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

 

Center Lead: Dr. Suneet Agarwal, MD, PHD

 

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 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 (NCT01659606) for DC/TBDs since 2012, which treated 40 patients on study and dozens more around the world. 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 TBDs: 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.
• Karyn Brundige, MSN, CPNP: Karyn Brundige is a pediatric nurse practitioner in the Bone Marrow Failure and Myelodysplastic Syndrome Program. Karyn has evaluated and directed the care of numerous patients with TBDs over the past >10 years, including pre-BMT management and care, and participating in multi-disciplinary TBD patient clinics.

 

Bone Marrow Transplant Physician Information:

• Dr. Suneet Agarwal, MD, PHD
• Dr. Leslie Lehmann, MD: Dr. Lehmann served as Clinical Director of BMT at Boston Children’s Hospital, and has been involved in SCT care of multiple patients with TBD over the past decade.

 

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. Christine Lee, MD: Dr. Lee is a transplant hepatologist and Medical Director, Multivisceral and Intestine Transplant Program. She has evaluated and collaborated on the care of several children with liver disease due to TBDs, and co-authored the Liver Transplantation chapter in the TBD Diagnosis and Management Guidelines.
• Dr. Silvia Nastasio, MD: Dr. Nastasio is a transplant hepatology attending physician at Boston Children’s Hospital. 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.
• Dr. Victor Fox, MD: Dr. Fox is Director Emeritus, Gastrointestinal Endoscopy Unit and is the GI consultant to the Vascular Anomalies Center. He has expertise in the endoscopic evaluation and management of children with gastrointestinal bleeding. He has evaluated and collaborated in the care of several 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, DMSc: 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:

• Gwen Muscato, MS, CGC: Gwen Muscato is a certified genetic counselor at 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 Bone Marrow Failure & MDS Program. As part of a multidisciplinary team, she provides counseling for TBD genetics and telomere length evaluation.
• Katie Regan, MS, 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 Clinical Social Worker in the Bone Marrow Failure and Myelodysplastic Syndrome Program and the Hematologic Malignancy Center at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. She provides counseling to patients and families affected by TBD.

 

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 and Ocular Oncology Center. 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: shorttelomereclinic@chop.edu 

 

Informational Site: 

www.chop.edu

 

Center Lead: Dr. 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’s involvement in the TBD field dates back over a decade to some of the earliest Camp Sunshine gatherings of the group then known as DC Outreach. He is the former Interim Director of the CHOP Comprehensive Bone Marrow Failure Center, and currently Associate Section Chief of Cell Therapy and Transplant as well as Medical Director of the CHOP Blood and Marrow Transplant Clinic. He is team leader for the BMF/MDS curative therapies program. He sees patients ranging in age from 0-30 years with TBD’s both in a Hematology-based BMF clinic dedicated to diagnostics and long-term surveillance for patients with TBD’s, and also in the BMT clinic/service, where he personally oversees the transplant course for all patients with TBD’s who need this therapy for BMF or MDS. He runs a research lab that explores mouse models of BMF, including X-linked DC, to determine how TBD mutations within BM mesenchymal niche cells impair the ability to engraft donor BM. Partnering with Dr. Daria Babushok at Penn, he has also helped lead a large-scale study defining unique pathways of compensatory clonal hematopoiesis in patients with TBD’s. 
• 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’s involvement in the TBD field dates back over a decade to some of the earliest Camp Sunshine gatherings of the group then known as DC Outreach. He is the former Interim Director of the CHOP Comprehensive Bone Marrow Failure Center, and currently Associate Section Chief of Cell Therapy and Transplant as well as Medical Director of the CHOP Blood and Marrow Transplant Clinic. He is team leader for the BMF/MDS curative therapies program. He sees patients ranging in age from 0-30 years with TBD’s both in a Hematology-based BMF clinic dedicated to diagnostics and long-term surveillance for patients with TBD’s, and also in the BMT clinic/service, where he personally oversees the transplant course for all patients with TBD’s who need this therapy for BMF or MDS. He runs a research lab that explores mouse models of BMF, including X-linked DC, to determine how TBD mutations within BM mesenchymal niche cells impair the ability to engraft donor BM. Partnering with Dr. Daria Babushok at Penn, he has also helped lead a large-scale study defining unique pathways of compensatory clonal hematopoiesis in patients with TBD’s. 

 

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 diagnosis and manage esophageal, stomach, and colonic diseases. He specifically has performed many esophageal dilations and colonoscopy evaluations for patients with TBD’s.  

 

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.  

 

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: Victoria Dortenzio and Jake Squicciarini 

 

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, has served as the lead social worker for many patients with TBD’s at CHOP over the past 6 years.  

 

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
• Hematology/BMT: Targeted genomic diagnostics, including germline testing 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, MD

 

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.
• 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 bone marrow failure disorders, and has extensive clinical and research experience with patients with telomere biology disorders.

 

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

 

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:

• Ms. Nancy Delaney: Ms. Delaney is a Licensed Social worker with a masters in social work within the Division of 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. Gregory Taio: Dr. Taio 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. He is Division Director of General and Thoracic Surgery and Surgical Director of Liver Transplantation. He has clinical experience with patients with telomere biology disorders.
• 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: 

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: DFLeukemiaReferrals@dfci.harvard.edu 

 

Informational Site: 

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

 

Center Lead: Dr. Christopher
Reilly, MD 

 

Specialists available at center: 

We provide comprehensive, multidisciplinary clinical care through Dana-Farber Brigham Cancer 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 exceptional multispecialty care and incorporates leading-edge technologies in the diagnosis, monitoring, and treatment of patients with TBD. Dr. Reilly’s research focuses on functional characterization of germline telomere maintenance gene variants to enhance  variant interpretation and the biological mechanisms linking impaired telomere maintenance and the pathogenesis of myeloid malignancies. Dr. Reilly became a member of the Team Telomere MAB in 2024.
• 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 Assistant 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 a 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.
• Nirmal S. Sharma, MD: Dr. Nirmal is an Assistant Professor of Medicine at Harvard Medical School and Clinical Director of the Medical Director of the Lung Transplantation Program at Brigham and Women’s Hospital. Dr. Nirmal has extensive expertise in the lung transplantation for pulmonary complications of TBD.
• 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. 

 

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:

• Judy E. Garber, MD, MPH: Dr. Garber is a Professor of Medicine at Harvard Medical School and Chief of the Division for Cancer Genetics and Prevention Program at Dana-Farber. Dr. Garber is an international expert in cancer genetics with extensive expertise in the genetic evaluation of patients and families affected by TBD.
• Huma Q. Rana, MD, MPH: Dr. Rana is an Assistant Professor of Medicine at Harvard Medical School and Clinical Director of the Cancer Genetics and PRevention Program at Dana-Farber. Dr. Rana is a trained medical geneticist with extensive expertise in the genetic evaluation of patients and families affected by TBD.
• 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.
• 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.
• 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.
• 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:

At Dana-Farber, our Adult Social Work Program resides in the Department of Psychosocial Oncology and Palliative Care. 

• Ammy Gonzalez, LCSW and Kristy Katsetos, LICSW are social workers at Dana-Farber who are available to help patients and families find the support and resources they need.

 

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.

 

Palliative Care

The Dana-Farber Department of Psychosocial Oncology and Palliative Care 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 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. 
• Asmaa Ferdjallah:  Dr. Ferdjallah specializes in non-malignant hematology conditions and serves as the Associate Director of the Pediatric Immune Cell Therapy Program. Her clinical practice includes caring for patients with TBD. 
•  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 at Mayo Clinic. My clinical 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 telomere biology disorders. 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 in TBD patients.
• 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.

 

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 physician at Mayo Clinic. My clinical 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 telomere biology disorders. 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 in TBD patients.

 

Pulmonologist and/or Lung Transplant Physician Information:

• Eva M. Carmona: I am a physician-scientist and NIH funded investigator with expertise in immunology and lung fibrosis. I am the director or 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 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 stablish 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, and I have contributed with the dissemination of the practice across all Mayo Clinic sites.
• 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 on 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 an Associate Professor of Medicine with a joint appointment in Health Care Delivery Science. I authored > 90 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. 
• Mark Wylam: I am a seasoned and experienced clinician investigator in pulmonary medicine and thoracic transplantation. I was instrumental in our practice’s recognition of telomere disorders underpinning many patients with interstitial lung disease (ILD). I collated our initial registry of lung patients with ILD and have participated in many of our retrospective and prospective investigations on this topic. I work closely with our hematology group to uncover new insights into the impact of TBD.

 

Hepatologist and/or Liver Transplant Physician Information:

• 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:

Mayo Clinic has a distinguished team of specialists in ears, nose, and throat. While no main contact has yet been identified as part of the TBD clinic, this group of experts possesses deep knowledge and extensive experience in treating rare diseases, and for those facing unique and complex head and neck health challenges. With a commitment to providing exceptional multidisciplinary care, this team is readily available to consult with patients experiencing TBD. 

 

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 two and a half 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.
• Sonia M. Sabrowsky: I am a certified genetic counselor in the Department of Clinical Genomics and Center for Individualized Medicine at Mayo Clinic Arizona. Through our Program for Rare and Undiagnosed Diseases (PRaUD), I provide pre- and post-test genetic counseling for patients with interstitial lung disease and telomere biology disorders, among a variety of other clinical indications. In my role, I assist patients with making informed decisions about genetic testing, understanding their genetic test results, and sharing genetic risk information with their family members.

 

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 worker 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.

 

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: 

Contact ornas2@clalit.org.il

 

Informational Site: 

https://www.schneider.org.il/?CategoryID=1049&ArticleID=3150

 

Center Lead: Dr. Orna Steinberg Shemer

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

Prof. Shai Izraeli, Director of the Hemato-Oncology Division at SCMCI. 

• Dr. Joanne Yacobovich: The head of the pediatric hematology unit and molecular diagnostic laboratory.  Leading the treatment of all patients with hematological disorders in the institute and the CCCTAA national representative. She is also chairing the Israel Society of Pediatric Hematology-Oncology. 
• Dr. Oded Gilad: An attending physician in the hematology unit at SCMCI. 
• Dr. Dafna Brik Simon: An attending physician in the hematology unit at SCMCI. 
• Dr. Shlomit Barzilai-Birenboim: An attending physician, expert in pediatric leukemias and myelodysplastic syndromes at SCMCI.
• 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. Jerry Stein: The head of the pediatric hematopoietic transplant 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. Asaf Yanir:  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, including one physician-scientist who is an expert in BMFs. 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. 

 

Bone Marrow Transplant Physician Information:

• Dr. Jerry Stein: The head of the pediatric hematopoietic transplant 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. Asaf Yanir: An attending physician at the HSCT unit at SCMCI.

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. Dario Prais: Head, pediatric pulmonology institute at SCMCI. 

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:

• Prof. Eyal Raveh: Director of the ENT unit

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. Nofar Marcus 

Endocrinologist: Prof. Shlomit Shalitin 

Neurologist: Dr. Tamar Steinberg 

Gynecology Clinic for Girls and Adolescents: Dr. Michal Eisner 

Urology: Dr. David Ben Meir 

Ophthalmology: Prof. Gad Dotan 

The E. Richard Feinberg Department of Child and Adolescent Psychiatry (Psychological Medicine): Dr. Noa Ben Aroya Milstein

 

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*
• 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.

 

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.

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 Assistants Susan Kirk and 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. Jay Read (local site PI for Dr. Agarwal’s trial, though he will be departing for the University of Michigan at the end of June), 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 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, Hannah Helber, MS, CGC, who has developed a solid understanding of the genetics of the TBDs and their nuances (e.g., anticipation, somatic genetic rescue, variable expressivity), interpretation of telomere length testing, and approaches to genetic diagnosis. The medical staff and genetic counselors in Baylor College of Medicine’s General Genetics Clinic reach out routinely to Dr. Bertuch and Ms. Helber 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.

 

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.

 

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: 

cancerconnect@uwhealth.org

ksmith-simmer@uwhealth.org 

 

Informational Site: 

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

 

Center Lead: Dr. 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 12 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 and sees on average one new patient and one to two follow-up patients being evaluated for or having a diagnosed Telomere Biology Disorder (TBD) each week. In the last two years at the University of Wisconsin-Madison, in collaboration with Kelcy Smith-Simmer, CGC, Dr. Churpek has evaluated 150 new patients suspected of having a TBD and now follows more than 50 families with a TBD. 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 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 two patients with TBD on this regimen 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 Veteran’s Hospital Lung Transplantation Program. Dr. Lowery is dedicated to improving access and optimizing long term outcomes for all patients needing lung transplantation and as such 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. Her team has performed lung transplantation for seven individuals with a TBD in the last year with several others awaiting transplantation or being monitored closely.

 

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 The University of Wisconsin-Madison. He is a hepatologist and liver transplantation expert and is collaborating with Dr. Churpek to begin to identify TBD patients and unique care needs among these patient populations.

 

Gastroenterologist Information:

• Jennifer Weiss, MD, MS: Dr. Weiss is the medical director of the UWHealth Gastroenterology Genetics Clinic. She specializes in the care of patients with diverse hereditary gastroenterology disorders and is collaborating with Dr. Churpek on the gastroenterology needs for patients with TBD.

 

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 is collaborating with Dr. Churpek on the skin surveillance of patients with TBD. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

The University of Wisconsin-Madison/UWHealth 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.  Our ENT Team has detected and treated two in situ oral cancers in our patients post hematopoietic stem cell transplantation. 

 

Genetic Counselor Information:

• Kelcy Smith-Simmer, MMSc, CGC: Mrs. Smith-Simmer is the lead senior genetic counselor focused on hereditary hematology disorders for both adults and pediatrics at The University of Wisconsin/UW Health/UW Health Kids. For adults, she works alongside Dr. Churpek in the Adult Hereditary Hematology and Inherited Bone Marrow Failure Clinic where they jointly evaluate and care for patients and their families suspected of having a TBD. For pediatric patients, she independently evaluates children at-risk or suspected to have TBDs and collaborates with pediatric hematologists/oncologists, led by Dr. Christina Amend, and Dr. Churpek to provide genetic counseling and coordinated care across the age spectrum. 

 

Social Worker Information:

Our social work team is divided into disease-focused entities (i.e., Hematologic Malignancy expert, Benign 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 currently cares for a growing population of children with various hereditary hematologic disorders and malignancies, including a few 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:

• Dr. Subarna Dhital: Dr. Dhital’s clinical interest and practice focuses heavily on managing and caring for patients with low bone mineral density/osteoporosis along with various hereditary endocrine disorders.

 

Adult and pediatric immunology: Led by Drs. Chris Seroogy (pediatrics) and Dan Rosenberg (adult) for expert immunodeficiency care

 

Interstitial lung disease surveillance, diagnosis and management (pulmonology): Led by Dr. Amy Malik

 

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. 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 Generations Fertility care center 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 Radiology is home to partnerships with GE Healthcare to develop and optimize novel imaging protocols

Contact Information: 

 

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 Lead: Dr. Christen Ebens, MD, MPH

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Christen Ebens, MD, MPH: 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. Dr. Ebens is PI of the investigator-initiated allogeneic hematopoietic cell transplant protocol for TBD experiencing bone marrow failure or myelodysplastic syndrome at the University of Minnesota and conducts translational research to understand and improve limitations of current therapies for TBD. She is PI of a study investigating cellular senescence in TBD-associated skin inflammation as an abnormality upstream of cutaneous squamous cell carcinoma development. As a consultant, she serves on the data safety monitoring board for an industry sponsored trial of a telomere elongating agent (Elixirgen Therapeutics). Nationally, Dr. Ebens is an active member of the NIH Clinical Consortium for Care of Telomere Associated Ailments (CCCTAA) as well as contributor to Diagnosis and Management Guidelines, an critical resource of clinicians, patients, and families in the TBD space. 
• 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. 
• Meera Srikanthan, MD, A faculty member of the Pediatric Blood and Marrow Transplant & Cellular Therapy division, with a clinical and research focus on bone marrow failure disorders, including TBD. 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. 
• 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:

• Jakub Tolar, MD, PhD: Dean of the University of Minnesota Medical School with a substantial track record of research and clinical care in rare diseases, including TBD. He is on the Board of Medical Advisors for Team Telomere and was honored for his Excellence in Medicine at this group’s 2022 Dine, Dance, and Donate event. Dean Tolar previously served on the AFM-Telethon Scientific Committee on Gene and/or Cell Therapy of Rare Disorders. He was an initial member of CCCTAA and prior to Dr. Ebens, lead hematopoietic cell transplant for TBD at the University of Minnesota.
• Gregory Vercellotti, MD, co-listed under hematology (adult provider)
• Roy Kao, MD, co-listed under hematology (adult provider)
• Meera Srikanthan, MD, co-listed under hematology (pediatric 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.

 

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. 

 

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 Farr: Megan Farr 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

Contact Information: 

TTAGGGclinic@utah.edu 

 

Center Lead: Jennie Vagher

 

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. 
• 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:

• 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. 
• Barbara Cahill, MD: Dr. Cahill is a lung transplant provider. She is the recipient of the 2019 Thomas H. Caine, MD, Award for Clinical Excellence and is a Burbidge Presidential Endowed Chair. She has special interest in treating advanced lung disease and genetic diseases of the lungs. 

 

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. 

 

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.

Center Lead: Dr. Andrew Courtwright

 

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.

 

Bone Marrow Transplant Physician Information:

• Penn BMT physicians have broad expertise in modern BMT approaches.  A primary indication for BMT for patient 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.

 

Lung Transplant Pulmonologist

• Andrew M. Courtwright, MD, PHD: Dr. Courtwright is a transplant pulmonologist with 8 years of experiences treating lung transplant candidates and recipients with TBD.  He is the co-leader of the Penn TBD Program.  He has published widely on TBD in lung transplantation and is a co-investigator for a multicenter NIH-funded project on telomere length and post-transplant outcomes..

 

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:

We utilize providers in our excellent comprehensive dermatology group, including those with experience in transplant dermatology.

 

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. 

 

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.

 

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. 

Center Lead: Dr. Taizo Nakano, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Taizo Nakano, MD
  • The Taru Hays, MD, Chair of Pediatric Hematology
  • Associate Professor of Pediatrics
  • Program Lead, Bone Marrow Failure
  • Medical Director, Vascular Anomalies Center

 

Bone Marrow Transplant Physician Information:

• Michael Verneris, MD
  • Professor of Pediatrics
  • Director of Bone Marrow Transplantation and Cellular Therapy
  • The Barton Family Endowed Chair of Bone Marrow Transplant

 

Pulmonologist and/or Lung Transplant Physician Information:

• Robin Deterding, MD
  • Director of Breathing Institute at Children’s Hospital Colorado
  • Chair, Children’s Interstitial Lung Disease Research Network
  • Chief, Pediatric Pulmonary Medicine

 

Hepatologist and/or Liver Transplant Physician Information:

• Shikha Sundaram, MD, MSCI
  • Professor, Pediatrics-Gastroenterology, Hepatology and Nutrition

 

Gastroenterologist Information:

• Jason Soden, MD
  • Professor of Clinical Practice, Pediatrics-Gastroenterology, Hepatology and Nutrition

 

Dermatologist Information:

• Anna Bruckner, MD
  • Professor, Dermatology

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Christian Francom, MD
  • Assistant Professor, Otolaryngology – Head and Neck Surgery

 

Genetic Counselor Information:

• Kaylee Dollerschel
  • Instructor, Pediatrics-Clinical Genetics and Metabolism

 

Social Worker Information:

• Kashina Meyers, LCSW
  • Hematology Clinical Social Worker

 

Additional specialists at center:

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

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: Dr. Alexandra Satty, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

Pediatric:

• 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. During her fellowship, Dr. Satty worked very closely with Dr. Farid Boulad to learn the intricacies of managing patients with bone marrow failure syndromes – including telomere biology disorders – before, during, and following hematopoietic stem cell transplantation. Since joining the team at CCMC, Dr. Satty continues to work closely with Dr. Jeffrey Lipton and Dr. Jonathan Fish, experts who each have decades of experience managing patients with telomere biology disorders.
• 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.
• 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.

 

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:

• 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. During her fellowship, Dr. Satty worked very closely with Dr. Farid Boulad to learn the intricacies of managing patients with bone marrow failure syndromes – including telomere biology disorders – before, during, and following hematopoietic stem cell transplantation. Since joining the team at CCMC, Dr. Satty continues to work closely with Dr. Jeffrey Lipton and Dr. Jonathan Fish, experts who each have decades of experience managing patients with telomere biology disorders.
• 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 four 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

 

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

 

Gastroenterologist Information:

Pediatric Gastroenterology:

• 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.

 

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 Otolaryngology:

• 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 Otolaryngology:

• Douglas Frank, MD

 

Oral Medicine and Dental Pathology:

• John Fantasia, DDS

• Kathleen Schultz, DMD

 

Genetic Counselor Information:

• Ariella Reiter, MS, GC: Ariella Reiter, MS, GC is the genetic counselor (GC) for the Bone Marrow Failure Program at Cohen Children’s Medical Center. The GC has been an integral part of the Bone Marrow Failure Program for the past seven years. When a TBD is suspected, the GC gathers the family history, explains the genetic testing, purpose, and process, and obtains informed consent from the patient/parents. The GC also orders the genetic testing and is involved in the interpretation and disclosure of the results.

 

Social Worker Information:

• Nancy Barbach, LCSW:  Nancy Barbach, LCSW has been working in the Division of Pediatric Hematology/Oncology and Stem Cell Transplantation for over 30 years. The bone marrow failure program has been a special area of interest, given the expertise of our providers and the number of patients served.

 

Additional specialists at center:

Ophthalmology: 

• Sylvia Kodsi, MD: Dr. Sylvia Kodsi has not only provides 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
• Zeynep Yesim Kucuk, 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

 

Contact Information: 

Please use segrematologia@gaslini.org

 

Informational Site: 

https://www.gaslini.org/ 

 

Center Lead: Dr. Carlo Dufour

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Carlo Dufour
• Dr. Francesca Fioredda
• Dr. Maurizio Miano
• Dr. Erika Massaccesi
• Dr. Luca Arcuri
• Dr. Loredana Amoroso

Long-term experience in the management of TBD patients; participation in international congresses and scientific publications related to TBD; collaboration in international TBD registries.

 

Bone Marrow Transplant Physician Information:

• Dr. Maura Faraci 
• Dr. Filomena Pierri 
• Dr. Stefano Giardino 

Long-term experience in HSCT in Constitutional marrow failure and inTBD patients 

They have been regularly providing consultations for TBD patients since 5-10 years

 

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

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

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. Lucia Semino 

She regularly provides 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 and Dr. Davide Buffi

Nephrologist: Dr. Enrico Verrina 

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. Monica Muraca and Dr. Andrea Beccaria

 

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: 

Patients: BMFreferrals@stjude.org 

Physicians: www.stjude.org/BMFconsult 

 

Informational Site: 

https://www.stjude.org/research/progress/2023/tailoring-treatment-for-bone-marrow-failure-syndromes.html

 

Center Lead: Dr. Marcin Wlodarski

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Dr. Marcin Wlodarski, BMF specialist, Director of the Bone Marrow Failure Program 
• Michelle Boals, BMF expert nurse practitioner
• Nathan Gray, BMF expert physician assistant 
• Dr. Alyssa Kennedy, BMF and leukemia specialist
• Dr. Raul Ribeiro, leukemia specialist
• Dr. Clifford Takemoto, BMF and hematology specialist

 

Bone Marrow Transplant Physician Information:

• Dr. Amr Quidemat
• Dr. Senthil Bhoopalan
• Dr. Brandon Triplett
• Dr. Akshay Sharma

 

Pulmonologist and/or Lung Transplant Physician Information:

Local specialists at LeBonheur Children’s Hospital Memphis, where we send our St. Jude patients for specialized care. 

 

Hepatologist and/or Liver Transplant Physician Information:

Local specialists at LeBonheur Children’s Hospital Memphis, where we send our St. Jude patients for specialized care. 

 

Gastroenterologist Information:

Local specialists at LeBonheur Children’s Hospital Memphis, where we send our St. Jude patients for specialized care. 

 

Dermatologist Information:

Consultants at St Jude and Local specialists at LeBonheur Children’s Hospital Memphis & Mid-South Dermatology, where we send our St. Jude patients for specialized care. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

Consultants at St Jude and Local specialists at LeBonheur Children’s Hospital Memphis, where we send our St. Jude patients for specialized care. 

 

Genetic Counselor Information:

• Sara Lewis, MS, LCGC, Chief Genetic Counselor of BMF Program
• Passant Shaker, MS, LCGC, Genetic counselor, BMF/Hematology 

 

Social Worker Information:

• Amanda Pullen, MSSW, LCSW

 

Additional specialists at center:

Pathologists with deep expertise in marrow failure and MDS

CRAs for enrollment of patients on biobanking protocols

Biobanking personnel 

 

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
• Hematopoietic cell transplantation
• Interventional Radiology

 

All the other modalities are available at our local pediatric hospital, LeBonheur Children’s Hospital Memphis, where we send our St. Jude patients for specialized care. 

We offer routine liver elastography with abdominal ultrasounds for patients with TBD. We are also able to complete Dental assessments within our institution with a dedicated Dental Clinic. Routine Ophthalmology exams can be completed in our institution and complete retinal exams can be referred out to a local specialist in Memphis.

Contact Information: 

Email: madrian@ukaachen.de or fbeier@ukaachen.de, Phone: +49-241-80-89806

 

Informational Site: 

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

 

Center Lead: Dr. Fabian Beier

Specialists available at center: 

Hematologist and/or Oncologist Information:

• 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:

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

 

Hepatologist and/or Liver Transplant Physician Information:

• Prof. Marie Berres: Experienced gastroenterologist and hepatologist with years of expertise. Numerous publications in the field of liver diseases,especially liver fibrosis. 

 

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. Albert Rübben: Experienced dermatologist with years of expertise. Numerous publications in the field of skin diseases. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Dr. med. Dr. med. dent. Mark Ooms: Experienced Oral and Maxillofacial Surgeon. Co-Author in an abstract for telomere length screening to identify TBD related head and neck cancers.

 

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 

 

Additional specialists at center:

Reproductive Endocrinologist: Dr. Nele Frerksen-Kirschner

Obstetrician / Gynecologist: Dr. Nele Frerksen-Kirschner

Neurologist: Prof. Florian Holdbernd

Ophthalmologist: Prof. Matthias Fuest

 

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

In Germany, Hannover stands out as the leading center with extensive experience and expertise in lung transplantation procedures. Patients requiring lung transplantation are typically referred to Hannover due to its specialized capabilities in this field. Additionally, local supervision and coordination for these patients are overseen by Marena Niewisch, a specialist in TBD in Hannover, ensuring seamless continuity of care and support throughout the transplantation process.

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 is equipped to handle a wide range of medical conditions and diagnostic needs, offering patients access to advanced imaging modalities such as all types of MRI, CT scans, PET-CT, ultrasound, and more. Additionally, our in-house surgical departments encompass all specialties, including but not limited to general surgery with liver transplantation, orthopedic surgery, neurosurgery, and cardiovascular surgery.

Contact Information: 

Nicholas J. Gloude, MD

ngloude@rchsd.org 

 

Informational Site:

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

 

Center Lead: Dr. Nicholas Gloude, MD

 

Specialists available at center: 

Hematologist and/or Oncologist Information:

• Nicholas Gloude, MD: Dr. Gloude is a pediatric hematologist/oncologist and bone marrow transplant physician with a particular interest in acquired and inherited bone marrow failure syndromes, including telomere biology disorders. Following his arrival at Rady Children’s Hospital in 2017, he started the bone marrow failure program, which aims to provide comprehensive care to patients with acquired and inherited bone marrow failure syndromes. Our center is a member of the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) for which Dr. Gloude serves on the executive committee. 

 

Bone Marrow Transplant Physician Information:

• Nicholas Gloude, MD: Dr. Gloude is a pediatric hematologist/oncologist and bone marrow transplant physician with a particular interest in acquired and inherited bone marrow failure syndromes, including telomere biology disorders. Following his arrival at Rady Children’s Hospital in 2017, he started the bone marrow failure program, which aims to provide comprehensive care to patients with acquired and inherited bone marrow failure syndromes. Our center is a member of the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) for which Dr. Gloude serves on the executive committee. 

 

Pulmonologist and/or Lung Transplant Physician Information:

• Matejka Cernelc-Kohan, M.D.: Dr. Cernelc is a pediatric pulmonologist with a special interest in pulmonary fibrosis. 

 

Hepatologist and/or Liver Transplant Physician Information:

• Kimberly Newton, MD

 

Gastroenterologist Information:

Do not have a specific gastroenterologist we work with but have a large group. 

 

Dermatologist Information:

Do not have a specific dermatologist we work with but have a large group. 

 

Otolaryngologist and/or Oral Medicine specialist Information:

• Daniela Carvalho, MD, MMM

 

Genetic Counselor Information:

• Diane Masser-Frye: Diane is the main genetic counselor for patients in hematology/oncology. She is part of our cancer predisposition, hemophilia, and bone marrow failure clinics. 

 

Social Worker Information:

We have several social workers in our hematology/oncology clinic and each patient is assigned a social worker following diagnosis. 

 

Additional specialists at center:

Ophthalmology is at UC San Diego Shiley Eye Center. 

 

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 do lung transplants at our hospital. Often patients who are teenagers will be evaluated at our adult hospital, UC San Diego if needed. 

Contact Information: 

Noa Hourvitz, Genetics Institute and Genomic Center, TASMC, Tel Aviv, Israel.

Please send an email to: Gen-telomere@tlvmc.gov.il.

 

Informational Site:

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

 

Center Lead: Noa Hourvitz

 

Specialists available at center: 

Medical Geneticist and Pediatrician Information: 

• Dr. Daphna Marom: Deputy Director & Head of Pediatric Genetics Clinic at the Genetics Institute and the Genomic Center at Tel Aviv Sourasky Medical Center (TASMC). Dr. Daphna Marom is a Teaching Lecturer Associate at the Faculty of Medical and Health Sciences in Tel Aviv University with a vast experience in clinical pediatric and adult genetics. She is a member of The American & European Societies of Human Genetics, the Israeli Medical Genetics Association, the Israel Medical Association and the Israeli Society of Clinical Pediatrics. She has published over 35 original peer reviewed papers and is involved in the design and implementation of advanced genomic technologies in acute care clinical diagnostics on a national scale. Her main focus is directed at the detection and characterization of rare diseases and phenotypes from various medical disciplines, using next generation technologies, coupled with functional analyses to uncover novel disease pathways. In addition our team is exploring the application and assimilation of modalities such as telemedicine and digital platforms for the delivery of genetic care. 

 

Genetic Counselor Information:

• Ms. Noa Hourvitz: Certified Genetic Counselor at the Genetics and Genomics Institute at TASMC and a PhD. Student under the supervision of Prof. Yehuda (Dudy) Tzfati, an expert in telomere biology, Dept. of Genetics, the Hebrew University of Jerusalem. Noa’s main clinical interest is the diagnosis and management of TBDs. Her PhD research focuses on RTEL1 mutations identified in Hoyeraal-Hreidarsson Syndrome (HHS) and how the RTEL1-deficiency in patient cells causes telomere dysfunction and severe disease. 

 

Pulmonologist Information:

• Dr. Avraham (Rami) Unterman: Dr. Unterman is the head of the Pulmonary Fibrosis Center of Excellence and the Genomic Research Laboratory for Lung Fibrosis at Tel Aviv Medical Center (TASMC). 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. Daphna Marom, Ms. Noa Hourvitz and Dr. Rami Unterman work in close collaboration, and collaboration with an adult hematology expert is underway. 

 

TASMC is one of the largest tertiary medical centers in Israel, located in Tel Aviv and serves the largest densely populated area of central Israel. It is a referral center for the entire state of Israel the Palestinian Authority and Gaza. Our center is also a point of care for people seeking medical advice from underprivileged countries. As such, all medical specialties and sub-specialty comprehensive clinical services are available, including pediatric and adult hematologists/oncologists/gastroenterologists and hepatologists/BMT units/solid organ transplants/all imaging modalities/Dermatologists/ENT, etc. All are available for consultations via personal communication and ad hoc clinical multidisciplinary meetings. In parallel with the growth of our service, we plan to form a comprehensive multidisciplinary team encompassing all relevant specialists to provide the required care for the broad spectrum of clinical manifestations typical of TBDs.

 

Patients with familial IPF, syndromic IPF and/or disease-onset at a young age are referred from the Pulmonary Fibrosis Center of Excellence to our collaborative TBD clinic. All children with MDS and/or BMF and adults with hematologic disease (treated at TASMC) suggestive of TBD are also referred to the genetics institute. 

 

Although our TBD clinic has only recently been established, we already had 20 families undergoing multidisciplinary evaluation. Our aim is to expand our service in the upcoming months, first by referrals from the IPF center, where dozens of familial cases are being followed. We are also focusing on increasing awareness for TBDs, and for the growing need for testing and surveillance in TBD patients and their at-risk family members.

 

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.