists in the Division of Pediatric Hematology/Oncology and Stem Cell Transplantation. Specifically, Dr. Nadel and Dr. Schimel act as liaisons to the Hematology/Cellular Therapy program and work with patients with complex hematologic disorders and other bone marrow failure syndromes. They provide consultation, assessment, and individual, parenting, group and family interventions in both medical inpatient and outpatient settings. 

 

Immunology

• Vincent Bonagura, MD

 

Gynecology

• Rula Kanj, MD: Dr. Rula Kanj is a Pediatric and Adolescent Gynecologist at Cohen Children’s Medical Center. She has a longstanding history of collaborating with other pediatric subspecialists in order to provide exceptional comprehensive, multidisciplinary healthcare. She has worked closely with the Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, including the Bone Marrow Failure Program, in the past to care for patients with a variety of underlying disorders (including bone marrow failure syndromes).

 

Palliative Care

• Lawrence Wolfe, MD: Dr. Lawrence Wolfe is board certified in both Pediatric Hematology/Oncology and Hospice and Palliative Medicine. He has many decades of experience in caring for patients with hematologic disorders, including telomere biology disorders, and has provided palliative care services for many patients and their families throughout this time period.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Endoscopy
• Hematopoietic cell transplantation
• Interventional Radiology
• Nasolaryngoscopy
• Esophagogram
• Contrast echocardiography
• Liver Transplantation
• Lung Transplantation

 

The following relevant monitoring modalities and treatments are available at our center:

• Dental assessments
• Eye and retinal exam
• Laser photocoagulation
• Vitreoretinal surgery

 

In addition, through the extensive resources offered by the Northwell Health system, patients cared for at CCMC have access to many additional monitoring modalities and treatments in addition to those listed above.

Contact Information: 

CUIMC Interstitial Lung Disease Program: 

Phone: 212-305-8203

Fax 212-205-8426 

 

Lung transplant contact

Intake Coordinators:

Maggie Bernard 212-305-4881

Victoria Trinidad 212-305-9618

 

Email: [email protected]

Fax: 212-342-1087

 

Informational website: 

https://www.columbiadoctors.org/specialties/lung-breathing-disorders/our-services/interstitial-lung-disease-ild

 

Specialists available at center: 

 

Pulmonology/Interstitial Lung Disease (ILD) Physician Information:

• Claire McGroder: Dr. McGroder has been the director of CUIMC’s Interstitial Lung Disease (ILD) Program since 2023 and is the co-director of the Telomere Biology Disorders Program. She actively manages care for numerous adults with ILD and short telomeres and has helped to develop the center’s clinical guidelines for diagnosis and treatment for individuals with TBDs. Her clinical and translational research has focused on gaining a better understanding of the earliest stages of pulmonary fibrosis and uncovering clinical, biologic and genomic risk factors. She is the PI for numerous Phase 2 and 3 clinical trials for individuals with pulmonary fibrosis.
• Christine Garcia, MD PhD: Dr. Christine Kim Garcia is the Frode-Jensen Professor of Medicine at Columbia University Irving Medical Center and she is the Chief of Pulmonary, Allergy and Critical Care Medicine Division within the Department of Medicine, a member of the Center for Precision Medicine and Genomics and an affiliate of the Institute for Genomic Medicine. She is an internationally-recognized expert in telomere biology and its relationship to pulmonary fibrosis. Her laboratory studies the genetic basis of lung disease, including pulmonary fibrosis.
• David Zhang, MD MS: Dr. Zhang is a clinician-researcher with a focus on interstitial lung disease. His research is focused on conducting genetic analyses of rare and common variants from genomic sequencing data of patients with idiopathic pulmonary fibrosis (IPF), including seminal discoveries of KIF15 as a novel IPF candidate gene. He also studies interactions of rare variants and polygenic risk in IPF and has led highly original studies identifying clinically relevant genetic endotypes of disease defined by rare and common variation.

 

Pulmonology/Lung Transplant Physician Information: 

The Lung Transplant Team at New York-Presbyterian/Columbia University Irving Medical Center provides comprehensive care for patients with telomere biology disorders (TBD) throughout the lung transplant continuum. As one of the nation’s highest-volume lung transplant programs, the team routinely incorporates telomere length testing into transplant evaluation and delivers coordinated, multidisciplinary care before and after transplantation.

Through close collaboration with other TBD specialists, the program develops individualized treatment strategies that address the complex pulmonary and extrapulmonary manifestations of TBD. The team’s expertise includes managing multi-organ complications after transplantation, with careful tailoring of immunosuppressive regimens and treatment of other complex post-transplant issues. The program also has extensive experience caring for highly complex patients, including those requiring multiorgan transplantation, and actively participates in multicenter clinical research, clinical trials, and quality improvement initiatives to advance care for patients with advanced lung disease and telomere biology disorders.

• Kemarut Laothamatas, MD – Co-Director, NYP-CUIMC Telomere Biology Disorders Program; Transplant Pulmonologist
• Selim Arcasoy, MD, MPH – Medical Director,NYP- CUIMC Lung Transplant Program
• Luke Benvenuto, MD – Associate Medical Director, NYP-CUIMC Lung Transplant Program
• Lori Shah, MD – Transplant Pulmonologist
• Hilary Robbins, MD – Transplant Pulmonologist
• Harpreet Grewal, MD – Transplant Pulmonologist
• Gabriela Magda, MD – Transplant Pulmonologist

 

Hematology Physician Information:

• Andrew Eisenberger, MD: Dr. Eisenberger is an Associate Professor of Medicine and is a clinical expert in difficult to manage bleeding and clotting disorders as well as hematologic complications of solid organ transplantation and myeloproliferative neoplasms. He is routinely involved in the hematologic evaluation of pre-lung and liver transplant patients with short telomeres.

 

Bone Marrow Transplant Physician Information:

• Ran Reshef, MD: Dr. Reshef is a Professor of Medicine and the Director of Translational Research, Blood and Marrow Transplantation Program. His lab combines efforts in both basic research and clinical investigation to advance the understanding of immune responses following hematopoietic stem-cell transplantation and other forms of cell therapy.

 

Hepatology and Liver Transplant Physician Information:

• Julia Wattacheril, MD MPH: Dr. Wattacheril is an Associate Professor of Medicine, a physician scientist, inventor and director of the Metabolic Dysfunction Associated Steatotic Liver Disease (MASLD) program at Columbia University Irving Medical Center. Her clinical and translational work spans the multidisciplinary care of MASLD patients at all stages of their disease to the investigation of rare genetic variants influencing the development and progression of MASLD before and after liver transplantation.

 

Gastroenterologist Information:

• Sydney Pomenti, MD: Dr. Pomenti is an Assistant Professor of Medicine and is highly specialized in esophageal diseases, including esophageal motility studies, and gastrointestinal motility disorders. She is frequently involved in the pre- and post- lung transplant care for individuals with esophageal dysmotility and esophageal stenosis, including those seen in patients with TBDs. 

 

Dermatologist Information:

• Stephanie Gallitano, MD: Dr. Gallitano is an Assistant Professor of Clinical Dermatology. Dr.Gallitano’s unique areas of interest include treating patients with dermatologic conditions related to their history of solid organ transplantation, cancer-treatment-related skin reactions, skin reactions that occur during hospitalization, and autoimmune/autoinflammatory skin disease. She also cares for patients with cutaneous skin infections or skin diseases related to immunosuppression.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Salvatore Caruana, MD: Dr. Caruana is an Associate Clinical Professor of Otolaryngology and Head and Neck Surgery and the Director of the Division of Head and Neck Surgery. He is a widely respected surgeon in the forefront of the surgical treatment of tumors of the mouth pharynx, larynx and sinuses, parathyroid surgery, thyroid gland, and salivary glands. He is a pioneer in laser microsurgery for pharyngeal and laryngeal cancers. 

 

Genetic Counselor Information:

• Liv Palma, MS CGC: Liv Palma is a board-certified genetic counselor in the Center for Precision Medicine and Genomics at Columbia University Irving Medical Center. Her clinical and research interests include a range of genetics specialties including rheumatology, nephrology, pulmonology, hematology, and endocrinology. She is actively involved in genetic counseling related to TBD’s. 

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• Bronchoscopy
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Interventional pulmonology

Contact Information: 

Reach out to this center by: 

1. Filling out the request form online: https://www.dana-farber.org/request-appointment 
2. Calling: 877-442-3324
3. Emailing: [email protected] 

 

Informational Site: 

https://www.dana-farber.org/cancer-care/types/bone-marrow-failure-syndromes 

 

Center Lead: Christopher R. Reilly, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Christopher R. Reilly, MD: Dr. Reilly is a clinical-translational researcher at Dana-Farber Cancer Institute and board-certified in Hematology/Oncology. Dr. Reilly’s clinical and research expertise in TBD led to the establishment of a multidisciplinary program for the care and study of pediatric and adult patients with TBD in partnership with Dr. Suneet Agarwal, Dr. Benjamin Raby, and Dr. Coleman Lindsley. The program provides comprehensive multispeciality care and incorporates leading-edge technologies in the diagnosis, monitoring, and treatment of patients with TBD. The DFCI TBD Program was designated as a Tier 1 Center of Excellence in 2024.

Dr. Reilly’s research focuses on functional characterization of germline telomere maintenance gene variants to enhance genetic variant interpretation and the biological mechanisms linking impaired telomere maintenance and the pathogenesis of myeloid malignancies. Dr. Reilly has been a member of the Team Telomere MAB since 2024 and TRACTS Chair since 2026.

• R Coleman Lindsley, MD, PhD: Dr. Lindsley is an Associate Professor of Medicine at Harvard Medical School and independent investigator at Dana-Farber. Dr. Lindsley is an international expert in the germline and somatic genetics of telomere biology disorders and myeloid malignancies. A central focus of his lab is understanding the effect of germline genetic variants and impaired telomere maintenance on the risk of myeloid malignancies. 
• Daniel J DeAngelo, MD, PhD: Dr. DeAngelo is a Professor of Medicine at Harvard Medical School and the Chief of the Division of Leukemia at Dana-Farber. Dr. DeAngelo is an international expert in the biology and treatment of hematologic malignancies. Dr. DeAngelo was instrumental in establishing the Dana-Farber Telomere Biology Disorder Program in 2020.
• Richard M Stone, MD: Dr. Stone is a Professor of Medicine at Harvard Medical School and the Director of Translational Research in the Adult Leukemia Program. Dr. Stone’s work has revolutionized the treatment of acute myeloid leukemia. Dr. Stone has decades of experience in the diagnosis and management of TBD in adults.
• Marlise R Luskin, MD, MSCE: Dr. Luskin is an Associate Professor of Medicine at Harvard Medical School and Educational Director in the Adult Leukemia Program. Dr. Luskin has extensive experience in the biology, diagnosis, and management of adult patients with TBD.
• Frederick D Tsai, MD, PhD: Dr. Tsai is a hematologist-oncologist at Dana-Farber and completing his postdoctoral fellowship in the Lindsley Lab. Dr. Tsai’s research focuses on the mechanisms linking impaired telomere maintenance, clonal hematopoiesis, and progression to myeloid malignancies.
• Ilene Galinsky, NP: Ilene Galinsky is a Nurse Practitioner in the Dana-Farber Adult Leukemia Program who has decades of experience treating patients with hematologic malignancies and conducting prospective clinical trials. Ilene will be instrumental in future therapeutic trials for our patients with TBD.
• Patrice O’Sullivan, NP: Patrice O’Sullivan is a Nurse Practitioner in the Dana-Farber Adult Leukemia Program with several years of experience in caring for medical complex patients with germline predisposition to bone marrow failure and leukemia, including patients with TBD.

 

Bone Marrow Transplant Physician Information:

• Robert J Soiffer, MD: Dr. Soiffer is a Professor of Medicine at Harvard Medical School, Chief of the Division of Hematologic Malignancies, and Vice Chair of the Department of Medical Oncology at Dana-Farber. Dr. Soiffer has several decades of experience in stem cell transplantation for adult patients with TBD.
• Joseph H. Antin, MD: Dr. Antin is a Professor of Medicine at Harvard Medical School and international expert in stem cell transplantation and inherited bone marrow failure syndromes. Over the past 4 decades, Dr. Antin has cared for many pediatric and adult patients with TBD and made substantial contributions to the TBD literature.
• Corey Cutler, MD, MPH: Dr. Cutler is a Professor of Medicine at Harvard Medical School and Director of the Adult Stem Cell Transplantation Program at Dana-Farber. Dr. Cutler has extensive experience in performing stem cell transplants in adult patients with TBD.
• Vincent T. Ho, MD: Dr. Ho is an Associate Professor of Medicine at Harvard Medical School and Director of Clinical Operations for Stem Cell Transplantation at Dana-Farber. Dr. Ho has extensive experience in performing stem cell transplants in adult patients with TBD.
• Amar H. Kelkar, MD: Dr. Kelkar is an Instructor in Medicine at Harvard Medical School and a physician in the Adult Stem Cell Transplantation Program at Dana-Farber. Dr. Kelkar trained under the mentorship of Dr. Soiffer, Dr. Antin, Dr. Cutler, and Dr. Ho, and he has a clinical and research interest in TBD.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Benjamin Raby MD, MPH: Dr. Raby is a Professor of Pediatrics at Harvard Medical School, Chief of the Division of Pulmonary Medicine at Boston Children’s Hospital, and Director of the Pulmonary Genetics Centers at Brigham and Women’s Hospital and Boston Children’s Hospital. Dr. Raby is an international expert in the genetics and genomics of both rare and common genetic disorders of the lung, and has substantial experience in the diagnosis and treatment of TBD in pediatric and adult patients. Dr. Raby is a founding member of our TBD program’s scientific leadership. 
• Sheryl Ann Chicoine, RPSGT: Sheryl serves as Patient Navigator for the Brigham and Women’s Hospital Pulmonary Genetics Center, coordinating same-day patient visits with both Pulmonary and Hematology providers, diagnostic testing needs, and obtaining medical records, imaging studies, and pathology materials from outside hospitals.
• Hilary J. Goldberg, MD: Dr. Goldberg is an Assistant Professor of Medicine at Harvard Medical School and Clinical Director of the Division of Pulmonary and Critical Care Medicine at Brigham and Women’s Hospital. Dr. Goldberg has substantial expertise in the management of pulmonary manifestations of TBD including lung transplantation.

 

Hepatologist and/or Liver Transplant Physician Information:

• Stephen D Zucker, MD: Dr. Zucker is an Associate Professor of Medicine at Harvard Medical School and hepatologist at Brigham and Women’s Hospital. Dr. Zucker has significant experience in the diagnosis and management of liver complications of TBD. 
• Emily Bethea, MD: Dr. Bethea is the Medical Director of the MGB Liver Transplantation Program.
• Eric M. Przybyszewski, MD: Dr. Przybyszewski is a liver transplant specialist in the MGB Liver Transplantation Program.

 

Our adult patients with TBD who need a liver transplant are evaluated at the Massachusetts General Brigham (MGB) Liver Transplant Program which spans both the Massachusetts General Hospital and the Brigham and Women’s Hospital.

 

Gastroenterologist Information:

• Stephen D Zucker, MD: Dr. Zucker is an Associate Professor of Medicine at Harvard Medical School and gastroenterologist at Brigham and Women’s Hospital. Dr. Zucker has significant experience in the diagnosis and management of GI complications of TBD.
• Andrea Reid, MD, MPH: Dr. Reid is a board-certified gastroenterologist and hepatologist at Mass General Brigham. Additionally, she is the Associate Dean for Student and Multicultural Affairs and Director of the Office of Recruitment and Multicultural Affairs at Harvard Medical School.
• Emilie Mitten, MD: Dr. Mitten is an Instructor in Medicine at Harvard Medical School and a board-certified gastroenterologist and hepatologist at Mass General Brigham.

 

Dermatologist Information:

• Sherrie Divito, M.D., Ph.D.: Dr. Divito is an Instructor in Dermatology at Harvard Medical School. Dr. Divito is an experienced dermatologist with expertise in the cutaneous manifestations of TBD.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Nathaniel S Treister, DMD, DMSc: Dr. Treister is a Professor of Oral Medicine, Infection, and Immunity at the Harvard School of Dental Medicine, Chief of the Division of Oral Medicine and Dentistry at Brigham and Women’s Hospital, and Clinical Director for Oral Medicine and Oral Oncology at Dana-Farber. Dr. Treister has extensive expertise in the oral complications of TBD.

 

Genetic Counselor Information:

• Anuradha Chittenden, CGC: Anu Chittenden is an adult genetic counselor and Manager of Genetic Counselors at Dana-Farber. Anu has significant experience in the genetic evaluation of patients and families affected by TBD.
• Jill Stopfer, CGC: Jill Stopfer is an adult genetic counselor and Associate Director of Genetic Counseling at Dana-Farber. Jill has significant experience in the genetic evaluation of patients and families affected by TBD.
• Alexandria Cabrera, CGC: Allie Cabrera is an adult genetic counselor at Dana-Farber with specific clinical and research expertise in inherited bone marrow failure and leukemia predisposition syndromes. She has significant experience in the genetic evaluation of patients and families affected by TBD.
• Kayla Hamilton, MS, CGC: Kayla Hamilton is pediatric genetic counselor with specific clinical and research expertise in inherited bone marrow failure and leukemia predisposition syndromes. She has significant experience in the genetic evaluation of patients and families affected by TBD.
• Katelyn (Katie) Breen, CGC: Katie is an adult genetic counselor at Dana-Farber with expertise in inherited bone marrow failure and leukemia predisposition syndromes. She has significant experience in the genetic evaluation of patients and families affected by TBD.
• Katie Regan, CGC: Katie is an adult and pediatric certified genetic counselor at both the Brigham and Women’s Hospital and Boston Children’s Hospital with expertise in the genetics of rare lung disease. As the lead genetic counselor at the Pulmonary Genetics Centers at Brigham and Women’s Hospital and Boston Children’s Hospital, Katie has extensive experience counseling and evaluating patients and families affected by TBD. 

 

Social Worker Information:

Dana-Farber has a robust team of licensed social workers who are available to help with the specific needs of our patients with TBD.

 

Additional specialists at center:

 

Maternal Fetal Medicine:

• Nicole A. Smith, MD, MPH: Dr. Smith is an Assistant Professor at Harvard Medical School and Maternal-Fetal Medicine physician. Dr. Smith has substantial experience in managing high-risk pregnancies as well as a clinical interest in caring for patients with TBD.
• Emily S. Reiff, MD: Dr. Reiff is an Clinical Instructor  at Harvard Medical School and Maternal-Fetal Medicine physician. Dr. Reiff has substantial experience in managing high-risk pregnancies including patients with TBD.

 

Supportive Oncology

The Dana-Farber Department of Supportive Oncology is composed of five divisions including adult palliative care, adult psychosocial oncology, adult social work, pediatric palliative care, and pediatric psychosocial oncology.

 

Nutrition Services: 

Dana-Farber has a robust team of nutritionists and dietitians with experience in addressing the nutritional needs of medically complex patients.

 

Pharmacy

Dana-Farber has both an outpatient and specialty pharmacy and our pharmacy staff provide assistance with insurance benefits, prior authorizations, and copay/financial assistance programs.

 

Zakim Center for Integrative Therapies and Healthy Living

The Leonard P. Zakim Center for Integrative Therapies and Healthy Living at Dana-Farber is dedicated to the belief that patients can enhance their quality of life through integrative therapies such as acupuncture and massage, and healthy living programs such as exercise and nutrition counseling.

 

Dana-Farber and the Brigham and Women’s Hospital have a wide spectrum of additional specialties available to patients in our programs as needed including: Allergy/Immunology, Ophthalmology, Endocrinology, Neurology, Rheumatology, Reproductive Endocrinology, Urology, General Surgery, Surgical Oncology, Radiation Oncology, and Interventional Radiology. 

 

Monitoring modalities and treatments available at center: 

• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Blood tests (including CBC, liver function tests, etc.)
• Contrast echocardiography
• Endoscopy
• DXA scan
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Interventional Radiology
• Nasolaryngoscopy
• Liver Transplantation

Our program has an in-house custom blood-based DNA next generation sequencing platform (Rapid Heme Panel) that is utilized to detect and monitor somatic blood mutations in TBD patients.

Contact Information: 

Mayo Clinic, Minnesota hematology appointment office #507-284-5363

Mayo Clinic, Arizona, hematology appointment office #408-515-6296

 

Informational Site: 

www.mayoclinic.org 

 

Center Lead: Dr. Mrinal M. Patnaik

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

Pediatric

• Mira A. Kohorst: Dr. Kohorst specializes in bone marrow failure syndromes, including telomere biology disorders. She is also the Director of Pediatric Blood and Marrow Transplantation and has expertise in transplanting these conditions. Dr. Kohorst also works very closely with the adult TBD team to help provide the most comprehensive care, especially for adolescents and young adult patients. 
• Anand Srinivasan:  specializes in allogeneic transplantation for non-malignant hematology conditions. His clinical practice and expertise is in caring for pediatric patients with TBD and pursuing bone marrow transplantation for children diagnosed with TBD and other non-malignant hematological conditions. . 
• Ahmad Al-Huniti: Dr. Ahmad Al-Huniti specializes in non-malignant hematology, focusing on bone marrow failure syndromes and telomere biology disorders. He serves as the director of non-malignant hematology and collaborates closely with both the pediatric bone marrow transplant team and the adult TBD team. 

 

Adult

• Mrinal M. Patnaik: As a hematologist and the principal investigator on the telomere biology disorders (TBD) bio-specimen repository and natural history study, I have played an important role in establishing a TBD program at Mayo Clinic, enterprise wide. I personally see patients with TBD and have developed protocols for their diagnosis and management. I am a member of the team telomere executive committee and work closely with my colleagues at Mayo Clinic to advance clinical, translational, and basic science research in telomere biology disorders.
• Abhishek A. Mangaonkar: I am an adult hematologist and bone marrow transplant physician and scientist at Mayo Clinic. My clinical expertise and research interests are focused on bone marrow failure syndromes, including TBD. I am one of the physicians that staffs the specialized clinic designed for patients with TBD. I am also actively involved in both clinical and translational research projects in the telomere biology field, specifically to understand and characterize the adult phenotype of TBD, mechanisms of clonal escape and optimize bone marrow transplantation as a treatment for TBD patients. My current projects include benchmarking the natural history of adult-onset TBD and studying the biological underpinnings of somatic myeloid clonal evolution (specifically, SF3B1 mutation and ring sideroblasts) in TBD. In addition, I am working to develop a clinical trial protocol for allogeneic bone marrow transplant in TBD with hematological malignancies and for those with lack of traditional donor options (mismatched or haploidentical donors). 
• Yael Kusne: I am an adult hematologist at Mayo Clinic focusing on pre-myeloid, myeloproliferative, germline predisposition disorders and TBD. My research involves clonal hematopoiesis and the potential for progression to malignant hematologic neoplasms. I am part of the TBD Clinic in Mayo Clinic Arizona where I see patients who are suspected of having TBD and assist in diagnosis. I also see patients already diagnosed with TBD for evaluation of their hematologic phenotype both prior to and after diagnosis of bone marrow failure.
• Surbhi Shah: I am a classical hematologist and site medical director of the TBD clinic at Mayo Clinic Arizona. I am actively involved clinically in seeing patients with TBD as part of the work up for peripheral blood cytopenia, additionally I collaborate with my colleagues in pulmonary medicine for further evaluation and management of patients who have been diagnosed with TBD in our Idiopathic Pulmonary Fibrosis (IPF) clinic or undergoing lung transplant evaluation.
• Juliana Perez Botero, M.D.: I am a hematologist specializing in laboratory diagnostics at Mayo Clinic. My clinical and research interests include the optimization of laboratory testing based on integration of phenotype and genotype data in patients with known or suspected non-malignant hematologic disorders. As a clinician working exclusively in a clinical laboratory, I aim to provide avenues for effective communication between patients, clinicians and laboratories to address the testing needs in a field that is continuously and rapidly changing. I am involved in the sign-out of the clinical bone marrow failure NGS panel and lead the bimonthly Mayo Clinic pre-myeloid interdisciplinary meeting. 
• Tariq Kewan M.D.: I am an adult hematologist at Mayo Clinic with clinical and research interests focused on TBDs, bone marrow failure syndromes, clonal hematopoiesis, and myeloid malignancies. I am actively involved in specialized clinical programs dedicated to patients with TBDs, clonal hematopoiesis, and suspected germline predisposition to hematologic disorders. My research focuses on understanding the adult clinical presentation and natural history of TBDs, mechanisms of clonal evolution and marrow failure, and developing precision diagnostic, prognostic, and translational approaches for patients with inherited and acquired hematologic disorders.

 

Bone Marrow Transplant Physician Information:

• Mrinal M. Patnaik: As a hematologist and the principal investigator on the telomere biology disorders (TBD) bio-specimen repository and natural history study, I have played an important role in establishing a TBD program at Mayo Clinic, enterprise wide. I personally see patients with TBD and have developed protocols for their diagnosis and management. I am a member of the team telomere executive committee and work closely with my colleagues at Mayo Clinic to advance clinical, translational, and basic science research in telomere biology disorders.
• Abhishek A. Mangaonkar: I am an adult hematologist and bone marrow transplant , a physician scientist at Mayo Clinic. My clinical expertise and research interests are focused on bone marrow failure syndromes, including TBD. I am one of the physicians that staffs the specialized clinic designed for patients with TBD. I am also actively involved in both clinical and translational research projects in the telomere biology field, specifically to understand and characterize the adult phenotype of TBD, mechanisms of clonal escape and optimize bone marrow transplantation as a treatment for TBD patients. My current projects include benchmarking the natural history of adult-onset TBD and studying the biological underpinnings of somatic myeloid clonal evolution (specifically, SF3B1 mutation and ring sideroblasts) in TBD. In addition, I am working to develop a clinical trial protocol for allogeneic bone marrow transplant in TBD with hematological malignancies and for those with lack of traditional donor options (mismatched or haploidentical donors). 
• Ajoy Dias: I am a physician scientist, an adult hematologist and bone marrow transplant physician at Mayo Clinic. My clinical expertise and research interests include germ line predisposition to myeloid malignancies particularly GATA2 haploinsufficiency syndrome, RUNX1 and DDX41 mutated myeloid malignancies. I see patients with germline marrow failure syndromes and myeloid neoplasms. Allogeneic bone marrow transplant for bone marrow failure syndromes is one of my areas of expertise. I am developing an allogeneic bone marrow transplant protocol for patients with germline malignancies. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Eva M. Carmona: I am a physician-scientist with expertise in immunology and lung fibrosis. I am the director of the interstitial lung disease (ILD) clinic at Mayo Clinic Rochester and in collaboration with the Center for Individualized Medicine I have led the implementation of telomere and genetic evaluation to these patients. My basic research and clinical expertise in the field of immunology and lung fibrosis as well as genetic understanding of ILD disorders has been crucial to establishing a practice change in the diagnosis and management of lung fibrosis, specially to the diagnosis of TBD. As part of the TBD specialty clinic, we have implemented the evaluation of telomere length and genetic testing as part of routine clinical practice. 
• Ana C. Zamora Martinez: I am the medical director of the interstitial lung disease clinic and the pulmonology expert in the TBD specialty clinic at Mayo Clinic Arizona. I closely collaborate with my colleagues from other specialties across all Mayo Clinic sites ensuring that patients receive the best care available. I am especially interested in expanding our clinical care to TBD patients from diverse populations. The increased diversity of patients seen at Mayo Clinic Arizona, which includes mostly African Americans and Hispanics, will be critical to achieve this goal.
• Kelly Pennington: As a lung transplant physician at Mayo Clinic, my focus on TBD is rooted in extensive training from Mayo Clinic and the Toronto lung transplant program. I have spearheaded the development of protocols tailored specifically for lung transplants in TBD patients for the Mayo Clinic enterprise and have actively contributed to research elucidating optimal treatment strategies. Presently, I am working on a comprehensive retrospective analysis of Mayo Clinic’s TBD lung transplant cases, aiming to refine our approach and solidify our position as a leading center for TBD care.
• Cassie Kennedy: I am a Professor of Medicine with a joint appointment in Health Care Delivery Science. I authored > 115 peer reviewed publications and my lung transplant research is funded by the NIH NHLBI. I serve as the Medical Director of Lung Transplant at Mayo Clinic Rochester and the Lung Transplant Convergence Chair for the Mayo Clinic Enterprise. With a 2023 total lung transplant volume of 74 recipients, the Mayo Clinic continues to lead the way on lung transplantation for our patients with TBD as a significant proportion of recipients have this syndrome. Under my leadership, a multi-disciplinary TBD protocol was developed and approved by the Mayo Clinic Enterprise lung transplant program. 

 

Hepatologist and/or Liver Transplant Physician Information:

Pediatric

• Nawras Habash M.B.B.S: I am a pediatric hepatologist at Mayo Clinic. My clinical and research efforts focus on rare hepatic disorders, with particular emphasis on mechanisms driving hepatic fibrosis and the role of genetic and epigenetic factors in liver disease. I am part of a multidisciplinary clinical group that cares for patients with telomere biology disorders. During my training, I cared for patients with telomere biology disorders, including those undergoing bone marrow and liver transplantation. This experience continues to inform my work at the interface of rare liver disease and systemic conditions that influence hepatic outcomes.
• Samar H. Igrahim M.B., Ch.B: I am a pediatric transplant hepatologist and physician-scientist at Mayo Clinic. My clinical and research efforts focus on pediatric liver disease, with particular expertise in metabolic dysfunction–associated steatotic liver disease (MASLD),  genetic and cholestatic liver diseases, immune-mediated  liver disease, Porto sinusoidal vascular disorders, liver transplantation, and rare hepatic disorders. I lead a translational research program investigating the cellular and molecular mechanisms of liver injury, inflammation, fibrosis, and cholangiopathies, with a focus on identifying novel therapeutic targets and biomarkers.  My research program also study the vascular pathobiology of the liver. My work integrates clinical care, basic science, and collaborative translational research to improve outcomes for children with liver disease. 

 

Adult

• Doug Simonetto: I am a transplant hepatologist with expertise in portal hypertension and liver manifestations of TBD. My clinical and research focus is on understanding the bidirectional relationship between telomere dysfunction and chronic liver diseases. I have helped create protocols for assessment of liver disease in patients with TBD and served as the lead author of the chapter on hepatic complications of TBD [Chapter-18-Hepatic-Complications (teamtelomere.org)] in the second edition of the Telomere Biology Disorders: Diagnosis and Management Guidelines. 
• Blanca C. Lizaola-Mayo: As a transplant hepatologist, I have had the opportunity to treat patients with end stage liver disease and underlying TBD. At Mayo Clinic in Arizona, we have been able to create a multidisciplinary group to better manage this underdiagnosed disease. TBD is a rare disease, often misunderstood and underdiagnosed. I have had the pleasure to collaborate with great clinicians and together learn from this disease and its diverse clinical variants. From a hepatology perspective, I am excited to continue to grow this clinic and offer better care and awareness about TBD.
• Patrick Kamath: I am a transplant hepatologist within the Transplant Center at Mayo Clinic in Rochester, Minnesota. My primary clinical interests include complications of cirrhosis, alcohol related liver disease, polycystic liver disease, Fontan Associate Liver Disease, and vascular diseases of the liver. I have coauthored several publications focused on the hepatic manifestations and liver transplant outcomes of patients with Telomere Biology Disorders (TBD). I have been a contributor of the TBD Specialty Clinic since the early stages of the program.  

 

Gastroenterologist Information:

• Adam Bledsoe: I am a gastroenterologist with experience in the management of celiac disease, clinical trials, complex endoscopy, and the evaluation/management of rare immune-mediated enteropathies. I have worked with patients with TBD, managing the intestinal inflammation, esophageal strictures, and endoscopic therapies of vascular lesions. 

 

Dermatologist Information:

• Nessa Aghazadeh Mohandesi: I am an assistant professor of dermatology at Mayo Clinic, and fellowship trained in pediatric dermatology. I run the genetic skin disease clinic at the Department of Clinical Genomics, which is dedicated to comprehensive multidisciplinary care of children and adults with rare diseases including those affected by TBD. I have both clinical and research interests in the skin manifestations and complications of TBD.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Elizabeth T. Kunkel MPAS, P.A.-C.: I am a PA in ENT head and neck surgery at Mayo Clinic, where I have practiced for over nine years. My clinical work spans both the operating room and outpatient setting, with a focus on the care of patients with a wide range of head and neck cancers. Throughout my career, I have been involved in the care and screening of immuno-compromised patients at increased risk for head and neck malignancies, including those with telomere biology disorders (TBD). This experience has provided me with insight into the unique clinical considerations and cancer risks faced by this population. In addition to my clinical responsibilities, I have participated in research within the field of head and neck oncology and survivorship.

 

Genetic Counselor Information:

• Laura Ongie: My role as a genetic counselor is to educate patients regarding available genetic testing, to support them through a diagnosis of TBD, and to extend these same services to their family members. I hope to aid them in making informed decisions and to provide care and resources to help adjust to a new diagnosis. I have been the dedicated counselor of our TBD clinic for the past four years engaging in patient care, research, and education.
• Jennifer Kemppainen: With over 12 years of experience working as a genetic counselor at Mayo Clinic, I have had the opportunity to participate in clinical care and translational research. For the past 5 years in my role with the Center for Individualized Medicine, I helped build and support an innovative genetic counseling and testing model for rare disease including interstitial lung disease. Through this work, I partner with TBD experts at Mayo to provide genetic counseling for patients and their at-risk families. I also work closely with our team of clinicians and experts to promote TBD research and publication.
• Ileana Trujillo: As a genetic counselor, I help individuals and their families understand the genetic testing process, interpret complex genetic information, and navigate inherited conditions with clear, compassionate guidance. I have experience working with individuals affected by Telomere Biology Disorders, providing genetics education, ongoing support while they navigate a genetic diagnosis, understanding  the implications for relatives, and connecting with the care and resources they need. My goal is to empower individuals with knowledge while supporting them through each step of their genetic healthcare journey.  

 

Social Worker Information:

Social works services are available at Mayo Clinic via a referral-based system. There is not an individual who specifically supports the TBD patients, however there is a large department of social workers who provide services to patients when they are recognized by our providers and a referral is made.

 

Additional specialists at center:

Immunology

• Avni Joshi: I direct the Primary immunodeficiency program at Mayo Clinic serving both adults and children and work at the interface of aging research in immunodeficiency. I direct the Primary Immune Deficiency Treatment Consortium (PIDTC) at Mayo Clinic and have prospective clinical trials looking at novel therapeutics including senolytics in patients with immune deficiency disorders.

 

Pharmacist

• Kristen McCullough: As a pharmacist in the Division of Hematology, I have collaborated with physicians to care for TBD patients over the past several years. Efforts have included counseling on medications utilized in supportive care, toxicity monitoring and management, drug-drug interaction reviews, prescription drug insurance navigation, counseling on vaccinations, and assisting in the implementation and execution of therapeutic clinical trials. Presently I am collating our experience utilizing danazol in TBD patients outside the confines of a clinical trial.

 

Reproductive Medicine

• Zaraq Khan, M.D.: I am a reproductive endocrinology and infertility specialist with a strong interest in premature ovarian aging and its implications for women’s health. I am particularly interested in how systemic and genetic factors contribute to early reproductive decline and long-term health outcomes in women.

 

Registered Nurse

• Jodi L. Rindflesch, R.N.: I am a research registered nurse coordinator with 32 years of experience at Mayo Clinic, including 28 years in pediatric care and 10 years specializing in transplant and cellular therapy. My clinical and research experience includes caring for patients with telomere biology disorders across the continuum of care, with a strong focus on complex multisystem disease, hematologic complications, and transplant-related outcomes. I am actively involved in coordinating research protocols, patient education, and multidisciplinary collaboration for rare and high‑risk populations. I am certified as a Transplant and Cellular Therapy Certified Nurse (TCTCN) and am deeply committed to advancing evidence‑based care for patients with inherited bone marrow failure and telomere disorders.

 

Other specialists

Mayo Clinic includes specialists in all recommended fields that have expertise in the identification and management of rare diseases. While not directly included in the TBD specialty clinics, the Mayo Clinic characteristic collaborative approach to clinical care allows that this patient can receive the best care in each modality when needed.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• Endoscopy
• Hematopoietic cell transplantation
• Esophagogram
• Nasolaryngoscopy
• DXA scan
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

Contact Information: 

Dr. Joanne Yacobovich, head of Center of Excellence

Sharona Israel, secretary

+972-3-9253669

[email protected]

 

Informational Site: 

https://www.schneider.org.il/eng 

 

Center Lead: Dr. Joanne Yacobovich

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

. 

• Dr. Joanne Yacobovich, Director of the Hemato-Oncology Division at SCMCI: Joanne Yacobovich is a pediatric hematologist-oncologist at the Schneider Children’s Medical Center of Israel for more than 20 years, and the head of the Molecular Hematology Laboratory in Felsenstein Research Center, Tel Aviv university. She holds MD and MPH degrees from Tel Aviv University, and completed her  pediatric hematology-oncology fellowship at the Schneider Children’s Medical Center. She directed the pediatric hematology unit in Schneider Children’s for six years before being elected to chair the center’s Division of Pediatric Hematology and Oncology in 2024.

She specializes in pediatric non-malignant hematology, with a particular focus on bone marrow failure and leukemia predisposition syndromes. At Schneider’s, home to the largest pediatric hematology-oncology division in the country, she leads the diagnosis and treatment of patients diagnosed with these disorders. Her research focus is on congenital hematological diseases, exploring diagnostic and translational processes associated with treating these syndromes. Dr. Yacobovich is involved in the diagnosis and treatment of families with TBD including the full state of the art diagnosis process which is done in house, counseling the families concerning involved members and managing the follow up of the clinical phenotype.

• Dr. Oded Gilad: Head of the hematology unit at SCMCI. 
• Dr. Dafna Brik Simon: An attending physician in the hematology unit at SCMCI.
• Dr. Michal Dvori: An attending physician in the hematology unit at SCMCI.  
• Dr. Shlomit Barzilai-Birenboim: Head of the Hematologic Malignancies Unit and an expert in pediatric leukemias and myelodysplastic syndromes at SCMCI.
• Dr. Gil Gilad: an attending physician in the hematologic malignancies unit
• Dr. Shira Amar: The head of the solid tumor unit at SCMCI
• Dr. Orli Michaeli: A specialist in pediatric solid tumors and cancer predisposition syndromes. 
• Dr. Ron Rabinowicz: A specialist in leukemia predisposition syndromes. 
• Dr. Asaf Yanir: The head of the pediatric hematopoietic cell transplant and cellular therapy unit. 
• Dr. Aviva Krauss: An attending physician at the HSCT unit at SCMCI, and the head of the Clinical Trial Unit at the Hematology-Oncology Division, SCMCI. 
• Dr. Rakefet Sidlik Muskatel:  An attending physician at the HSCT unit at SCMCI. 
• Prof. Ofir Wolach: The Gabrielle Rich Department of Hemato-Oncology, Davidof Cancer Center, Beilinson.

 

All listed physicians are experienced in different aspects of the diagnosis, follow-up, and treatment of patients with TBD including in malignant complications.  

The hematology clinic in SCMCI is the biggest pediatric hematology unit in Israel. We have 4 dedicated attending physicians. The clinic has a nurse, social worker, and psychologist with extensive expertise in providing nursing and psychosocial assistance for patients with chronic hematologic diseases including patients with bone marrow failure syndromes. We have direct access to a blood bank. We have a dedicated secretary which is available to help patients and families with scheduling their appointments and navigating bureaucracy. 

 

Bone Marrow Transplant Physician Information:

• Dr. Asaf Yanir: Dr. Yanir is the new head of BMT. He completed his Pediatric Hematology-Oncology training in Hadassah Medical Center of Jerusalem and a fellowship in Bone Marrow Transplantation and Leukemias in Texas Children’s Medical center. He has been an attending in our BMT unit since 2017 and has a special interest in BMT for non-malignant diseases including experience using the reduced intensity protocols for our TBD patients.
• Dr. Aviva Krauss: An attending physician at the HSCT unit at SCMCI, and the head of the Clinical Trial Unit at the Hematology-Oncology Division, SCMCI.
• Dr. Rakefet Sidlik Muskatel: An attending physician and researcher in the HSCT unit at SCMCI
• Dr. Shiri Rubin: Dr. Rubin is a young Pediatric Heme-Once specialist and is planning a short preceptorship in BMT for non-malignant diseases.
•  

 

All listed physicians are experienced in HSCT  for both malignant and for non-malignant disease, including for patients with bone marrow failure syndromes. The HSCT unit is a referral center for patients from various departments and has extensive experience with all modalities of HSCT. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Prof. Meir Mei-Zahav: Head, pediatric pulmonology institute at SCMCI. 
• Dr. Eyal Yaacobi: Dr. Yaacobi is a specialist in pediatric pulmonology and did a fellowship in lung transplantation treatment, he is an active member of our team for the last 2 years.

All patients with TBD are being followed in the pulmonology institute. This institute is equipped with all diagnostic facilities and is highly experienced in treating patients with chronic lung disease. Lung transplant center – in collaboration with experts from the Rabin Medical Center. 

 

Hepatologist and/or Liver Transplant Physician Information:

• Dr. Yael Mozer-Glassberg: Director of the Pediatric Liver Transplantation Unit. 
• Dr. Orit Waisbourd-Zinman: Head of the hepatology service. 
• Dr. Michael Gurevich: Head of the Pediatric Transplantation Surgery Unit. 

SCMCI is a national center for liver transplantation and is receiving referrals of patients with acute and chronic liver disease from many centers in Israel. They are highly experienced in all types of liver diseases including those related to TBD. Dr. Gurevich is the leading liver transplant surgeon in SCMCI. 

 

Gastroenterologist Information:

• Prof. Dror Shouval: Head, pediatric IBD service. 
• Dr. Noam Zevit: Senior gastroenterologist

The gastroenterology division is performing all types of interventions including treatment for esophageal constriction, gastrointestinal bleeding and nutritional issues.

 

Dermatologist Information:

• Dr. Rivka Friedland: Head of the pediatric dermatology unit  

As SCMCI is a tertiary hospital, the dermatology unit is experienced in treating patients with multi-organ involvement. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. David Ulonofsky: Head of ENT, Schneider Children’s. Dr. Ulonofsky has been a senior ENT in Schneider Children’s for over 20 years and has consulted on many of our TBD patients.

The ENT unit is consulting for patients from all other clinics and wards and is performing cutting edge surgical interventions. 

 

Genetic Counselor Information:

• Dr. Naama Orenstein: Director of the Clinical Genetics Unit. 

The experts of the clinical genetic unit are involved in the diagnosis and consultation for patients with BMF syndromes followed in our unit, and their families. The geneticists are also involved in the planning of pre gestational diagnosis (PGD). 

 

Social Worker Information:

• Ruth Netzer Inbar: Social worker of the hematology unit. 

Extensive experience in providing assistance and support for patients with severe and chronic hematological disorders including bone marrow failure syndromes. 

 

Additional specialists at center:

 

Immunology

• Dr. Nufar Marcus is a specialist in Pediatric Immunology and Allergy, with a sub-specialty in Innate Errors of Immunity. She consults and follows all our patients with TBD assessing their immune system, responses to vaccines and the robustness of T-cell activity.

 

Endocrinologist

• Dr. Shlomit Shalitin is a Pediatric Endocrinologist who consults the Heme-Onc division for over 25 years, following all the TBD patients before and after BMT.

 

Palliative Care

• Dr. Oran Goldshmidt is a specialist in pediatric heme-onc (trained in my center) and in palliative care after completing fellowships in GOSH (London) and Sickids (Toronto CA). He has in the last year established a palliative care unit in our hospital serving all the patients in the heme-onc department as well as around the whole children’s medical center.

 

Gynecology Clinic for Girls and Adolescents

• Dr. Mihal Eisner is an Ob/Gyn specialist in adolescents, she treats our young girls with TBD and especially followed patients who were treated with androgens.

 

Urology

• Dr. David Ben Meir is the Chief of pediatric urology in Schneider Children’s, has over 25 years of experience in our center and follows all the heme-onc patients for any complications related to their underlying disease or post-BMT.

 

Neurology

• Dr. Tamar Steinberg: Head of Neurology and child development center

 

Ophthalmology

• Prof. Gad Dotan: Head of ophthalmology unit

 

Psychiatry & Psychology

 

• Dr. Noa Ben Aroya Milstein: Head of the E. Richard Feinberg Department of Child and Adolescent Psychiatry & Psychological Medicine)

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy – To detect clonal evolution in patients with TBD, we have an extensive follow-up program. When conducting a bone marrow examination, we typically perform chromosomal and molecular clonal evolution studies. 
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan*
• Nasolaryngoscopy
• Hematopoietic cell transplantation
• Lung Transplantation*
• Liver Transplantation
• Interventional Radiology
• Esophagogram
• Endoscopy

*DXA scan is performed in the adjoining adult hospital – Rabin Medical Center (Beilinson Campus). The follow-up and relevant treatment is available in SCMCI. 

*Lung transplantation is performed in collaboration with adult specialists in Beilinson.

 

Contact Information: 

Reach out to Alison Bertuch, MD, PhD 832-824-4579 as the initial contact. Based on the community member’s needs, we will coordinate visits with various specialties.

 

Informational Site: 

https://www.texaschildrens.org/departments/bone-marrow-failure-program

https://www.texaschildrens.org/departments/transplant-center 

https://www.texaschildrens.org/departments/stem-cell-transplantation-cellular-therapy

 

Center Lead: Dr. Alison Bertuch

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Alison Bertuch: Dr. Bertuch’s work in the telomere biology field began in 1997, shortly before the connection between telomeres and dyskeratosis congenita and related telomere biology disorders (TBDs) was made (n.b., Drs. Sharon Savage and Bertuch first coined the term TBD in their 2010 review). To perform translational research studies on TBDs, she opened the Genetic and Biological Determinants of Bone Marrow Failure study in 2004, enrolling over 25 probands from her region and their affected and unaffected family members with TBDs to date. Through the clinical care of these individuals and a host of other activities, she has developed a high level of expertise in the TBDs. She has published over 20 translational and clinical research articles and reviews, presented at scores of national and international meetings, contributed to both editions of the Telomere Biology Disorder: Diagnosis and Management Guidelines, and participated in several Camp Sunshine and Team Telomere Family Chat sessions. Dr. Bertuch has received TBD-related research funding from the American Society of Hematology and the Department of Defense, has current funding from the NIH and a Carson Family Grant, and has a second DOD award pending. She is a steering committee member of the Clinical Care Consortium for Telomere Associated Ailments and a Team Telomere Medical Advisory Board. 

In addition to Dr. Bertuch, the bone marrow failure team that cares for our patients with TBDs includes Dr. Xiaofan (Fan Fan) Shen and Physician Assistant Balistine Anderson, PA-C. The experience of these team members is through the care of patients seen in our center and through education during our weekly team meetings and other formal educational opportunities in our center. 

 

Bone Marrow Transplant Physician Information:

Our Bone Marrow Transplant Program, one of the largest in the country, has substantial experience transplanting patients with TBDs (~20 to date). It is a site on Dr. Suneet Agarwal’s BMT clinical trial. It has early experience transplanting individuals with TBDs under Haplotab: T-cell receptor/CD19+ depletion in haploidentical allogeneic HCT for patients with hematological malignancies and non-malignant disorders. Key members of our team include Dr. Caridad Martinez and Dr. Robert Krance (our current and former Medical Directors), Dr. Erin Morales Ubico (local site PI for Haplotab) and Dr. Megha Shekkar, soon to be junior faculty member who has a strong interest in the inherited bone marrow failure syndromes, including the TBDs. 

 

Pulmonologist and/or Lung Transplant Physician Information:

We have two pulmonary physicians who have been integral in caring for our TBD patient population: Dr. Manuel Silva-Carmona, who is the Chief of our Pulmonary Division and leads our Interstitial Lung Disease Program, and Dr. Shailendra Das, who leads our Primary Ciliary Dyskinesia Center. The surgical and medical directors of our Lung Transplant Program are Dr. Jeffrey Heinle and Dr. Tina Melicoff, respectively. The program ranks among the largest globally and leads in performing pediatric lung transplants nationwide, making up one quarter of all pediatric lung transplants in the United States.

 

Hepatologist and/or Liver Transplant Physician Information:

Paula Hertel, MD, is the liver team lead for our patients with TBDs, with her interest in this population evidenced by her participation on the recent liver disease TBD study by Wang et al. She is also a member of the Liver Transplant Program, one of the country’s most active and established programs, performing over 760 transplants since 1988 and over 35 annually. The program’s Surgical Director, John Goss, MD, and Medical Director, Daniel Leung, MD, are committed to evaluating TBD patients who may benefit from liver transplantation.

 

Gastroenterologist Information:

Eric Chiou, MD, is the lead gastroenterologist for our patients with TBDs. He was critical in the completion of the GI bleeding study led by Dr. Bertuch and Dr. Ryan Himes. His clinical and procedural experience and expertise align with our patients’ needs. 

 

Dermatologist Information:

TCH’s Dermatology Clinic is one of the largest for children in the US. The team, led by Raegan Hunt, MD, PhD, has provided exceptional service to our patients, from distinguishing GVHD from the mucocutaneous features of the TBDs to skin punch biopsies for diagnostics and skin cancer screening.

 

Otolaryngologist and/or Oral Medicine specialist Information:

Daniel C. Chelius, MD, has been providing expert care of our patients with TBDs for several years. He is board-certified in complex pediatric otolaryngology. He works closely with the primary hematology or BMT teams to ensure our patients receive the regular screening necessary for early detection and effective treatment of head and neck cancer.

 

Genetic Counselor Information:

Most children with a TBD are initially diagnosed in the Hematology Center or are referred to it, where they meet with our full-time, dedicated genetic counselor, Laura George, PhD, MS-CGC who has been actively engaged in the genetic diagnosis and counseling of TBD patients at our institution. She has demonstrated a deep interest in supporting the TBD community and expanding awareness, including by participating at our Team Telomere table at the recent Rare Disease Day event at the Houston Health Museum. The medical staff and genetic counselors in Baylor College of Medicine’s General Genetics Clinic reach out routinely to Dr. Bertuch and Ms. George to review new cases to ensure comprehensive evaluations and coordinated care and facilitate the assessment of pediatric-age family members as needed.

 

Social Worker Information:

We have dedicated social workers within the various specialties at TCH, so patients/families can partner with the social worker(s) within the department where they receive their primary care (e.g., hematology or BMT for most patients with TBDs). All families are assigned and meet with a social worker around the time of diagnosis. We provide support for local, regional, and international patients.

 

Note

It is unlikely that a required specialist will not be available at our center. However, should such a circumstance arise, we would reach out to colleagues at Team Telomere CoEs to ensure the patient has access to the specialized care they need. Our care team works closely with patients and caregivers to coordinate referrals that minimize burden and disruption. Along with a high-level summary, we coordinate the transfer of clinical records, if not readily available through the electronic medical record, relevant diagnostic imaging, and the most recent prior evaluations to ensure continuity of care. We utilize provider-to-provider consultations rather than more general referrals to centers. Direct communication between the providers is paramount. We previously noted that additional specialized expertise might be available at the neighboring MD Anderson Cancer Center (MDACC). However, MDACC’s pediatric program is transitioning to the Kinder Children’s Cancer Center, a joint venture with Texas Children’s Hospital, which is located at Texas Children’s facilities. 

 

Additional specialists at center:

We have identified numerous providers that we specifically engage as needed to provide care to our patients with TBDs:

• Lisa Forbes-Satter, MD, Director, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies and Director of the Texas Children’s Hospital William T. Shearer Center for Human Immunobiology has taken an interest in our patients and is readily available as needed. She is particularly interested in immune defects in syndromes affecting the hematopoietic compartment and the interplay between bone marrow disorders and immune consequences, which we have observed in some of our severely affected patients.
• Alfonso Hoyos-Martinez, MD, is our go-to person for endocrine care for our patients with TBDs. He closely monitors those who are on danazol. 
• Chester Koh, MD, is a pediatric urologist who has cared for several of our patients with TBDs who need management of disorders such as ureteral stenosis, phimosis, and GU bleeding. 
• Lisa Emrick, MD, is the director of the Neurogenetics program at TCH and is available for specialty care of those with CNS manifestations, such as Hoyeraal Hreidarsson, Revesz syndrome, and Coats plus.
• Katherine Williams, MD, has clinical interest and expertise in pediatric oculoplastics and can provide the care needed for the lid and nasolacrimal duct complications in the TBDs.
• Emmanuel Chang, MD, PhD, with Retinal & Vitreous of Texas, provides dedicated care for our patients with TBDs. He was a participant in the 2017 workshop at the NIH on vascular complications in the TBDs. 
• Sharon Plon, MD, PhD, is a clinical cancer geneticist and a ClinGen principal investigator. TBDs are on her differential of cancer prone families and children with chemo and radiation sensitivity, resulting in a number of new diagnoses through her clinic.
• Dr. Sebastian Ochoa Gonzalez, MD: Dr. Ochoa, who trained at the NIH/NIAID, brings expertise in the evaluation of immunodeficiencies in patients with TBDs.
• Dr. Tammy I. Kang, MD, MSCE: In addition to serving as Chief of the Texas Children’s Hospital Palliative Care Team, Dr. Kang is trained in Pediatric Hematology/Oncology and is currently serving as our Interim Chief of the Division of Pediatric Hematology/Oncology.

 

We note that we are also able to provide specialty care in many other areas, including but not limited to pediatric gynecology (e.g., for urethral stenosis or labial adhesions), surgical oncology, pain management, palliative care, orthopedics (e.g., for care of avascular necrosis or osteoporosis), dentistry, renal (for renal dysfunction or transplantation), physical medicine and rehabilitation, psychology, and complex care. We have robust ethics, child life, arts in medicine, pet therapy, spiritual care, and grief mentor programs. We have a full-time Spanish interpreter in our Hematology Center and throughout the hospital, in-hospital Arabic translators, and on-the-spot virtual language assistance programs. 

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

 

Dental assessment and treatment are provided for this patient population within our outpatient dental clinic or through inpatient consultation as needed. 

 

Orthopedic specialists for treatment of avascular necrosis.

 

Dr. Emmanuel Chang can provide our patients with wide-field fluorescein angiography and optical coherence tomography, laser photocoagulation, and/or vitreoretinal surgery. He is one of ~15 pediatric retinal surgeons in the country.

 

Our BMT service has an open protocol for haploidentical transplantation for patients with TBDs (Haplotab: T-cell receptor/CD19+ depletion in haploidentical allogeneic HCT for adult and pediatric patients with hematological malignancies and non-malignant disorders.)

Contact Information: 

[email protected]

(608)-915-0100

 

Informational Site: 

https://www.uwhealth.org/locations/uw-carbone-cancer-center-228/oncology-genetics-clinic-1040

 

Center Lead: Jane Churpek, MD, MS

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Jane Churpek, MD, MS: Dr. Churpek is a hematologist/oncologist/internist/cancer geneticist who has run a clinical/translational program for the last 14 years focused on helping patients and families identify rare germline variants that contribute to cancer and bone marrow failure risk. Dr. Churpek has a hereditary hematology and cancer prevention clinic where her team evaluates ~200 patients per year and follows more than 90 patients with a confirmed TBD diagnosis. Dr. Churpek is dedicated to the education of patients and families and diverse clinical providers (hospital administrators, insurance providers, genetic counselors and genetic counseling students, residents and hematology/oncology fellows, physician assistants and nurse practitioners, and other physicians) to recognize and understand health conditions related to TBD and improve access to genetic testing, telomere length measurement, and TBD-specific care across the age spectrum. Lastly, Dr. Churpek is dedicated to partnering with patients and families, their other health care providers, and other basic and translational scientists through the CCCTAA consortium to publish research findings related to TBD biology, diagnosis, and management to help advance the field toward the ultimate goal of preventing the major life-altering complications of TBD. 

 

Bone Marrow Transplant Physician Information:

• Aric Hall, MD: Dr. Hall is a myeloid malignancies and hematopoietic stem cell transplantation expert. He has been the University of Wisconsin site principal investigator for Dr. Suneet Agarwal’s Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients with Dyskeratosis Congenita (NCT01659606). Our site enrolled and transplanted patients with TBD on this trial and following this protocol who are in long-term follow-up at our center and doing well. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Erin Lowery, MD, MS: Dr. Lowery is the Director of the joint University of Wisconsin and William S. Middleton Memorial Veterans’ Hospital Lung Transplantation Program. Dr. Lowery is dedicated to improving access and optimizing long-term outcomes for all patients needing lung transplantation. She has closely collaborated with Dr. Churpek to screen all patients being seen for lung transplantation for TBD features and with other expert centers to begin to implement TBD-specific lung transplantation protocols to minimize complications. In the last two years, 15% of all patients undergoing lung transplant for pulmonary fibrosis in our program have had a confirmed TBD diagnosis. Dr. Lowery contributed to the recent ISHLT Consensus Statement publication on Short Telomere Syndrome and Lung Transplantation. 
• Sirus Jesudasen, MD: Dr. Jesudasen is a lung transplant expert at UW Health with a clinical and research interest in optimizing lung transplant care for patients with a TBD.

 

Hepatologist and/or Liver Transplant Physician Information:

• John Rice, MD: Dr. Rice is the section chief of Hepatology and medical director for the Liver and Pancreas Center at UW Health. He is a liver transplantation expert and leads evaluation and management of liver disease in patients with or suspected of having a TBD at our center.

 

Gastroenterologist Information:

• Jennifer Weiss, MD, MS: Dr. Weiss is the medical director of the UW Health Gastroenterology Genetics Clinic. She specializes in the care of patients with diverse hereditary gastroenterology disorders and leads care for the gastroenterology needs for patients with TBD at our center.

 

Dermatologist Information:

• Annika Weinhammer, MD: Dr. Weinhammer is a dermatologist specializing in the care of squamous cell carcinoma management especially in the patients at increased risk due to genetic predisposition, immunodeficiency, or post transplantation. Dr. Weinhammer leads skin surveillance for patients with TBD at our center. 
• Connie Zhong, MD: Dr. Zhong is an academic dermatologist with expertise in skin manifestations of hereditary disorders. She performs expert dermatologic care and related research for patients with TBD at our center. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

UW School of Medicine and Public Health and UW Health has a comprehensive Head and Neck Cancer Program including a funded SPORE grant focused on translational research for this disease. Our TBD team engages with multiple providers in the ENT (and H&N oncology) group depending on the patient’s needs. Specifically, we have a dedicated Head and Neck Cancer Prevention clinic for surveillance of patients at high risk for precursor lesions and cancers as well as expert ENT surgeons for patients who require treatment for a cancer.  

 

Genetic Counselor Information:

• Emma Adams, CGC: Ms. Adams is a certified genetic counselor with expertise in hereditary hematologic disorders and hereditary cancer. She is a key member of UW Health’s TBD clinic, evaluating and caring for patients and families suspected of having a telomere biology disorder.

 

Social Worker Information:

Our social work team is divided into disease-focused entities (i.e., Hematologic Malignancy expert, Benign/Classical Hematology Expert, Lung Transplantation expert, and Pediatric expert). Thus, we work with multiple social workers who collaborate with our TBD team to address the social work needs of our patients and families. 

 

Additional specialists at center:

Pediatric Hematology Oncology: 

• Christina Amend, MD: Dr. Amend cares for children with various hereditary hematologic disorders and malignancies, including patients with TBD. She closely collaborates with Kelcy Smith-Simmer, CGC, to identify individuals and families with histories suggestive of TBD, aids in diagnosis, and provides clinical management. Dr. Amend closely collaborates with Kelcy and Dr. Churpek to provide family-centered care.

 

Endocrinology:

• Subarna Dhital, MD: Dr. Dhital’s practice focuses heavily on managing and caring for patients with low bone mineral density/osteoporosis along with various hereditary endocrine disorders. Dr. Dhital evaluates and manages the majority of patients with a TBD diagnosis at our center with the goals of reducing bone pain, fractures, and optimizing long term bone health.

 

Adult and pediatric immunology: 

• Led by Drs. Christine Seroogy (pediatrics) and Daniel Rosenberg (adult) who are experts in the diagnosis and management of individuals with inborn errors immunity or other forms of immunodeficiency.

 

Interstitial lung disease surveillance, diagnosis and management (pulmonology): 

• Led by Dr. Amy Malik, an expert in the diagnosis and management of interstitial lung disease. 

 

Anal cancer surveillance and prevention: 

• Led by Dr. Evie Carchman (colorectal surgeon) who has a clinical and translational research program dedicated to preventing anal cancer

 

Gynecology for cervical cancer screening and prevention: Multiple providers

 

Neurology and Neurosurgery: Multiple providers including experts in rare disease management such as Dr. Ankush Bhatia (neuro-oncology) and Dr. Bermans Iskander (pediatric neurosurgery)

 

Ophthalmology: Multiple providers including expert retinal care for those with hereditary disorders led by Dr. Roomasa Channa 

 

Reproductive care: Multiple providers at the UW Health Fertility Care Clinic affiliated with our center with expertise and experience in preimplantation genetic diagnosis and management of fertility in patients undergoing chemotherapy or other treatments

 

Nutritionists: Multiple providers organized by organ-system to provide expert nutrition services

 

Palliative care: Multiple providers organized by organ-system to provide expert palliative and hospice care

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

 

Our center has access to:

1. Ophthalmology, eye and retinal exams (including complete including widefield fluorescein angiography), Laser photocoagulation and vitreoretinal surgery 
2. Dental care is available for inpatients for urgent needs. We engage with multiple community outpatient dental practices for routine outpatient dental care.
3. Innovative imaging: UW Health and the UW School of Medicine and Public Health have a longstanding partnership with GE HealthCare to develop and optimize novel imaging protocols

Contact Information: 

Email: [email protected] or [email protected], Phone: +49-241-80-89806

 

Informational Site: 

Zentrum für Telomererkrankungen (Telomeropathien) / AA-BMF-Register (ukaachen.de)

 

Center Lead: Prof. Fabian Beier

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Prof. Fabian Beier: Experienced TBD specialist with years of expertise. Numerous publications in telomere biology. Trained in hematology, oncology and allogeneic transplantation. 

 

Bone Marrow Transplant Physician Information:

• Prof. Fabian Beier: Experienced TBD specialist with years of expertise. Numerous publications in telomere biology. Trained in hematology, oncology and allogeneic transplantation.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Priv.-Doz. Dr. Jens Spiesshoefer: Experienced pulmonologist with years of expertise. Numerous publications in the field of lung diseases. 

 

Hepatologist and/or Liver Transplant Physician Information:

• Prof. Tony Bruns: He is an experienced clinician-scientist with a strong focus on hepatology, particularly advanced liver disease, cirrhosis, and infection-related complications.

 

Gastroenterologist Information:

• Prof. Marie Berres: Experienced gastroenterologist and hepatologist with years of expertise. Numerous publications in the field of liver disease, especially liver fibrosis. Co-author in the publication Using fibrose-scan in TBD patients.

 

Dermatologist Information:

• Prof. Dr. Verena von Felbert: Experienced dermatologist with extensive clinical expertise and a strong track record of publications in the field of dermatologic disease.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Prof. Dr. Markus Wirth: He is an experienced clinician-scientist with a strong focus on translational research in head and neck oncology and hereditary cancer predisposition.

 

Genetic Counselor Information:

• Robert Meyer: Experienced human geneticist with years of expertise. Numerous publications in the field of genetics and also TBD.

 

Social Worker Information:

• Manuela Klenert: TBD nurse.
• Joelle Schifflers: TBD coordinator.

 

Additional specialists at center:

 

Reproductive Endocrinologist:

• Dr. Nele Frerksen-Kirschner: Expert in reproductive endocrinology with extensive experience in fertility preservation and hormonal management in complex clinical settings.

 

Obstetrician / Gynecologist: 

• Prof. Elmar Stickeler: Internationally recognized expert in gynecologic oncology and hereditary cancer syndromes with a strong focus on personalized patient care.

 

Neurologist: 

• Prof. Florian Holdbernd: Specialist in neuromuscular and neurogenetic disorders with extensive experience in complex neurological disease management.

 

Ophthalmologist:

• Prof. Matthias Fuest: Expert in inherited retinal and vascular eye diseases with strong expertise in imaging-based diagnostics and translational ophthalmologic research.

 

Liver Transplant Surgeon:

• Prof. Dr. Florian Vondran: Highly experienced transplant surgeon with expertise in complex hepatobiliary surgery and liver transplantation in high-risk patients.

 

Surgical Oncologist (Thorax):

• Dr. Sebastian Kalverkamp: Specialist in thoracic surgical oncology with expertise in minimally invasive and complex oncologic procedures.

 

Urologist:

• Prof. Dr. med. Matthias Saar: Expert in urologic oncology and functional urology with a focus on precision diagnostics and surgical innovation.

 

Palliative Care:

• PD Dr. Iris Appelman: Specialist in palliative medicine with extensive experience in symptom control, supportive care, and patient-centered treatment strategies.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology

 

We operate as a full-service academic hospital, equipped with state-of-the-art imaging technologies and comprehensive surgical departments all under one roof. Our facility provides access to advanced diagnostic imaging, including all types of MRI, CT, PET-CT, ultrasound, and additional specialized imaging modalities. In addition, we offer comprehensive molecular diagnostics for Telomere Biology Disorders, including state-of-the-art whole-genome sequencing and flow-FISH telomere length analysis, the current gold standard for clinical telomere length assessment. 

Our in-house surgical departments encompass all specialties, including general surgery with liver transplantation, orthopedic surgery, neurosurgery, cardiovascular surgery, and many others. Patients requiring liver transplantation are managed at our center, while patients requiring lung transplantation are referred to Hannover Medical School, the national reference center in Germany with extensive expertise in lung transplantation.

Address:

Department of Pediatrics and Adolescent Medicine

Eythstrasse 24

Ulm, Baden-Wuerttemberg 89075

DE

 

Contact Information:

[email protected]

[email protected]

 

Informational website:

www.uniklinik-ulm.de/kinder-und-jugendmedizin

 

Specialists available at center:

Hematologist and/or Oncologist Information:

• Marena Niewisch, MD is nationally and internationally recognized for her expertise in pediatric telomere biology disorders (TBDs) and has advanced the field through several influential clinical and translational publications. Her ongoing work includes establishing Germany’s first pediatric TBD registry, a landmark initiative that will support multicenter research, longitudinal data collection, and deeper insights into disease trajectories.

 

Bone Marrow Transplant Physician Information:

• Prof. Manfred Hönig, MD: Internationally recognized specialist in stem cell transplantation for hematopoietic and immunodeficiency diseases, whose work spans diagnostics, rare disease management, and immunology-focused research.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Prof. Sebastian Bode, MD: Pediatric pulmonologist with extensive clinical and academic experience. His scientific work focuses on pulmonary manifestations in the context of genetic predispositions.

 

Hepatologist and Gastroenterologist Information:

• Prof. Dr. Thomas Seufferlein, MD: Leading expert in gastroenterology and hepatology at Ulm Medical Center.

 

Dermatologist Information:

• Evelyne Tarnowietzki, MD: Board‑certified dermatologist serving as the primary dermatologic contact of the pediatric BMF clinic for children affected by TBDs.

 

Otolaryngologist specialist Information:

• Prof. Janina Hahn, MD: Experienced ENT surgeon at Ulm Medical Center, specializing in the diagnosis, treatment, and clinical surveillance of head and neck cancers, particularly in patients with genetic predispositions.

 

Human Genetics Physician Information:

• Prof. R. Siebert, MD: Internationally recognized human geneticist with almost 30 years of expertise. Numerous publications in the field of genetics, especially cancer predisposition syndromes such as telomere biology disorders and hematological malignancies.

 

Social Worker Information:

• Iris Merbeler, M.Sc: Trained psychologist, coordinating interdisciplinary psychological and social support services at Ulm children’s hospital.

Contact Information: 

[email protected]

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Vivian Y. Chang: Dr. Chang specializes in taking care of patients with underlying genetic disorders that increase risk of rare blood disorders and cancer. She has been managing patients with telomere biology disorders, with colleagues in medical genetics, from diagnosis to cancer screening to coordination of subspecialty care, since 2012.

 

Bone Marrow Transplant Physician Information:

• Wanxing Chai-Ho: Dr. Chai-Ho is a hematologist oncologist who uses a multidisciplinary approach to diagnose and treat blood disorders, including bone marrow transplantation for patients with telomere biology disorders.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Grant Turner MD: Dr. Grant Turner is a Pulmonary/Critical Care and Lung Transplant physician with specialized expertise in interstitial lung disease, including telomere biology disorder (TBD)-related ILD, cystic fibrosis, and lung transplantation. He completed his pulmonary and critical care fellowship at the University of Nebraska Medical Center before pursuing a lung transplant fellowship at the University of California, Los Angeles, where he developed a focused interest in TBD. At UCLA, he collaborated with Dr. Sam Weigt and Dr. Vivian Chang to develop a standardized evaluation protocol for individuals with fibrotic lung disease being considered for lung transplantation. Through this work, he helped bring together a multidisciplinary team dedicated to the care of patients with telomere-related disorders. His clinical experience across ILD and transplant populations has provided deep familiarity with the complexity and multisystem nature of TBD. In addition, his background in health administration equips him with the organizational and leadership skills needed to coordinate a diverse team and sustain a high-functioning Center of Excellence for this vulnerable patient population.
• Augustine Chung: Dr. Chung sees patients with a wide variety of pulmonary conditions, including but not limited to interstitial lung disease, sarcoidosis, asthma, emphysema, pulmonary nodules, and pneumonia. His research focus is in Interstitial Lung Disease, including telomere biology disorders, since 2014.
• Sam Weigt: Dr. Weigt is the director of the Interstitial Lung Disease Center and Pulmonary Fibrosis Foundation Care Center at UCLA, and the director of clinical research for the Lung Transplant Program at UCLA. He has been leading translational efforts in diagnosing and managing patients with telomere biology disorders undergoing lung transplant.

 

Hepatologist and/or Liver Transplant Physician Information:

• Jasleen Singh: Dr. Singh specializes in general and transplant hepatology and treats patients across the spectrum of liver disease, from benign liver conditions to complications of cirrhosis and liver transplant evaluation, including patients with telomere biology disorders. She also provides post-transplant care.

 

Gastroenterologist Information:

• We have gastroenterologists who specialize in various specific issues, and we would guide our patient with TBD who is having a GI concern to a specific GI physician who could help (motility, GERD, etc). 

 

Dermatologist Information:

• Marcia Hogeling: Dr. Hogeling is board-certified in dermatology and pediatric dermatology. She treats all dermatology conditions with a particular interest in those caused by rare genetic conditions, including telomere biology disorders.
• Carol Cheng: Dr. Cheng’s clinical interests include all aspects of pediatric dermatology, acne, infantile hemangiomas, atopic dermatitis, and pediatric laser treatments and surgery. She has a particular interest in skin conditions associated with rare genetic conditions, including telomere biology disorders.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dinesh Chettri: Dr. Dinesh Chhetri is professor of head and neck surgery and a laryngologist, a specialist in voice disorders, swallowing disorders, and upper airway disorders. He has experience with cancer screening in cancer survivors and patients with telomere biology disorder.

 

Genetic Counselor Information:

• Denisse Garza: Ms. Garza is a licensed certified genetic counselor who has genetic counseling experience in all areas of medical genetics, including telomere biology disorders.

 

Social Worker Information:

• Evelina Panossian Saki, LCSW: Evelina is an experienced social worker who supports our pulmonary clinic at UCLA and has experience assisting patients with TBD with various issues regarding insurance, provides community resources, provides psychoeducation, and discusses benefits and supportive services available in the community.

 

Additional specialists at center:

 

Through our lung transplant experience, we partner with specialized physicians throughout every department/division at UCLA. We are able to leverage our direct connections with trusted partners to help our patients with their needs regarding other subspecialties.

 

Immunology

• Caroline Kuo: Dr. Kuo’s clinical practice focuses on the diagnosis and treatment of both pediatric and adult patients with immunodeficiencies and recurrent infections, including patients with telomere biology disorders.

 

Ophthalmology

• Michael Gorin: Dr. Gorin’s primary research focus is the molecular genetics of hereditary eye disorders, particularly age-related macular degeneration (AMD), retinitis pigmentosa, Stargardt disease, and telomere biology disorders.

 

Endocrinology

• Megan McConnell: Dr. McConnell is an endocrinologist with expertise in osteoporosis management and prevention. She has experience taking care of patients with telomere biology disorders and maximizing bone health.

 

Neurology

• Brent Fogel: Director of the Neurogenetics Clinic and the UCLA Clinical Neurogenomics Research Center. He specializes in the diagnosis and care of patients with genetic neurological disorders including cerebellar ataxia & ataxia with oculomotor apraxia, spastic paraplegia, leukodystrophies, and telomere biology disorders.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam 
• Vitreoretinal surgery

Contact Information: 

Email: [email protected]

Phone: 612-273-2800

Fax: 612-273-0882

 

Informational Site: 

https://rarediseases.org/center-of-excellence/m-health-fairview-masonic-childrens-hospital/

https://med.umn.edu/pediatrics/division/pediatric-blood-and-marrow-transplantation-cellular-therapy

 

Center Leads: Meera Srikanthan, MD and Rebecca Tryon, GC

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Meera Srikanthan, MD: Leads a team of hematologists, hematopoietic cell transplant physicians, and genetic counselors across pediatric and adult disciplines to care for patients with TBD, from presentation through diagnosis and treatment. Locally, she provides longitudinal surveillance for patients with TBD serving as their hematologist and bone marrow transplant physician. In 2024, Dr. Srikanthan established a twice monthly regional meeting including referring centers from MN, IA, ND, and SD for discussions on bone marrow failure, including treatment options, best practice recommendations, new literature and difficult cases. She is developing a biorepository for TBD, FA, and SAA to aid in understanding development of hematologic complications in these disorders and response to therapies. Nationally, Dr. Srikanthan is an active member of the NIH Clinical Consortium for Care of Telomere Associated Ailments (CCCTAA).
• Greg Vercellotti, MD: A senior faculty member of the Hematology, Oncology and Transplantation Division at the University of Minnesota, with a 40+ year clinician scientist record investigating endothelial dysfunction in non-malignant diseases. 
• Roy Kao, MD: A faculty member of the Hematology, Oncology and Transplantation Division at the University of Minnesota. While he currently provides clinical care to adult patients, he is med/peds training and completed fellowships in both pediatric and adult hematology/oncology. Dr. Kao provides a critical expertise in transition of care from pediatrics to adult medicine with a unique dually-trained perspective. 
• Manish Patel, DO: Provides expert care for DC/TBD patients with head and neck carcinoma.
• Naomi Fujioka, MD: Provides expert care for DC/TBD patients with head and neck carcinoma.

 

Bone Marrow Transplant Physician Information:

• Meera Srikanthan, MD: co-listed under hematology (pediatric provider)
• Gregory Vercellotti, MD, co-listed under hematology (adult provider)
• Roy Kao, MD, co-listed under hematology (adult provider)

 

Pulmonologist and/or Lung Transplant Physician Information:

• Hyun Kim, MD: Directs the Interstitial Lung Disease Program at the University of Minnesota, a group providing clinical care, access to research including a patient registry, and education with a biannual Pulmonary Fibrosis Education day.
• Anupam Kumar MD, FCCP, Judith H. and John M. Murphy Professor, Associate Professor of Medicine, Medical Director of the Lung Transplantation Program, Pulmonary, Allergy, Critical Care & Sleep Division. Dr. Kumar has unique interest in interstitial lung disease in patients with TBD and management considerations in lung transplant. 

 

Hepatologist and/or Liver Transplant Physician Information:

• Thomas Leventhal, MD: Dr. Leventhal is a transplant hepatologist, gastroenterologist, and critical care physician with expertise in hepatic manifestations of telomere biology disorders.
• Srinath Chinnakotla, MD: A world renowned liver transplant surgeon providing care to both pediatric and transplant patients at the University of Minnesota. He has performed >900 liver transplants and is an excellent resource for TBD patients requiring liver transplant consideration.

 

Gastroenterologist Information:

• Elissa Downs, MD, MPH: Dr. Downs provides liver and luminal GI care to many patients with syndromic needs, including DC/TBD, Fanconi anemia, and epidermolysis bullosa. (pediatric provider)
• Thomas Leventhal, co-listed under hepatologist above (adult provider)

 

Dermatologist Information:

• Sheilagh Maguiness, MD: Provides dermatology care to many patients with syndromic needs, including DC/TBD, Fanconi anemia, and epidermolysis bullosa. (pediatric and adult provider)
• Christina Boull, MD: Provides dermatology care to many patients with syndromic needs, including DC/TBD, Fanconi anemia, and epidermolysis bullosa. (pediatric and adult provider)

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Luke Jakubowski, MD
• Sobia Khaja, MD: Dr. Khaja is a head and neck surgeon critical to identification and treatment of head and neck carcinoma in patients with DC/TBD.

 

Genetic Counselor Information:

• Rebecca Tryon, GC: Ms. Tryon fulfills a critical role guiding new referrals to the correct providers and advising on individual and family genetic testing. She sees pediatric and adult patients, serving as a contact for all appropriate subspecialists with patients potentially affected by TBD. Ms. Tryon contributed to the recent Team Telomere Diagnosis and Management Guidelines. 

 

Social Worker Information:

Pediatric BMT team: Phil Kuehn, Vanessa Hausman, Kathryn Elison. Our pediatric BMT social work team provides support to patients undergoing allogeneic hematopoietic cell transplant as well as those seen for routine annual surveillance and hematology care for DC/TBD in pediatrics. 

 

Note:

When seeking unique specialty support not available at our center, we would utilize our collaborations through the Team Telomere Center of Excellence as well as CCCTAA to identify the expert resources needed to support our patient. 

 

Additional specialists at center:

Laboratory medicine and pathology: 

• Oyedele Adeyi, MD: Oyedele Adeyi, MD, provides pathology expertise in liver diseases, including TBD. He is currently contributing to a study of liver explants in patients with TBD requiring liver transplant, through the CCCTAA. 

 

Nutrition: 

• Megan Wears: Megan Wears is a clinical dietician in pediatrics, providing expert assessments and management of nutritional deficits in TBD via the GI and BMT clinics.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

 

Dental assessments and surgeries; eye and retinal exam

​

Center Lead: Namrata Patel, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Daria Babushok MD PhD: Dr. Babushok has over a decade of experience in treating bone marrow failure conditions, including the diagnosis and management of hematologic manifestations of TBD.  As one of the leaders of the Penn Telomere Biology Disorders Program, Dr. Babushok provides specialized hematology care for adults with TBD.  She also oversees the transition of patients with TBD from pediatric to adult care.  Additionally, Dr. Babushok is a co-lead of the joint Penn/Children’s Hospital of Philadelphia Bone Marrow Failure Registry study.  
• Allyson Pishko, MD, MSCE: Dr. Pishko’s clinical and research focus is on non-malignant hematologic disorders, including bleeding and clotting dysfunction, as well as thrombocytopenia.  She has been closely involved with the Penn interstitial lung disease and lung transplantation program in the management of adults with TBD, including pre- and post-transplant protocols for screening for marrow failure syndromes.
• Dr. Ronak Mistry: Dr. Mistry is a member of the classical hematology program with broad expertise in classical hematology and has experience in the evaluation for suspected telomere biology disorders.
• Dr. Ximena Jordan Bruno: Dr. Jordan Bruno is a member of the leukemia program and leads the University of Pennsylvania hematologic malignancy predisposition clinic.

 

Bone Marrow Transplant Physician Information:

• Penn BMT physicians have broad expertise in modern BMT approaches.  A primary indication for BMT for patients with TBD at our center is progression to hematologic malignancies such as MDS/AML.  This adds unique challenges to transplant therapies.  The TBD program benefits from the involvement of several BMT physicians, who bring extensive knowledge in treating patients with blood cancers to the TBD population. 

• David Porter, MD
• Saar Gill, MBBS, PhD
• Nasheed Hossain, MD
• Pashna Munshi, MD

 

Pulmonologist and/or Lung Transplant Physician Information:

Interstitial Lung Disease Pulmonologist

• Namrata Patel, MD: Dr. Patel has more than 15 years’ experience in treating patients with TBD and advanced lung disease, with a focus on pulmonary fibrosis.  In her capacity as the Clinical Director of the Penn ILD Program, she has been responsible for the TBD screening pathways in the ILD clinic and the lung transplant referral population.  Her clinical work has focused on improving access to lung transplantation for patients with TBD, including understanding how to manage extrapulmonary disease manifestations before and after transplant.
• Jeremy Katzen, MD: Dr. Katzen has extensive expertise in lung biology and conducts research in pulmonary fibrosis and short telomeres.

 

Gastroenterologist, Hepatologist and/or Liver Transplant Physician Information:

• Ethan Weinberg, MD, MS: Dr. Weinberg is a transplant hepatologist and gastroenterologist with a focus on cryptogenic cirrhosis and liver metabolism.  He is the primary referring clinician for the Penn ILD and lung transplant programs in risk-stratifying patients with TBD and hepatic manifestations, including non-cirrhotic portal hypertension.  He has also developed TBD screening protocols for adults with cryptogenic cirrhosis and concern for underlying multisystem disease.

 

Dermatologist Information:

• Dr. Christopher Miller, Director, Penn Dermatology Oncology Center. Dr. Miller leads the Penn Dermatology Oncology Center and has extensive experience in the diagnosis, surveillance and treatment of skin cancers including treatment of immunocompromised patients and others with skin cancer predisposition.
• Dr. Aditi Senthilnathan is a dermatologist who has trained in Penn Dermatology Oncology Center and in 2026 will be starting  as a new faculty member, and will be closely following patients with telomere disorders as well as those that have had prior organ and bone marrow transplant for skin cancer screening.
• Emily Y. Chu, MD, PhD is an  Associate Professor of Dermatology at the Hospital of the University of Pennsylvania with special interest and expertise in dermatopathology and bone marrow failure and telomere biology disorders.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Takako Tanaka, DDS, FDS, RCSEd: Dr. Tanaka has over 15 years of oral medicine experience in the United States and Japan.  As the primary referring provider for oral medicine care for DKC patients and lung and BMT transplants candidates and recipients with TBD, she has developed clinical expertise in cancer and non-cancerous oral TBD manifestations.

 

Geneticists and Genetic Counselor Information:

Because of the importance of medical genetics and genetic counseling for TBD screening and diagnosis as well as for potential cascade testing of family members, the Penn TBD program includes three medical geneticists and their partners from the genetic counseling team.

 

• Staci Kallish, DO: In collaboration with the Penn ILD and lung transplant group, Dr. Kallish has developed pathways for telomere length screening and targeted genetic testing in these populations.
• Theodore Drivas, MD, PhD: In addition to his clinical work as a primary referring medical geneticist in the Penn TBD Program, Dr. Drivas maintains a research lab, one focus of which is on understanding disparities in genetic testing practices and improving access to advanced genetic technologies for underserved populations.
• Mersedeh Rohanizadegan, MD, MPH:. Dr. Rohanizadegan maintains a clinical and research interest in heritable cancer syndromes, including the role of circulating tumor DNA for cancer screening.   She is closely involved in the expedited medical genetics referral pathway for patients within the TBD Program.

 

Social Worker Information:

Each of the individual programs represented (Bone Marrow Transplant, Lung Transplant, Interstitial Lung Disease, and Transplant Hepatology) have associated social workers. 

 

Note:

University of Pennsylvania is a large tertiary referral hospital, and we have a broad network of available specialists.

In rare situations, where a required specialist, clinical trial, or life-saving service is not available at Penn, we refer and connect to other tertiary care centers that offer that service. For example, referrals for clinical trials, or referrals to other transplant centers that may do dual organ transplants for TBD patients, etc.

 

Additional specialists at center:

Immunology

• Pavle Milutinovic, MD, PhD: Recognizing the potential for immunologic dysregulation in TBD, including B and T cell functional impairment, Dr. Milutinovic serves as the referring immunologist for Penn patients with TBD.  With his background in adult medicine and pediatrics, and his research interest in the pathogenesis of lung disease, he provides an additional resource for TBD patients transitioning from the Children’s Hospital of Philadelphia to Penn Medicine.

 

Pathology / Tissue Typing

• F. Bradley Johnson, MD, PhD: Dr. Johnson’s research focuses on mechanisms of telomere maintenance and genome stability, and how these relate to age-related pathology, including cancer and neurodegenerative diseases.  Along with Dr. Babushok, Dr. Johnson has participated in Team Telomere-funded studies acquired genetic changes and their consequences in bone marrow of TBD patients.  He also maintains a research interest in therapeutic drug trials for telomere length stabilization.  He is actively involved in the lung transplant program, particularly for discussions of HLA sensitization and induction immunosuppression in candidates with TBD.

 

Palliative Care

Each of the individual programs represented (Bone Marrow Transplant, Lung Transplant, Interstitial Lung Disease, and Transplant Hepatology) works closely with the Penn Palliative Care Team.

 

Reproductive Endocrinologist

• Dr. Clarisa R. Gracia, MD, MSCE: Dr. Gracia has several decades of experience in reproductive endocrinology and fertility preservation in various conditions including those with inherited diseases affecting fertility and those undergoing chemotherapy and bone marrow transplantation. She is the Chief of the Division of Reproductive Endocrinology and Infertility, and the Director of Fertility Preservation.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Eye and Retinal Exam (Complete including ​​widefield fluorescein angiography)
• Laser photocoagulation and/or vitreoretinal surgery.

Contact Information: 

[email protected] 

 

Informational Site: 

University of Utah Telomere Biology Disorders Center

 

Center Leads: Jennie Vagher, CGC and Andrew M. Courtwright, MD, PHD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Srinivas Tantravahi, MBBS, MRCP: Dr. Tantravahi is an expert in the management of leukemias, bone marrow failure, and genetic predisposition to related conditions. Dr. Tantravahi is the medical director of the inpatient leukemia and bone marrow transplant units and leads the bone marrow failure and hereditary hematologic malignancies clinic at the Huntsman Cancer Hospital, University of Utah. 
• Afaf Osman, MD: Dr. Osman has a long-standing interest in predisposition to hematologic malignancies. During fellowship, she was part of a team that published a study in Blood Advances exploring the phenotypes of families with telomere biology disorders. She leads the clonal hematopoiesis clinic at the University of Utah and focuses on inherited and somatic leukemia risk. 
• Richard King, MD: Dr. King is a hematologist at the University of Utah who specializes in inherited blood disorders, including bone marrow failure syndromes that can occur in people with telomere biology disorders. His clinical and research interests focus on improving the diagnosis and treatment of rare hematologic conditions, including congenital dyserythropoietic anemias 
• Luke Maese, DO: Dr. Maese is the co-Director for the pediatric Bone Marrow Failure clinic at Primary Children’s Hospital and the High-Risk Predisposition clinic at Huntsman Cancer Institute. He focuses his work on cancer predisposition and treatment for acute lymphocytic leukemia. 

 

Bone Marrow Transplant Physician Information:

• Sagar Patel, MD: Dr. Patel is a specialist in Hematopoietic Stem Cell Transplant (HSCT) and other Cellular Therapies. He has particular interest in nonmalignant and malignant HSCT. 
• Ahmad Rayes, MD: Dr. Rayes is the co-Director for the pediatric Bone Marrow Failure and is an expert in nonmalignant HSCT. He also serves as the Director for the pediatric Immunodeficiency clinic. During Residency and Fellowship, Dr. Rayes trained at Cincinnati with Dr. Myers and Minnesota with Drs. Macmillan and Wagner and developed a love of the inherited bone marrow failure syndromes. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Andrew M. Courtwright, MD, PHD: Dr. Courtwright is a transplant pulmonologist who specializes in treating lung transplant candidates and recipients with TBD.  He is the lead author on the International Society for Heart and Lung Transplantation Consensus Statement on Short Telomere Syndrome and Lung Transplantation and has published widely on TBD in lung transplant considerations.
• Mary Beth Scholand, MD: Dr. Scholand is the Director of the Interstitial Lung Disease clinic at UU Health and has led the program for 20 years. She is the 2023 recipient of the Thomas H. Caine Award for Clinical Excellence. She has built and established herself as an expert in familial lung disease, especially those with underlying telomere biology disorders.  
• Matthew Morrell, MD: Dr. Morrell is the Medical Director of the Lung Transplant program at UU Health. He was previously an associate professor at the University of Pittsburgh before he joined the faculty at UU Health. His research portfolio demonstrates an impressive background in the genetics of lung disease, especially telomere biology disorders, and the unique considerations for patients with TBD in the lung transplant setting. 

 

Hepatologist and/or Liver Transplant Physician Information:

• Juan Gallegos-Orozco, MD: Dr. Gallegos-Orozco is the Medical Director for the Hepatology and Liver transplant clinic at UU Health. He has had a longstanding interest with the factors that predispose individuals to liver disease. 

 

Gastroenterologist Information:

• Kathryn Peterson, MD, MSCI: Dr. Peterson specializes in diagnosing and treating gastrointestinal diseases, with a focus on conditions such as Eosinophilic Esophagitis, Barrett’s Esophagus, and inflammatory bowel disease. Her research interests lie in exploring the epidemiological factors that contribute to the development of GI disorders.

 

Dermatologist Information:

• Lauren Madigan, MD: Dr. Madigan is a dermatologist focusing on the comprehensive management of complex skin conditions and general dermatology. She is the recipient of the 2023 Dermatology Foundation Medical Dermatology Career Development Award, titled “Developing Better Understanding of Adult-Onset Mastocytosis in the Skin”. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Luke Buchmann, MD: Dr. Buchmann, a distinguished head and neck surgeon, specializes in the treatment of head and neck cancers. Additionally, he fulfills the role of Director at the paraganglioma predisposition clinic, further underscoring his dedication to understanding predispositions to head and neck cancers.

 

Genetic Counselor Information:

• Jennie Vagher, CGC: Jennie Vagher is a genetic counselor specializing in the predispositions to hematologic malignancy and other rare cancer predispositions. 
• Cate Levy, CGC: Cate Levy is genetic counselor specializing in hereditary predispositions to bone marrow failure as well as disorders of hemostasis and thrombosis. 

 

Social Worker Information:

• Todd Pehrson, LCSW: Todd is a licensed social worker within the Division of Pulmonology. He is dedicated to helping individuals with lung disease cope with their diagnosis. 
• Jennifer Pannunzio. LCSW: Jennifer is a licensed social worker within Huntsman Cancer Institute. She works alongside our hematologists and helps patients to adjust to their new diagnoses and provides resources. 

 

Additional specialists at center:

 

Immunologist: Our Immunology department specializes in treating rare and complex immunologic disorders. 

 

Ophthalmologist: The John A. Moran Eye Center is consistently ranked in the top 10 eye centers in America. We have numerous specialty providers, including ophthalmologists, retinal specialists, ocular oncologists, etc. 

 

Endocrinologist: Our endocrinology specialists specialize in treating rare and complex endocrinopathies. 

 

Neurologist: Our Neurology department has several specialists, including motor neuron specialists and movement specialists, and work alongside other specialty providers like neurosurgeons.  

 

Nutritionist: Our Nutrition Services include opportunities to meet with registered dieticians and program enrollment for lifestyle adjustments. 

 

Reproductive Endocrinologist: The Utah Center for Reproductive Medicine is available as a resource for all patients seeking to discuss family planning and options for biological children. 

 

Ob/Gynecologist: The Division of Obstetrics and Gynecology is home to wide array of providers, including those specializing in high risk maternal care to those with expertise in gynecologic oncology. 

 

Urologist: The Division of Urology is available to treat or consult on many different diagnoses. 

 

Surgical Oncologist” The Section of General Surgical Oncology is home to highly trained surgeons with subspecialties in gynecology, gastroenterology, breast, etc. 

 

Palliative Care specialist: We have two service lines able to assist with palliative and supportive care for patients: https://healthcare.utah.edu/gen-internal-medicine/palliative and https://healthcare.utah.edu/huntsmancancerinstitute/treatment/supportive-oncology-survivorship 

 

UU Health and Huntsman Cancer Institute deliver exceptional care to the diverse communities of the Mountain West region, including urban, rural, and frontier areas, consistently ranked among the nation’s top providers. Encompassing over 10 percent of the continental U.S., our expansive clinical footprint ensures widespread access to high-quality care. With a network of 22 affiliate hospitals and 55 telehealth partner sites, we extend our reach to serve even more diverse populations across the region. As our network continues to expand, we are committed to enhancing patient outreach and providing unparalleled access to specialist care, furthering our mission to deliver excellence in healthcare to all those we serve.

 

Monitoring modalities and treatments available at center: 

• Bone marrow biopsy
• Blood tests (including CBC, liver function tests, etc.)
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

 

UU Health has a comprehensive dental program and eye center with available treatments, such as widefield fluorescein angiography, Laser photocoagulation and vitreoretinal surgery. 

Contact Information: 

Please use [email protected]

 

Informational Site: 

https://www.gaslini.org/ 

 

Center Lead: Dr. Carlo Dufour

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Carlo Dufour
• Dr. Filippo Spreafico
• Dr. Francesca Fioredda
• Dr. Maurizio Miano
• Dr. Erika Massaccesi
• Dr. Luca Arcuri

Extensive experience in the management of patients with TBD; participation in international conferences and scientific publications related to TBD; collaboration on international registries on TBD.

 

Bone Marrow Transplant Physician Information:

• Dr. Maura Faraci 
• Dr. Filomena Pierri 

Extensive experience in hematopoietic stem cell transplantation for patients with constitutional bone marrow failure and those with lysosomal storage disorders (TBD). For the past 5 to 10 years, they have regularly provided consultations to patients with TBD.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Dr. Pietro Salvati

He regularly provides consultations for our TBD patients since 5-10 years

 

Hepatologist and/or Liver Transplant Physician Information:

• Dr. Annalisa Madeo
• Dr. Alessandro La Rosa  

They regularly provide consultations for our TBD patients since 5-10 years

 

Gastroenterologist Information:

• Dr. Annalisa Madeo
• Dr. Alessandro La Rosa

They regularly provide consultations for our TBD patients since 5-10 years

 

Dermatologist Information:

• Dr. Gianmaria Viglizzo

For the past 5 to 10 years, he has regularly provided consultations to patients with TBD.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. Tommaso Cacco
• Dr. Lucia Semino 

They  regularly provide consultations for our TBD patients since 5-10 years

 

Genetic Counselor Information:

• Dr. Francesca Faravelli, Clinical Geneticist
• Dr. Marina Lanciotti, Molecular Geneticist 

They regularly provide consultations for our TBD patients since 5-10 years

 

Social Worker Information:

• Maria Anna Crudo

She regularly provides support (accomodation, visa, NHS registration for foreign patients) for patients referred to Hemato-Oncology Department including TBD patients since 5-10 years.

 

Additional specialists at center:

Immunologist: Dr. Marco Gattorno

Ophthalmologist: Dr. Lorenza Sposetti 

Endocrinologist: Dr. Roberto Gastaldi 

Neurologists: Dr. Elisa De Grandis and Dr. Ramona Cordani

Nutritionist/Metabolic disorders expert: Dr. Maria Cristina Schiaffino

Gynecologists: Dr. Nicoletta Aiello

Urologist: Prof. Dr. Girolamo Mattioli

Surgical Oncologist: Dr. Stefano Avanzini

Palliative Care Specialist: Dr. Luca Manfredini

Home Care Specialist: Dr. Sandro Dallorso

D.O.P.O. (a Unit dedicated to survivors after chemo- and radiotherapy) Specialists: Dr. Andrea Beccaria and Dr. Ramona Tallone

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Interventional Radiology

For liver and lung transplantation we rely on long standing collaboration with Dr. Lorenzo D’Antiga and Dr. Mario Nosotti to whom we present the clinical case and discuss the indication for transplant. If indication is appropriate, the patient is transferred to their Centres, where the transplant is practically performed under the coverage of the Italian NHS. Once the surgical post transplant is terminated, the patient is referred back to our Centre that still remains in tight contact with the Transplant Centre for any need related to organ transplant.  

 

Ultrasound elastography (fibroscan), Dermoscopy, Dental assessments, Eye and Retinal Exam (including ​​widefield fluorescein angiography), Laser photocoagulation and/or vitreoretinal surgery. 

Contact Information: 

Noa Hourvitz, TBD clinic, Genetics Institute and Genomic Center, TASUMC, Tel Aviv, Israel.

Dr. Daphna Marom, TBD clinic, Deputy Director of the Genetic Institute and Genomic Center at the TASUMC.

Please send an email to: [email protected].

 

Informational Site:

https://www.tasmc.org.il/Internalmed/Genetics/Pages/Genetics.aspx

 

Center Lead: Noa Hourvitz

 

Specialists available at center:

Hematologist and/or Oncologist Information:

Pediatric

• Orna Steinberg Shemer, MD: Orna Steinberg-Shemer, MD, MSc, is Head of the Pediatric Classical Hematology Service at Dana-Dwek Children’s Hospital, Tel Aviv Sourasky University Medical Center (Ichilov), and Principal Investigator of the Inherited Hematological Disorders Laboratory. She holds a joint clinical and academic appointment at Tel Aviv Sourasky University Medical Center and the Gray Faculty of Medical & Health Sciences, Tel Aviv University. Dr. Steinberg-Shemer received her combined MD-MSc degree from the Hadassah Medical School of the Hebrew University of Jerusalem and completed her pediatric residency and pediatric hematology-oncology fellowship at Schneider Children’s Medical Center of Israel. She subsequently pursued post-doctoral research at the Children’s Hospital of Philadelphia and has over a decade of experience as a senior pediatric hematologist. Her clinical focus includes inherited bone marrow failure and leukemia-predisposition syndromes, including telomere biology disorders. Her lab investigates congenital hematological disorders and the mechanisms underlying malignant transformation in these high-risk conditions. In her previous position, Dr. Steinberg-Shemer led the Team Telomere Center of Excellence at Schneider Children’s Medical Center.

Adult

• Miri Yakovleva Neaman, MD: Dr. Miriam Neaman is a senior hematologist at the Tel Aviv Hematology Institute specializing in adult myeloid malignancies, with expertise in the diagnosis, management, and post-treatment monitoring of AML and MDS patients. She established and currently runs an active clonal hematopoiesis clinic for adults with CHIP or other somatic mutations, and germ line mutations conferring risk for bone marrow failure, providing her with specialized experience in longitudinal hematological surveillance of high-risk populations. Completing her PhD in epigenetic characterization of myeloid diseases with experience in both basic and clinical research, she is uniquely positioned to provide comprehensive hematological follow-up for adult TBD carriers and patients at risk for clonal evolution and bone marrow complications.

 

Bone Marrow Transplant Physician Information:

• Ron Ram MD: Head of Bone Marrow Transplant Unit. Dr. Ram is the Director of the Bone Marrow Transplantation and Cellular Therapy Department at Tel Aviv Sourasky University Medical Center. He has an extensive experience in the management of complex hematologic disorders, including inherited bone marrow failure syndromes and telomere biology disorders, with a particular focus on allogeneic hematopoietic cell transplantation. His clinical and research work integrates advanced transplantation strategies with multidisciplinary care for patients with rare genetic hematologic conditions.
• Neta Nevo: Pediatric Bone Marrow Unit at Tel Aviv Sourasky University Medical Center (Ichilov), Dana-Dwek Children’s Hospital.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Avraham Unterman: Head, Pulmonary Fibrosis Center of Excellence, Tel Aviv Sourasky University Medical Center, Israel. Dr. Unterman is the head of the Pulmonary Fibrosis Center of Excellence and the Genomic Research Laboratory for Lung Fibrosis at Tel Aviv Sourasky University Medical Center (TASUMC). He is a physician-scientist focusing his career on idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases (ILD). As such, he regularly treats patients with TBD. In 2018, he joined Yale University School of Medicine as an instructor in the laboratory of Dr. Naftali Kaminski, a world expert in genomics of chronic lung disease, biomarkers discovery and molecular mechanisms of IPF. At Yale, Dr. Unterman’s research focused on studying the immune system in chronic fibrotic lung diseases in both the blood and the lung, by using the powerful technology of single-cell RNA sequencing (scRNA-seq). He has received extensive training in both laboratory and computational aspects of scRNA-seq and has gained significant hands-on experience. In 2020 he won the Pulmonary Fibrosis Foundation (PFF) Scholars Award. Dr. Unterman is the PI of the recently launched prospective multi-center study entitled: “Short telomeres in familial and sporadic fibrotic ILD in Israel”. He’s also the head of the steering committee for the Israeli multi-center ILD registry.

 

Hepatologist and/or Liver Transplant Physician Information:

• Helena Katchman MD, PhD: Head of Liver Unit, Tel Aviv Sourasky University Medical Center. Clinical and research work in the field of chronic liver disease with special focus on advanced liver disease and liver transplantation.

 

Gastroenterologist Information:

• Helena Katchman MD, PhD: Head of Liver Unit, Tel Aviv Sourasky University Medical Center. Clinical and research work in the field of chronic liver disease with special focus on advanced liver disease and liver transplantation.

 

Genetic Counselor Information:

• Noa Hourvitz: I am a certified genetic counselor and a PhD candidate in Genetics specializing in telomere biology and Telomere Biology Disorders (TBDs). My interest in research began with my BSc studies, when I started working at the lab of Prof. Tzfati, focusing on the field of Telomeres, and particularly Telomere Biology Diseases (TBDs). Alongside research, I developed a strong interest in working closely with people, which led me to pursue an MSc in Genetic Counseling combined with research. My thesis focused on the role of RTEL1 in telomere maintenance and genome stability, using cells from Hoyeraal-Hreidarsson syndrome patients carrying mutations in RTEL1, which cause the disease. Since then, I have continued to combine basic research and clinical genetics, and I completed the genetic counseling internship in parallel with my PhD. During these years, I have mastered various clinical skills and gained vast knowledge, both in basic science and in clinical genetics, focusing specifically on telomere maintenance and TBDs.

In recent years, together with colleagues at the Hebrew University and the Tel Aviv Sourasky Genetics Institute and Genomic Center, we have established a collaborative clinic that integrates genetic counseling, genomic testing, telomere length measurement, and research, with the aim of improving the diagnosis and management of patients with TBDs. I’m co-managing this clinic together with Dr. Daphna Marom, a certified expert in Pediatrics and Medical Geneticist.

 

Social Worker Information:

• Adi Elul: In-house social worker, experienced in supporting and following patients and their families in the pediatric hematology-oncology department.

Note:

Tel Aviv Sourasky University Medical Center (TASUMC) is the second largest tertiary medical center in Israel, located in Tel Aviv and serves the largest densely populated area of central Israel and is a referral center from the whole country, the Palestinian Authority and more. As such, all medical specialties, sub-specialty comprehensive clinical services and all imaging modalities are available, including those listed above, who are integral to our TBDs service. TASUMC has a very large and leading pediatric and adult dermatology departments and services as well as pediatric and adults ENT department and units. All are available for acute or chronic consultations and care through a personal approach and ad hoc clinical multidisciplinary meetings.

Additional specialists at center:

 

Genetic Institute and Genomic Center

• Daphna Marom: Dr. Marom is Deputy Director of the Genetic Institute and Genomic Center at the TASUMC, one of the largest genetic centers in the country. Dr. Marom, a certified pediatrician and medical geneticist with a vast experience in clinical pediatric and adult genetics. Together with Noa she founded our TBD center. Dr. Daphna Marom, Ms. Noa Hourvitz and Dr. Rami Unterman work in close collaboration.

Allergy and Clinical Immunology

• David Hagin: Dr. Hagin is the director of the Allergy and Clinical Immunology Unit, at the Tel-Aviv Sourasky Medical Center. Following his Internal Medicine residency, Dr. Hagin completed his PhD studies at the Weizmann Institute of Science, under the supervision of Prof. Yair Reisner, investigating methods to support engraftment of mismatched hematopoietic cells. He then continued and completed clinical and research fellowship in the field of Allergy and Clinical Immunology at the University of Washington and at the Center for Immunity and Immunotherapies (CIIT), Seattle Children’s Research Institute, where he took a central part in a gene editing project for the correction of CD40LG encoding CD40 ligand, and in a second gene editing project inducing high expression of FOXP3 in CD4 T cells, under the supervision of Dr. Troy R Torgerson and Dr. David J Rawlings. Upon his return to Israel, and due to his ongoing interest and dedication to the field of primary immunodeficiency and immune dysregulation syndromes, Dr. Hagin established the clinic for Inborn Errors of Immunity (IEI), following and treating patients with rare primary immunodeficiency disorders. The clinic is now following close to 200 patients with different IEI disorders. Dr. Hagin has published over 100 original peer reviewed papers, and his laboratory is focused on the study and phenotyping of patients with IEI, including the study of several novel genetic defects. Dr. Hagin is highly dedicated to his patients and advocating for patients with rare immunodeficiency and immune-dysregulation disorders, understanding the need for treatment and decision making in the absence of large-scale studies.

Monitoring modalities and treatments available at center:

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology

Patients who require lung transplantation are referred to the national lung transplant center at the Rabin Medical Center. Our IPF team works in full collaboration with the Rabin Medical Center.

Dental assessments, Eye and Retinal Exam (Complete including widefield fluorescein angiography), Laser photocoagulation and/or vitreoretinal surgery are available in house.

Contact Information: 

[email protected]

 

Informational website: 

https://www.ucsfbenioffchildrens.org/clinics/hematology-clinic

https://www.ucsfbenioffchildrens.org/clinics/bone-marrow-transplant-bmt-cellular-and-gene-therapy-program

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Serine Avagyan, MD PhD, Bone marrow failure (BMF), Center lead
• James Huang, MD, BMF and pediatric hematology
• Kristin Shimano MD, BMF and pediatric bone marrow transplant
• Cheryl Peretz, MD, BMF and pediatric oncology
• Marina Heskel, MD, adult hematology

 

Bone Marrow Transplant Physician Information:

• Kristin Shimano MD, pediatric bone marrow transplant
• Rebecca Olin MD, adult bone marrow transplant

 

Pulmonologist and/or Lung Transplant Physician Information:

• UCSF pediatric pulmonology clinic
• Paul Wolters, MD, adult pulmonology
• Erica Farrand, MD, adult pulmonology
• Steve Hays, MD, lung transplant
• UCSF Lung Transplant Program

 

Hepatologist and/or Liver Transplant Physician Information:

• UCSF Pediatric Liver Center
• UCSF Pediatric Liver Transplant Program
• UCSF Liver Transplant Program

 

Gastroenterologist Information:

• Sue Rhee, MD, pediatric GI

 

Dermatologist Information:

• Flora Bradley, MD, adult and pediatric dermatology

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dylan Chan, MD PhD

 

Genetic Counselor Information:

• Adrienne Wakeling, CGC, MS, Genetic Counselor

 

Immunology

• Lauren Sanchez, MD

 

Endocrinology

• UCSF Pediatric Metabolic Bone Clinic 

 

Orthopedic surgery

• UCSF Orthopedics, adult
• UCSF Pediatric Orthopedics 

 

Social Worker Information:

• UCSF social work team in hematology and bone marrow transplantation

 

Palliative care specialist

• A team of dedicated providers who work closely with hematology, oncology and BMT.

 

Physical Wellbeing

• Wellness center for youth with chronic conditions.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam 
• Laser photocoagulation and/or vitreoretinal surgery

Specialists available at center: 

Hematologist and/or Oncologist Information:

Pediatric

• Dr Anjali Sharathkumar: Dr. Sharathkumar has a track record of mentoring of trainees and junior faculties and is institutional PI on NIH and industry funded clinical trials evaluating novel therapeutics for benign hematological diseases including bone marrow failure . She is a member representative for the University of Iowa at the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Dr. Sharathkumar is one of pediatric hematologists who evaluates pediatric patients presenting with uni-lineage or multi-lineage cytopenias, including patients suspected to have inherited bone marrow failure syndromes and telomere biology disorders.

Adult

• Dr Grerk Sutamtewagul: Dr. Grerk Sutamtewagul is a Clinical Associate Professor in Internal Medicine – Hematology, Oncology and Blood Marrow Transplantation with extensive clinical experience in both benign and malignant hematological disorders. He is currently the Director of the Hematology-Oncology Fellowship Program and is actively involved in the Adolescent and Young Adult (AYA) Cancer Program. Dr Sutamtewagul evaluates adult patients presenting with cytopenias and is actively involved in the care of patients diagnosed with inherited bone marrow failure syndromes, including those with telomere biology disorders.

 

Bone Marrow Transplant Physician Information:

Pediatric

• The Stead Family Children’s Hospital provides bone marrow transplant services to pediatric patients, including patients with TBD. Due to the current personnel changes, we are actively recruiting additional faculty members for the expansion of this service. The Pediatric Stem Cell Transplant and Cellular Therapies Program provides comprehensive care for patients with hematologic malignancies, solid tumors, brain tumors, and non-malignant conditions. The Division also has a robust Adolescent and Young Adult (AYA) Cancer Program in collaboration with the NCI-designated Holden Comprehensive Cancer Center at the University of Iowa.

Adult

• Dr Margarida Magalhaes-Silverman: Dr. Margarida Magalhaes-Silverman is a Clinical Professor of Internal Medicine – Hematology, Oncology, and Blood and Marrow Transplantation and the Medical Director of the Adult Bone Marrow Transplantation Program. Dr Silverman and her team have been actively managing TBD cases at the University of Iowa for many years. She is also active in referring post bone marrow transplant cases with pulmonary complications to exclude an underlying telomere biology disorder in adults who have received a hematopoietic stem cell transplantation in the past for either aplastic anemia, myelodysplastic syndrome or acute myeloid leukemia.

 

Pulmonologist and/or Lung Transplant Physician Information:

Pediatric

• Dr. Anthony J. Fischer MD PhD: Dr. Anthony Fischer is a Clinical Associate Professor and Division Director for Pediatric Pulmonology at the University of Iowa. His laboratory focuses on translational science, including the pathophysiology and treatment of cystic fibrosis and childhood interstitial lung diseases caused by various genetic syndromes. Dr. Fischer has been a research mentor for 5 clinical fellows and has received research funding through the CF Foundation, NHLBI, and NIAID.

Adult

• Dr. Nabeel Hamzeh: Dr. Nabeel Hamzeh is a Professor of Internal Medicine – Pulmonary, Critical Care and Occupational Medicine with a research interest in granulomatous lung diseases and fibrosis. He has extensive clinical experience in the diagnosis and management of adults with interstitial lung disease and idiopathic pulmonary fibrosis. Dr Hamzeh and his colleagues from the interstitial lung disease group have referred multiple individuals to the Division of Medical Genetics and Genomics for evaluation of an underlying genetic predisposition for patients with suspected familial pulmonary fibrosis. They also evaluate asymptomatic patients who are members of a family with familial pulmonary fibrosis who are concerned about their risk of developing interstitial lung disease.

 

Hepatologist and/or Liver Transplant Physician Information:

Pediatric

• The Division of Gastroenterology, Hepatology, Pancreatology, and Nutrition is the state’s only tertiary academic care program committed to providing the highest available level of care to children with disorders of the digestive system, liver, and pancreas.  The Clinical services include several multidisciplinary care services including Eosinophilic Gastrointestinal Disorders Clinic, Pediatric Feeding Clinic, Fontan Clinic, IBD clinic, Aerodigestive and Tracheostomy Clinic among others.  The division has the National Pancreas Foundation approved Pancreas Center of Excellence designation, held only by a few pediatric hospitals in the country.   The division currently has nine physicians (soon to be 10), three fellow physicians, two nurse practitioners, four specialty nurses, as well as registered dieticians, social workers, speech pathologists and case workers who actively participate in patient care through a team approach.

Adult Hepatologist

• Dr. Sara Naimimohasses, MBBCh, PhD: Dr. Sara Naimimohasses joined the Division of Gastroenterology and Hepatology as a Clinical Assistant Professor after completing a fellowship in Transplant Hepatology at the University of Toronto, in Canada. She received her MD from Trinity College Dublin in Ireland, after which she completed her higher specialist training with dual certification in Gastroenterology and Internal Medicine at the Royal College of Physicians in Ireland. During her training she worked as a lecturer in clinical medicine and completed a PhD in Inflammaging and Immune Dysfunction in Metabolic Dysfunction Associated Steatotic Liver Disease  (MASLD), from Trinity College Dublin. Dr Naimimohasses’ clinical and research interests include metabolic liver disease, principally, MASLD.

 

Gastroenterologist Information:

Pediatric

• The Division of Gastroenterology, Hepatology, Pancreatology, and Nutrition is the state’s only tertiary academic care program committed to providing the highest available level of care to children with disorders of the digestive system, liver, and pancreas.  The Clinical services include several multidisciplinary care services including Eosinophilic Gastrointestinal Disorders Clinic, Pediatric Feeding Clinic, Fontan Clinic, IBD clinic, Aerodigestive and Tracheostomy Clinic among others.  The division has the National Pancreas Foundation approved Pancreas Center of Excellence designation, held only by a few pediatric hospitals in the country.   The division currently has nine physicians (soon to be 10), three fellow physicians, two nurse practitioners, four specialty nurses, as well as registered dieticians, social workers, speech pathologists and case workers who actively participate in patient care through a team approach.

Adult

• With nearly 25 faculty members, the Division of Gastroenterology and Hepatology has exceptional achievements in research, patient care and teaching, as well as a distinguished record of national and international leadership. As part of the James A. Clifton Digestive Health Center, the division provides high-quality clinical care to patients with gastrointestinal, liver, and nutritional diseases in a multidisciplinary environment. Divisional faculty play an important role in educating and mentoring medical students, residents, fellows, and other health care professionals. The division is actively involved in clinical and basic science, with a focus on further understanding gastrointestinal and liver diseases and helping to design improved treatment options for patients with these illnesses.

 

Dermatologist Information:

• The Department of Dermatology takes pride in offering the highest quality medical and surgical care for diseases and conditions of the skin, hair, and nails. Our recognized leaders in skin health offer services for adults, adolescents, and children. Experts from the Department of Dermatology, many who are conducting leading-edge research in the field, offer world-class care to patients with skin diseases and conditions. In addition, the University of Iowa Health Care is an important gateway for patients interested in participating in clinical trials.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Founded in 1922, the Department of Otolaryngology at the University of Iowa Hospitals and Clinics is one of the oldest in the United States and one of the most comprehensive in the world. Our institute is among the largest of its kind and is a world-class facility covering an area of 40,000 square feet and housing 26 exam rooms, a surgery center, and separate reception areas for different groups of patients. Clinical research centers include: a Balance Disorders Center, a Cochlear Implant Center, and a Voice and Swallowing Center.

Since 1882, the University of Iowa College of Dentistry and Dental Clinics has been a leader in patient care, dental education, and oral science research, and as the only dental school in the State of Iowa, we are a source of great strength and pride for the state. As an essential part of the University of Iowa academic health campus, our dental clinics have more than 170,000 patients visits per year. The college also has 26 community programs focused on children, patients with special needs, and seniors, including an award-winning Geriatrics Mobile Dental Unit. Our dental clinics are an essential resource to the state helping people and communities meet their dental care needs.

 

Genetic Counselor Information:

• Moon Ley Tung: Dr. Moon Ley Tung is an Assistant Professor in the Division of Medical Genetics and Genomics at the University of Iowa with an interest in clinical translational research in inherited bone marrow failure syndromes (IBMFS) and germline predisposition to hematological malignancies. She has been involved in the diagnosis and management of TBD patients since 2019 when she was practicing as an Adult Hematologist at the National University Hospital Singapore (NUHS) in Singapore. During her Medical Genetics and Genomics residency at the University of Iowa, she has developed a clinical working group that reviews and provides access to genetic testing for patients with suspected IBMFS and many of these patients were diagnosed with an underlying TBD. Since her appointment as a tenure-track faculty at the University of Iowa in 2022, Dr Tung has established a clinical translational laboratory that also provides research opportunities to TBD patients and this has resulted in a biobank of cultured skin fibroblasts from TBD patients. Through her research laboratory, Dr Tung was able to help resolve and re-classify variants of uncertain significance (VUS) in a TBD gene using long read, nanopore based whole genome sequencing for a family presenting with bone marrow failure. Her clinical practice extends beyond the pediatric department and she has collaborated with providers from Internal Medicine (Pulmonology) to provide clinical evaluation and genetic testing for adult patients with suspected familial pulmonary fibrosis, leading to the diagnosis of TBD in many of these patients. Given the unique setting of her clinical practice, Dr Tung is able to provide transitional care for pediatric patients as they transition into adulthood.

Pediatrics/ Adult Genetic Counselor

• Georgianne Younger, CGC: Georgianne Younger is a Licensed Genetic Counselor at the Stead Family Children’s Hospital with a special clinical interest in the genetics of hematological disorder. Apart from providing genetic counseling to the Iowa Newborn Screening program, Georgianne also provides pre and post-test counseling for germline genetic testing for hematological disorders and coordinates additional ancillary test such as telomere testing (via flow-FISH methodology) and chromosomal breakage analysis.

Cancer Genetic Counselor

• Madeline VanDerGraaf: Madeline VanDerGraaf is genetic counselor at the Holden Comprehensive Cancer Center with a specific clinical interest in germline predisposition to hematological malignancies. Apart from providing pre and post-test counseling for germline genetic testing for cancer predisposition syndromes, Madeline also provides education to patients on inherited bone marrow failure syndromes and coordinates additional ancillary test such as telomere testing (via flow-FISH methodology) and chromosomal breakage analysis. She also provides in-patient consultation for urgent cases that require a skin punch biopsy to expedite germline genetic testing in patients with hematological malignancies and planned for an allogeneic stem cell transplantation from a related donor.

 

Social Worker Information:

• The Department of Psychiatry at the University of Iowa offers the most comprehensive mental health services in the state. Skilled psychiatrists, psychologists, nurses, occupational and recreational therapists, and social workers comprise multidisciplinary teams that provide state-of-the-art care for patients. Social workers are an integral part of the Department of Pediatrics and Internal Medicine and provide care to all the patients at the University of Iowa Health Care.

 

Additional specialists at center:

 

Pediatric Immunologist

• Diana K. Bayer, DO: Diana K. Bayer is clinical associate professor in pediatric allergy/immunology with an interest in inborn errors of immunity, including those with telomere abnormalities. The University of Iowa Stead Family Children’s Hospital is a primary immunodeficiency treatment consortium (PIDTC) center, of which Dr. Bayer serves as sub-I and primary immunologist and collaborates nationally and internationally to provide the best care for patients with inborn errors of immunity. She is the medical director for the state of Iowa newborn screening for severe combined immunodeficiency (SCID). Dr. Bayer has a long-standing history of mentoring trainees at all levels of training and serves as the associate program director for the University of Iowa allergy/immunology fellowship program.

 

Pediatric Neurologist

•  Sreenath Thati Ganganna, MBBS: Sreenath Thati Ganganna is a Clinical Associate Professor in the Division of Child Neurology at the University of Iowa, where he serves as the Clinical Director and Program Director of the Epilepsy Fellowship. The University of Iowa is an NAEC-accredited Level 4 Epilepsy Center. His clinical and academic interests include the presurgical evaluation of children with drug-resistant epilepsy, invasive EEG monitoring, neurostimulation therapies, epileptic encephalopathies, and the ketogenic diet. Dr. Thati Ganganna is deeply committed to neurology education and has mentored child neurology residents, epilepsy fellows, and medical students over the past eight years. He is the principal investigator of a multicenter research project focused on establishing a virtual platform for pediatric epilepsy surgery case conferences and serves as a co-investigator on an ongoing study evaluating adrenal function in patients with infantile spasms. He is also excited to participate in the current study on telomere biology, contributing insights on the neurological aspects.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

 

Since 1882, the University of Iowa College of Dentistry and Dental Clinics has been a leader in patient care, dental education, and oral science research, and as the only dental school in the State of Iowa, we are a source of great strength and pride for the state. As an essential part of the University of Iowa academic health campus, our dental clinics have more than 170,000 patients visits per year. The college also has 26 community programs focused on children, patients with special needs, and seniors, including an award-winning Geriatrics Mobile Dental Unit. Our dental clinics are an essential resource to the state helping people and communities meet their dental care needs.

The mission of the University of Iowa Department of Ophthalmology and Visual Sciences is to provide the highest quality, accessible and cost-effective patient care while contributing to the global effort to alleviate all diseases of the eye through teaching and research since 1925. In an average year, patient visits per sub-specialty are approximately: Cornea: 7,000; Comprehensive Ophthalmology: 13,000; Glaucoma: 6,000; Neuro-Ophthalmology: 3,000; Oculoplastic Surgery: 4,700; Pediatric Ophthalmology: 8,000; Retina/Vitreous: 16,000 and Vision Rehabilitation: 2,800.

Contact Information: 

[email protected]

 

Informational website: 

https://www.kumc.edu/school-of-medicine/academics/departments/internal-medicine/divisions/hematologic-malignancies-and-cellular-therapeutics.html

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Anurag Singh: Dr. Singh is an experienced hematologist-Oncologist and a stem cell transplant physician. He is also the team lead for the Hereditary Hematologic Malignancy program at University of Kansas Medical Center. He also holds a certification in  genomic cancer risk assessment (GCRA). He has been an author/co-author of over 75 peer-reviewed publications . He provides specialized care to adult individuals with TBD including stem cell transplant for those with hematologic complications. He became interested in this area after taking care of a patient with TBD and AML who needed a stem cell transplant. He has a special interest in optimization of stem cell transplant for adults with TBD including appropriate conditioning regimens and GVHD prophylaxis.
• Haitham Abdelhakim: Dr. Abdelhakim is an adult hematologist and BMT physician at KUMC . He also runs a lab where he studies the interaction of acute myeloid leukemia cells with bone marrow microenvironment  focusing on translational cell therapeutics. He is a part of hereditary hematologic malignancy program at KUMC where he sees patients with TBD and provides comprehensive care.
• Jeffrey Weitzel, MD: Dr. Jeffrey N. Weitzel is Professor and founding Director, Division of Precision Prevention at KUMC. Board Certified in Medical Oncology and Clinical Genetics, he has been pioneering the implementation of genetics and genomics in clinical care. He is involved with the TBD/hereditary hematologic malignancy program where he provides his input on variants possibly related to TBD.

 

Bone Marrow Transplant Physician Information:

• Anurag Singh: Dr. Singh is an experienced hematologist-Oncologist and a stem cell transplant physician. He is also the team lead for the Hereditary Hematologic Malignancy program at University of Kansas Medical Center. He also holds a certification in  genomic cancer risk assessment (GCRA). He has been an author/co-author of over 75 peer-reviewed publications . He provides specialized care to adult individuals with TBD including stem cell transplant for those with hematologic complications. He became interested in this area after taking care of a patient with TBD and AML who needed a stem cell transplant. He has a special interest in optimization of stem cell transplant for adults with TBD including appropriate conditioning regimens and GVHD prophylaxis.
• Haitham Abdelhakim: Dr. Abdelhakim is an adult hematologist and BMT physician at KUMC . He also runs a lab where he studies the interaction of acute myeloid leukemia cells with bone marrow microenvironment  focusing on translational cell therapeutics. He is a part of hereditary hematologic malignancy program at KUMC where he sees patients with TBD and provides comprehensive care.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Mark Hamblin: Dr. Hamblin is Associate Professor, and the Director of the KUMC  ILD and Rare Lung Disease Program. He cares for patients with short telomere syndrome and associated pulmonary fibrosis,  inflammatory interstitial lung diseases, along with rare parenchymal lung diseases.
• Sahil Pandya: Dr. Pandya is an Assistant professor of medicine . His clinical focuses of interest include  Interstitial Lung Disease including those seen in patients with TBD. He also specializes in Rare Lung Diseases within the subspecialty of Pulmonology.

 

Hepatologist and/or Liver Transplant Physician Information:

• Ryan Taylor: Dr. Taylor is Professor of Medicine in the Division of Gastroenterology/Hepatology, Department of Internal Medicine, at the University of Kansas School of Medicine where he is Medical Director of Liver Transplantation and Medical Director of Hepatology. He sees patients with a variety of liver ailments including those with liver disease secondary to TBD.

 

Gastroenterologist Information:

• Ajay Bansal: Dr. Bansal is the Medical Director of Gastroenterology Cancers Prevention Clinic and a Professor of Medicine in the Department of Gastroenterology. He has a special interest in inherited diseases predisposing to Gastrointestinal cancers including TBDs.

 

Dermatologist Information:

• Adela Rambi Cardones: Dr. Adela Rambi G. Cardones is a Tenured Professor and Chief of the Division of Dermatology. She is a Clinician-Investigator with expertise in complex medical dermatology and inpatient dermatology. She has special interest in dermatological complications in patients with inherited disorders including TBD.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Kiran Kakarala: Dr. Kakarala is Professor and Director of the Fellowship in Head and Neck Surgical Oncology . His clinical expertise includes the surgical management of benign and malignant conditions of the head and neck, including oral and throat cancers, thyroid, parathyroid, skin, and salivary gland tumors.

 

Genetic Counselor Information:

• Devin Cox: Devin Cox is certified genetic counselor with a special interest in germline conditions predisposing to hematologic diseases. She is a part of KUMC hereditary hematologic malignancy program. She participates in genetic testing of patients with suspected TBD and cascade testing for family members.

 

Social Worker Information:

• Jennifer McCabe: Jennifer is a Licensed Specialist Clinical Social Worker for the Division of Hematologic Malignancies. She works with patients seen in the BMT clinic including those with TBD and provides support for the program.

 

Additional specialists at center:

 

We have multiple providers in all of the listed specialities including Immunology, Ophthalmology, Endocrinology, Neurology, Nutrition, reproductive endocrinology, Ob/Gyn,  Palliative care , Urologist and surgical oncology.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam
• Vitreoretinal surgery

 

We currently do not have a lung transplant program . However, our Pulmonary team collaborates with other transplant programs to provide comprehensive care before and after transplant. We have multidisciplinary care for them including provision for modalities like ECP etc.

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Julia Montoro Gómez: In 2022, we established Spain’s first dedicated Hematological Hereditary Cancer and Genetic Counseling Unit at Vall d’Hebron University Hospital. Within this dedicated unit, we created a  specialized, multidisciplinary adult clinic focused entirely on telomere biology disorders (TBDs). This unit is formed by a network of experts across hematology, molecular biology, pulmonology, hepatology, dermatology, and genetic counseling to ensure comprehensive patient care. Currently, our unit manages the largest cohort of adult-onset TBD patients in the country. This centralized model allows us to optimize patient care.

 

Bone Marrow Transplant Physician Information:

• David Valcárcel, MD PhD: Dr. Valcárcel is the Section Chief of Intensive Hematology and directs the Transplant and Cell Therapy Unit at Vall d’Hebron Hospital, overseeing the specialized evaluation and hematopoietic stem cell transplantation (HSCT) of patients with severe bone marrow failure, including those with underlying TBDs. Furthermore, he is the coordinator of the Myeloid Diseases Group; his clinical leadership ensures integrated, multi-organ long-term follow-up to improve post-transplant outcomes in TBD population.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Íñigo Ojanguren, MD PhD: Dr. Ojanguren is a pulmonologist specializing in interstitial lung diseases (ILD) who handles the respiratory screening and long-term management at our TBD clinic. He directly manages the diagnostic workup and monitoring of TBD-associated pulmonary fibrosis, ensuring early detection of progressive lung disease and coordinating lung transplant evaluations when required.

 

Hepatologist and/or Liver Transplant Physician Information:

• Juan Bañares, MD PhD: Dr. Bañares is a hepatologist specializing in intrahepatic vascular disorders who leads liver screening and surveillance at our TBD clinic. He focuses on diagnosing and managing TBD-specific hepatic complications. He recently received the “Daniel Alagille Award 2026” for the study of liver disease in TBD. 

 

Dermatologist Information:

• Gloria Aparicio, MD PhD: Dr. Aparicio is a dermatologist who manages skin, nail, and mucosal surveillance at our multidisciplinary TBD clinic. She conducts regular screening, tracking the classic manifestations alongside screening for early-onset squamous cell carcinomas.

 

Genetic Counselor Information:

• Sara Torres-Esquius, CGC: Sara Torres-Esquius is the first genetic counselor in Spain specialized in hematological malignancies, with a particular focus on TBD. She coordinates pedigree analysis, familial risk assessment, and helps patients understand complex genetic information while accompanying them through the processes. Her practice focuses on genetic variant curation, implementing cascade testing for at-risk relatives, and delivering specialised counselling tailored to the complex multi-organ and hereditary implications of TBDs.

 

Vall d’Hebron University Hospital (VHUH) is the second largest tertiary hospital in Spain and is recognized for its expertise across all medical specialties. Complex cases are routinely discussed in multidisciplinary tumor boards and virtual expert panels to ensure optimal decision-making. This integrated approach guarantees comprehensive, high-quality care for patients requiring highly specialized management. For exceptionally rare or ambiguous cases, our unit leverages an active collaboration with the Mayo Clinic group to share expertise and review clinical management.

 

Additional specialists at center:

 

While the following specialists are not directly integrated into our TBD dedicated clinics, we hold biweekly multidisciplinary meetings in which the appropriate experts participate whenever required.

• Dr. Javier de Latorre: Gynecologist with expertise in gynecologic oncology. 
• Dr. Cristina Berastegui: Specialist in lung transplantation. 
• Dr. Blanca Borràs: Specialist in Preventive Medicine. She is responsible for ensuring that patients’ vaccinations are up to date.
• Dr. Alba de Pablo: Maxillofacial Surgeon. She is responsible for the management of patients with congenital disorders.

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam 
• Laser photocoagulation and vitreoretinal surgery
• Fibroscan

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology
• Dental assessments
• Eye and retinal exam
• Vitreoretinal surgery

 

We currently do not have a lung transplant program . However, our Pulmonary team collaborates with other transplant programs to provide comprehensive care before and after transplant. We have multidisciplinary care for them including provision for modalities like ECP etc.

Contact Information: 

Hailey Paige Wills, RN

Phone number: (404) 293-4847

 

Informational website: 

https://med.emory.edu/departments/medicine/divisions/pulmonary/comprehensive-lung-center.html

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Nikolaos Papadantonakis, MD, PhD, MSc: Dr. Papadantonakis specializes in the treatment of acute leukemias, myelodysplastic syndromes, myeloproliferative neoplasms and other myeloid hematological malignancies and as such has extensive experience in the hematologic manifestation of TBD. He has worked in tandem with the Emory ILD group and the lung transplant team to evaluate and manage these patients.

 

Bone Marrow Transplant Physician Information:

• Andres Chang, MD, PhD: Dr. Chang specializes in treating patients with hematological malignancies including leukemia and lymphoma. He is a member of the multidisciplinary care team in Winship’s Bone Marrow and Stem Cell Transplant Center. He is also a member of the Cancer Immunology Research Program at Winship.

 

Pulmonologist Physician Information:

Emory Interstitial Lung Disease Group

The Emory Interstitial Lung Disease Group is composed of clinicians with specific interests and experience in the evaluation and management of pulmonary fibrosis which can be part of a telomere biology disorder. The approach is multidisciplinary and collaborative with weekly MDD meetings to help facilitate management among clinical teams.

• Ria Gripaldo (Lead): Dr. Gripaldo received fellowship training for interstitial lung disease and pulmonary vasculitis at the Mayo Clinic. In the Emory interstitial lung disease clinics, we also see patients with telomere biology disorders and regularly collaborate with our colleagues in other departments in order to care for these patients in a comprehensive and multidisciplinary manner. 
• Srihari Veeraraghavan MD
• Lucian Marts MD
• Avanthika Wynn MD
• Advit Dixit MD
• Adam Shaver MD
• Aderajew Amsalu Taddesse,MD
• Sukhmani Boparai MD

 

Lung Transplant Physician Information:

• Lorenzo Zaffiri MD: Dr. Zaffiri is the Medical Director of the Lung Transplant Program at Emory University. A physician-scientist with a strong background in pulmonary and transplant medicine, Dr. Zaffiri has been caring for patients with Telomere Biology Disorders as they undergo the lung transplant process.

 

Hepatologist and/or Liver Transplant Physician Information:

• Giorgio Roccaro, MD and Ram Subramanian, MD: Dr. Roccaro and Dr. Subramanian have experience evaluating and managing patients with telomere biology disorders and hepatic manifestations, including portal hypertension, nodular regenerative hyperplasia, cirrhosis, and transplant-related considerations, with expertise in fibrosis assessment and prognostication using transient elastography (FibroScan) and enhanced liver fibrosis (ELF) testing, and in multidisciplinary collaboration with hematology and pulmonary specialists to address the multisystem complications of disease.

 

Gastroenterologist Information:

• Jasna Beard, MD: Dr. Beard has special interest and expertise in inflammatory bowel diseases and other digestive manifestations of telomere biology disorders.

 

Dermatologist Information:

• Justin Cheeley, MD: Dr. Cheeley specializes in the care of complex dermatology patients including patients with manifestations of telomere biology disorders such as dyskeratosis congenita.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Brian Boyce, MD: Dr. Boyce’s clinical and surgical expertise is in cancerous and non-cancerous tumors of the head and neck, microvascular reconstruction, minimally invasive and cosmetic treatment of parotid tumors, transoral robotic surgery for tumors and sleep apnea.

 

Genetic Counselor Information:

• Jaime Enrique Vengoechea Barrios, MD: Dr. Barrios specializes in clinical genetics for adults, including inherited cancer syndromes, cardiovascular disorders, telomere biology disorders and hereditary neurologic disorders.

 

Social Worker Information:

• Betel Mulugeta and Jennifer Dubois: Ms. Mulugeta and Ms. Dubois have worked with patients who have telomere biology disorders from the pulmonary transplant standpoint helping them navigate the psychosocial and emotional needs of patients and their providers. They help patients access financial assistance, and community support resources within the Emory system and outside the system to ensure consistent care.

 

Additional specialists at center:

 

Thoracic radiology

Eugene Berkowitz, MD PhD

 

Pathology and Laboratory Medicine

Jaishree Jagirdar, MD

Gabriel Sica, MD/PhD

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• DXA scan
• Contrast echocardiography
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Lung Transplantation
• Liver Transplantation
• Interventional Radiology

Contact Information: 

Nicholas J. Gloude, MD

[email protected] 

 

Informational Site:

https://www.rchsd.org/programs-services/cancer-blood-disorders/services/bone-marrow-failure-program/

 

Center Lead: Nicholas J. Gloude, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Nicholas Gloude, MD: Dr. Gloude is an Associate Clinical Professor of Pediatrics and the founding Director of the Bone Marrow Failure Program at Rady Children’s Hospital San Diego. His clinical and research work focuses on pediatric acquired and congenital bone marrow failure syndromes and hematopoietic stem cell transplantation, spanning patient care, program development, and collaborative research aimed at improving diagnostic and therapeutic outcomes. Nationally, he plays active leadership roles in key consortia, including serving on the steering committee of the North American Pediatric Aplastic Anemia Consortium (NAPAAC) where he Co‑Chairs the Inherited Bone Marrow Failure Syndrome Working Group and on the Executive Committee of the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA).
• Helena Yu, MD: Dr. Helena Yu is an Assistant Professor of Pediatrics and physician-scientist at Rady Children’s Hospital San Diego. Dr. Yu provides care for patients with pediatric hematology/oncology disorders as well as patients who are undergoing hematopoietic stem cell transplantation. She is the co-director of the Bone Marrow Failure Program at Rady Children’s Hospital and is a steering committee member for the North American Pediatric Aplastic Anemia Consortium (NAPAAC). She conducts laboratory research on hematopoietic stem cell biology and bone marrow failure at UCSD.

 

Bone Marrow Transplant Physician Information:

• Nicholas Gloude, MD: Dr. Gloude is an Associate Clinical Professor of Pediatrics and the founding Director of the Bone Marrow Failure Program at Rady Children’s Hospital San Diego. His clinical and research work focuses on pediatric acquired and congenital bone marrow failure syndromes and hematopoietic stem cell transplantation, spanning patient care, program development, and collaborative research aimed at improving diagnostic and therapeutic outcomes. Nationally, he plays active leadership roles in key consortia, including serving on the steering committee of the North American Pediatric Aplastic Anemia Consortium (NAPAAC) where he Co‑Chairs the Inherited Bone Marrow Failure Syndrome Working Group and on the Executive Committee of the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA).
• Helena Yu, MD: Dr. Helena Yu is an Assistant Professor of Pediatrics and physician-scientist at Rady Children’s Hospital San Diego. Dr. Yu provides care for patients with pediatric hematology/oncology disorders as well as patients who are undergoing hematopoietic stem cell transplantation. She is the co-director of the Bone Marrow Failure Program at Rady Children’s Hospital and is a steering committee member for the North American Pediatric Aplastic Anemia Consortium (NAPAAC). She conducts laboratory research on hematopoietic stem cell biology and bone marrow failure at UCSD.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Matejka Cernelc-Kohan, M.D.: Dr. Cernelc-Kohan is a pediatric pulmonologist with a special interest in patients at risk for pulmonary fibrosis and follows all of our center’s patients with TBDs.

 

Hepatologist and/or Liver Transplant Physician Information:

• Amber Hildreth, DO and Kimberly Newton, MD: Dr. Hildreth and Newton are pediatric gastroenterologists and transplant hepatologists with a special interest in patients at risk for liver cirrhosis and follow all of our center’s patients with TBDs. Additionally, Dr. Hildreth is a clinician scientist at Rady Children’s Institute for Genomic Medicine.
• Jennifer Berumen, MD: Dr. Berumen is a general surgeon specializing in abdominal transplantation and hepatobiliary (liver and bile duct) surgery. She performs pediatric kidney and liver transplants at Rady Children’s Hospital San Diego and performs adult kidney, liver and pancreas transplants at UC San Diego.

 

Gastroenterologist Information:

• Soma Kumar, MD

 

Dermatologist Information:

• Dawn Eichenfield, MD, PhD is a board-certified pediatric dermatologist and Assistant Professor at UC San Diego and Rady Children’s Hospital San Diego. Her clinical and research interests include genodermatoses and other complex pediatric skin disorders. She is committed to multidisciplinary care and improving outcomes for children with rare genetic diseases, including telomere biology disorders.

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Daniela Carvalho, MD, MMM
• Ethan Frank, MD

 

Genetic Counselor Information:

• Diane Masser-Frye, MS, MSW: Diane is the main genetic counselor for patients in our hematology/oncology clinic. She is an integral member of the cancer predisposition, hemophilia, and bone marrow failure programs.

 

Social Worker Information:

Each patient has an assigned outpatient and inpatient social worker from our hematology clinic following diagnosis. 

 

Additional specialists at center:

Ophthalmology is at UC San Diego Shiley Eye Center. 

 

Amanda Kagan, MD: Dr. Kagan is an adult hematologist at the University of California San Diego who specializes in treating patients with acquired and inherited bone marrow failure as well as myelodysplastic syndrome. We transition our adult patients whom we are no longer able to follow to her as well as refer adult family members of our patients to her for further evaluation and workup if needed. 

 

Monitoring modalities and treatments available at center: 

• Blood tests (including CBC, liver function tests, etc.)
• Bone marrow biopsy
• Lung function testing
• CT / MRI / ultrasound
• Contrast echocardiography
• DXA scan
• Endoscopy
• Nasolaryngoscopy
• Esophagogram
• Hematopoietic cell transplantation
• Liver Transplantation
• Interventional Radiology

 

We do not perform lung transplants at our hospital. Patients will be evaluated at our adult hospital, UC San Diego if needed.