Mission & Vision

The mission of Team Telomere is to empower individuals worldwide impacted by Telomere Biology Disorders with information and support services, to advance improved diagnosis through education and advocacy, and to accelerate the medical and scientific community’s research in finding causes, effective treatments, and a path towards a cure. 

The vision of Team Telomere is to see a world where every person impacted by Telomere Biology Disorders – including the affected individuals, caregivers, researchers, and clinicians – has accessible care, community, and resources, with the goal of positively changing the course of this disease, driving toward improved treatments and ultimately one day a cure.

Our Staff

 Katie Stevens

Katie Stevens

Executive Director

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Katie lives in Northern Idaho with her husband, Josh, and their four children. Their oldest child was diagnosed with bone marrow failure when he was 11. Three months after ATG treatment his telomere length was tested. They came back at less than 1%. Katie and her son moved to Boston in July 2015 so that he could undergo a stem cell transplant using a protocol written for patients with telomere biology disorders. 

Katie’s advocacy for her child’s life led to her role as Executive Director, Team Telomere’s first full time employee. This role has taken her all over the world, helping unite those living with telomere biology disorders via outreach and funding research. Her passion is to create collaboration amongst TBD researchers, and making sure the patient’s voice is heard first. She is published in an international peer-reviewed journal, Angiogenesis, and has presented abstracts at the Cold Spring Harbor, Telomeres & Telomerase conference and the European Molecular Biology Organization (EMBO) telomere conference and was the first ever patient advocate at the Transplantation and Cellular Therapy Meetings. Outside of telomeres, Katie loves collaborating with the greater rare community, believing firmly that though we are all unique all of our rare stories carry the roadmap that will lead to cures. Katie works on the Rare Foundation Leadership Council as well as on the Board of Directors for Global Genes. Katie is NORD member leader, and a 200 hour yoga teacher. Her passion for yoga and meditation has led to yet another avenue of service teaching to caregivers, patients and the bereaved in the rare disease community. 

Katie’s team was recently awarded the Chan Zuckerberg Initiative Rare as One grant, which will help Team Telomere create DEI focused efforts and Centers of Excellence. This will help her organization, and many rare disease organizations like hers, to serve all members of their community to the highest quality. Through Katie’s lead on these efforts, she hopes to expand the capacity and reach of her organization to pave the way for the rare disease communities to move forward toward accessible and equitable diagnostics, treatments and cures.

“You can’t do anything about the length of your life, but you can do something about its width and depth.”

Miriam Figueira, PhD

Miriam Figueira, PhD

Scientific Program Manager

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Miriam Figueira is a biomedical scientist with a Ph.D. from the Federal University of Rio de Janeiro in Brazil, her hometown. Her academic journey includes pivotal research conducted at Stanford University’s Cystic Fibrosis laboratory. Following her Ph.D., Miriam relocated to the United States to conduct her post-doctoral research at the University of North Carolina’s renowned Cystic Fibrosis Center.

In addition to being a rare disease scientist, Miriam also has a personal journey as a patient living with the genetic lung disease Cystic Fibrosis. This dual role makes her a passionate advocate who understands the importance of fostering collaborations and the urgency of advancing research for rare disease communities, such as the TBD community.

Miriam’s professional experience is further marked by her contributions to clinical trial development, providing genomic diagnostic services to patients, and conducting cutting-edge research in pre-clinical gene therapies. Her leadership skills have been recognized through her service as a council member for the Cystic Fibrosis Foundations in both the United States and Brazil. Additionally, she has served on the executive board of directors for the Cystic Fibrosis Foundation’s North Carolina Chapter, leading initiatives in outreach, awareness, advocacy, and education.

A significant turning point in Miriam’s personal life occurred in 2021 when she began a new treatment targeting the root cause of Cystic Fibrosis at the cellular level. This development significantly enhanced her quality of life and invigorated her dedication to helping find groundbreaking treatments for other individuals with rare diseases. Driven by her personal experiences and professional expertise, she is happy to contribute her skills to Team Telomere’s mission.

Based in North Carolina with her husband, Miriam is a global citizen at heart. She cherishes opportunities to travel and connect with diverse cultures and backgrounds, which enriches both her worldview and her work in biomedical science.

Abbey Hauser

Abbey Hauser

Communications Coordinator

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Abbey Hauser is a young adult rare disease advocate and patient. Abbey started advocating for rare disease, disability, and chronic illness after starting their blog, Owning My Story, in early 2017 once their previously mild condition progressed to impact more of their daily life. Since then she has found a passion for policy advocacy and joined the EveryLife Foundation for Rare Diseases Board of Directors and is an active member of their Young Adult Rare Representatives (YARR) advocacy program. Abbey is excited about Team Telomere’s passion for community and drive to move the science forward for Telomere Biology Disorders. They are also passionate about helping patients and families find strength and confidence in their stories to become powerful advocates.

Abbey has met with lawmakers on Capitol Hill multiple times, served as a consumer review for the Congressionally Directed Medical Research Programs (CDMRP) and has spoken at various events and webinars for rare disease and adaptive sports advocacy. In their down time, Abbey is an avid reader, an outdoor enthusiast and a collector of quotes.

Our Board

Allison Kiene

Allison Kiene

President

Nicole Bjerke

Nicole Bjerke

Vice President

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Nicole lives in southern Minnesota has been a part of the DC community since the very beginning in 2008. She has been married to Logan for 24 years. She has two children, Rilee and Jordyn, and came to this community because of her daughter Rilee. Rilee was affected by DC and had a successful BMT in 2003 at the age of 3. In 2015 she started having lung, liver, and GI issues. Ultimately, GI bleeding took her life in March of 2017 at the age of 17. Rilee’s creativity has inspired Nicole to put her whole heart into the community. She comes with much knowledge and personal experience and brings her heart and passion with her. She has already been giving her time behind the scenes for the last few years and looks forward to serving our rare community in a leadership role.
Bruce Friedman

Bruce Friedman

Treasurer

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Bruce has served on Team Telomere’s board or as a volunteer since 2010.  He and his family first learned of telomere disorders and more specifically, Dyskeratosis Congenita when their oldest son, Josh was diagnosed in 2004. Josh was eight years old when diagnosed and despite having limited treatment options and many physical and cognitive challenges, he thrived throughout his life until succumbing to this disease in 2011.  This experience has moved Bruce both professionally and personally as he has worked in the nonprofit sector for the past decade and  continues to partner with other rare disease organizations.  Bruce is the SVP of Finance and Controllership at United Way Worldwide.  He has held a number of finance leadership roles in higher education as well as for-profit utility and consumer service industries.  Bruce has been a part of the Philadelphia area finance community for the past 30+ years.  He lives in West Chester, PA with his wife, Pattie and their two young-adult children, Noah and Katie as well as their 70-pound Pit-Lab, Murry.  He enjoys his family, Philly sports and biking many miles each year and has been an active member of the University of Pennsylvania’s Orphan Disease Center Million Dollar Bike Ride, starting Team Josh & the DCO Riders (now Team Telomere) in 2014.

Bruce holds an Bachelors and MBA from Drexel University as well as a Masters in Organizational Dynamics from the University of Pennsylvania.  He has been a licensed CPA since 1992 and is a certified executive coach and organizational consultant.

Kendall Davis

Kendall Davis

Secretary

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Kendall is a driven health advocacy professional with strong community outreach, patient association, health care provider, rare disease, and chronic illness expertise. She holds a Master’s Degree in Public Health from Michigan State University as well as a Bachelor of Science in Psychology from Loyola University, Chicago. Kendall Davis currently serves as the Early Development- Patient Advocacy Lead at Spark Therapeutics, a rare disease gene therapy company. Kendall has previously held the role of Patient Advocacy Strategy Lead at PRA Health Science where she ensures that the patient is a part of the clinical research lifecycle and Director of Strategic Alliances at Global Genes, a leading rare disease patient advocacy organization. Kendall has also held key roles in patient advocacy and education in the nonprofit and biotech industries. Kendall’s passion is to improve the health outcomes of individuals living with rare diseases while creating strategic advocacy and awareness campaigns in the rare diseases space. Kendall specializes in cultivating partnerships with patient advocacy organizations, identifying and partnering with Key Opinion and Community Leaders, identifying key business needs, developing customized programs to achieve key outcomes, and balancing a global focus with national, regional and local patient-centric partnerships. Kendall works with leaders in the rare disease nonprofit community & biotechnology space to advance progress in the rare disease community.

Heidi Carson

Heidi Carson

Board Director & Data Collection Manager

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Heidi Carson lives and works in Silicon Valley. She is connected to Team Telomere through her husband, Chad, who passed away in 2019 due to complications from a bone marrow transplant following a liver transplant that tried to address the health issues caused by his very short telomeres. Heidi is working on several projects with Team Telomere with the dream goal of helping this community develop better treatments and ultimately one day a cure for telomere biology disorders. As Team Telomere’s Data Collection Program Manager, she is currently building a platform for patients and researchers to collaborate and share data. Heidi is also happy to share her experiences navigating telomere disease as a primary caregiver – please feel free to reach out. Heidi lives with her two teenage children and their rescue dog and enjoys traveling, yoga, and learning languages.
Jeni Colter

Jeni Colter

Board Director

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Jeni Colter was previously a member of Team Telomere’s Outreach committee before joining the board in September 2019. In 2016, Her daughter, Megan, was diagnosed with DC through genetic testing revealing a novel variant on the TERT gene as well as very short telomeres. Jeni was later found to have the same variant and very short telomeres. Their family attended Camp Sunshine in 2016 and fell in love with the DC Outreach/Team Telomere community.

Her professional background is in early childhood education. She taught preschool for 12 years before leaving her position in 2019. She happily lives in Laramie, Wyoming enjoying the beauty of the mountains. She is happily married to Dr. Rob Colter, Ph.D. a faculty member in the Department of Philosophy and Religious Studies at the University of Wyoming, In addition to Megan, she has a son , Jackson who is completing his master’s degree in Philosophy at Colorado State University. In addition to their human children, they have two spoiled rotten dogs, Athena and Ajax. One of her goals while serving on the board is to broaden the resources available to the young adult population living with DC.

Kim Cohee

Kim Cohee

Board Director

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Kim is a rare disease patient advocate and genetic counselor with 25 years of experience in clinical, research and pharmaceutical settings. She lives in Santa Rosa, CA with her husband (Greg), teenage son (Jace) and cat (Dooby). Kim has a Bachelor’s Degree in Genetics and a Master’s Degree in Health & Medical Sciences from the University of California, Davis & Berkeley, respectively. She worked as a Genetic Counselor at Kaiser, a Clinical Trial Coordinator at the University of California, San Francisco (UCSF) and a Clinical Research Associate at BioMarin Pharmaceutical Inc. Kim had the opportunity to meet Team Telomere through her work as the Director of Patient Advocacy at Ultragenyx Pharmaceutical Inc where she was employed until 2021. Kim is currently taking time off work to care for family members. She enjoys hiking, traveling, and tasting beer & wine in Sonoma County.
Lisa Benincosa

Lisa Benincosa

Board Director

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Lisa Benincosa received her PhD in Pharmaceutics from University at Buffalo and Bachelor’s degree in Pharmacy from West Virginia University. She has spent her career in Pharma R&D in senior executive leadership roles such as SVP Head Translational Medicine, VP Clinical Pharmacology and VP DMPK and Bioanalytics. She has experience in research and development across therapeutic areas including rare diseases. Lisa serves on academic leadership councils and is a
Board Member of the American Society of Clinical Pharmacology & Therapeutics. She has received leadership and distinguished alumni awards throughout her career.
She resides in Saint Augustine Florida.

Parvathy Krishnan

Parvathy Krishnan

Board Director

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Parvathy Krishnan is CEO and Founder at the Krishnan Family Foundation, a 501(c)(3) healthcare advocacy organization. She began her efforts in advocacy and awareness after both her children were with multiple ultra and nano rare genetic conditions. Parvathy is an accomplished speaker and has spoken at various conferences, workshops and events engaging various stakeholders across the Rare Disease Landscape. Parvathy is passionate about empowering others through advocacy, patient-family engagement, and collaborating with various stakeholders to bridge the gap.

Parvathy serves on advisory councils as a leader across various institutions and organizations around the world. She is a Subject Matter Expert on patient and family centered care, surgical oncology family experiences, palliative/complex care and nano rare clinical trial patient experiences. Parvathy also serves as a Community Congress member providing insights on urgent policy initiatives.

Parvathy has a Masters in Clinical Nutrition with professional experience in Clinical Care as a Nutrition Support Dietitian. Parvathy has a unique blend of experiences that drives her passion and commitment towards Rare Disease Advocacy. Her educational and work experiences from clinical care combined with her personal lived experiences as a Rare Caregiver continues to steward her work. She lives in North Carolina.

Kevin Kelly

Kevin Kelly

Board Director

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Kevin lives in Philadelphia with his wife of 32 years Cathy and seven year old Beagles Frankie & Henry. Kevin was first exposed to Team Telomere through his friends Pattie & Bruce Friedman who lost their Son Josh to Dyskeratosis Congenita. Professionally Kevin has worked in business development within the Life Sciences space for almost 30 years. Rare disease is not foreign to Kevin as he has come to know many rare disease states over the course of his career and even had his adult daughter diagnosed with a rare disease her freshman year of college. Professionally, Kevin is passionate about helping to bring life changing/saving medicines to patients around the world and brings that passion to Team Telomere. In addition to being a dog lover, he is an avid cyclist and home chef.

Yael Weiss, MD, PhD

Yael Weiss, MD, PhD

Board Director

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Yael Weiss is currently CEO of Mahzi Therapeutics, a company focused on the development of therapies for ultra-rare genetic neurodevelopmental disorders. Mahzi works closely with patient foundations to support their journey towards drug development and bring programs into Mahzi once pre-clinical proof of concept is established.

Yael completed her MD at Hadassah Medical School at the Hebrew University in Jerusalem and her PhD at the Weizmann Institute of Science in Rehovot, Israel. She has over 20 years of industry experience in medical/clinical and business development roles at Genzyme, Merck and Ultragenyx. Yael is a member of the NIH driven Bespoke Gene Therapy (BCTG) consortium, ASGCT translational committee, N=1 collaborative and is a 2022 Termeer Fellow. Board member/advisor to ADNP and FOXG1 foundations.

Our Consultants

Maggie Rowe

Maggie Rowe

Education Liaison

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Maggie Rowe, LICSW, CCLS, is a Clinical Social Worker and Child Life Specialist in Spokane, WA. She is currently working in private mental health practice with children and adolescents with unique physical and mental health concerns. She previously served as the program coordinator and hospital-school liaison for the Andrew Rypien School Program, an education program within Sacred Heart Children’s Hospital. In this role Maggie learned the ins and outs of special education, and how to help families solve the problem of chronic absenteeism due to chronic medical issues. Throughout her career, Maggie has worked as a Recreation Therapist, Child Life Specialist, and Social Worker for children with various chronic illnesses, disabilities, or injuries since 2003, and more specifically children with hematology/oncology diagnoses and bone marrow transplants since 2010. As an Education Liaison, Maggie looks forward to helping you find the right type of education support for your child in your home community.

Board of Medical Advisors

 Dr. Suneet Agarwal MD, PhD

Dr. Suneet Agarwal MD, PhD

Chair of Medical Advisory Board & Board Director

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Dr. Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He carried out pediatric hematology/oncology clinical training at the Dana-Farber Cancer Institute and Boston Children’s Hospital, where he also did postdoctoral research in stem cell biology. Dr. Agarwal is currently Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal’s research is focused on the mechanisms and therapy of genetic blood diseases. With colleagues, he initiated the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) in 2013. He leads a multi-center bone marrow transplant clinical trial for patients with DC and telomere diseases. His lab is working on new treatments for telomere diseases. He has served as a Medical Advisor for Dyskeratosis Congenita Outreach since 2011.
Dr. Sharon A. Savage

Dr. Sharon A. Savage

MD

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Dr. Sharon A. Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Her comprehensive approach combines genomics with clinical genetics and molecular biology to improve understanding of cancer etiology and the lives of patients with complex cancer-prone disorders. Dr. Savage leads the NCI’s clinical and genetic study of Li-Fraumeni syndrome (LFS), a highly penetrant cancer susceptibility syndrome often caused by germline mutations in TP53, that is evaluating pediatric and adult cancer-screening regimens and studying the underlying molecular biology of LFS. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. Dyskeratosis Congenita (DC), cancer-prone inherited bone marrow failure syndrome, is caused by germline mutations in telomere biology genes. To date, Dr. Savage has discovered four genetic causes of DC. This work has formed the basis for numerous basic science studies of the function of telomere biology genes. Her clinical studies of DC have led to improvements in the diagnosis of DC and seek to advance understanding of the clinical complications of DC and the related telomere biology disorders.

Dr. Kasiani Myers

Dr. Kasiani Myers

MD

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Dr. Kasiani Myers is an Associate Professor of Pediatrics at the University of Cincinnati and Cincinnati Children’s Hospital Medical Center and Director of the Hematopoietic Stem Cell Transplant Late effects and Survivorship Program. Dr. Myers focuses her clinical efforts with patients with bone marrow failure disorders including telomere biology disorders and her research in translational studies in leukemogenesis, bone marrow failure, and acute complications and late effects following hematopoietic stem cell transplant (HSCT). She is the Principal Investigator for the industry sponsored clinical trial for evaluation of telomere elongation with EXG34217 in patients with Telomere Biology Disorders with bone marrow failure (NCT04211714).

Also as part of these research efforts Dr. Myers is a member of the Clinical Care Consortium for Telomere Associated Ailments, she co-directs the North American SDS registry and the Cincinnati Children’s Hematopoietic stem cell and Bone Marrow Failure Repositories, as well as site Principal investigator for numerous international collaborative marrow failure studies including Dr. Suneet Agarwal’s multi-center study investigating radiation- and alkylator-free conditioning for patients with Dyskeratosis Congenita.

 Dr. Timothy Olson MD, PhD

Dr. Timothy Olson MD, PhD

Board Director

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Dr. Olson’s career is dedicated to clinical care for patients with acquired and inherited bone marrow failure syndromes, and conducting basic, translational, and clinical research investigating disease mechanisms and methods to improve treatment for these patients. He is an Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP. He is a member of the Clinical Care Consortium for Telomere Associated Ailments and an Advisory Board member for Dyskeratosis Congenita Outreach, Inc. He is the primary Principal Investigator for two prospective institutionally supported clinical trials assessing novel approaches to conditioning and graft engineering for pediatric patients undergoing hematopoietic stem cell transplantation (HSCT) for BMF (NCT02928991 and NCT03047746). He is also site Principal Investigator at CHOP for several multi-institutional clinical HSCT trials, including Dr. Suneet Agarwal’s multi-center study investigating radiation- and alkylator-free conditioning for patients with Dyskeratosis Congenita.

His laboratory’s basic research is focused on using murine HSCT models to investigate molecular mechanisms governing hematopoietic stem cell engraftment within stem cell niches in the context of BMF, with the long-term goal of devising novel, less-toxic methods to ensure durable engraftment after HSCT. His translational research focus is investigating genetic and molecular pathogenesis, hematopoietic clonal evolution, and prognostic factors influencing the development of myelodysplasia and response to therapy in patients with acquired and inherited BMF. To support these efforts, he is Principal Investigator for the CHOP IRB-approved, BMF Patient Registry and Sample Repository, which contains a large collection of samples from over 600 pediatric and adult patients with BMF.

Dr. Ryan Himes

Dr. Ryan Himes

MD

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Dr. Himes is a pediatric hepatologist (liver disease specialist) at Ochsner Health in New Orleans and Clinical Assistant Professor at Louisiana State University Health Science Center-Shreveport. Focused on the care of individuals with rare, often genetically determined liver conditions, this led to a fortuitous clinical and research collaboration with Dr. Alison Bertuch while the two were colleagues at Baylor College of Medicine. He’s particularly interested in the gastrointestinal and liver manifestations of telomere biology disorders and the role liver transplantation may play for select patients.

He leads the Division of Pediatric GI, Hepatology & Nutrition and is Medical Director of the Pediatric Liver Transplant Program at Ochsner.

Dr. Mrinal Patnaik

Dr. Mrinal Patnaik

MBBS

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Dr. Mrinal Patnaik is an Associate Professor of Internal Medicine at the Mayo Clinic, Division of Hematology, in Rochester, Minnesota. He is affiliated with the Myeloid Malignancies group and is the director of the precision genomics practice. He is the co-director of the Epigenetics Developmental Laboratory and an executive member for the Beyond DNA committee, a major directive of the Center for Individualized Medicine. He obtained his medical degree from the Grant Medical College in Mumbai and then did his Internal Medicine residency at the University of Minnesota. He then completed a fellowship in Hematology, Oncology and BMT at the Mayo Clinic and has been a faculty member ever since. He has a strong interest in bone marrow failure syndromes and in 2017, with the help of the Division of Hematology and the Center for Individualized Medicine, he launched the program for excellence for Telomere Biology Disorders. This is a multidisciplinary clinical and laboratory effort being carried out to assess and provide comprehensive care to patients with Telomere Biology Disorders, including Dyskeratosis Congenita. His research interests include assessing for clonal hematopoiesis in Telomere Biology Disorders, epigenetic regulation of telomere length and the development of clinical trials for patients with Telomere Biology Disorders.
Dr. Jakub Tolar

Dr. Jakub Tolar

MD, PHD

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Dr. Jakub Tolar is Dean of the Medical School and a Distinguished McKnight University Professor of Pediatrics at the University of Minnesota. A blood and marrow transplant physician whose life work centers on helping children with devastating genetic disorders, Dr. Tolar is a clinician-researcher whose efforts span both the clinic and the laboratory. He is known for his ground-breaking use of bone marrow transplant to treat dyskeratosis congenita and severe forms of epidermolysis bullosa. His laboratory is currently working with state-of-the-art gene-editing technologies to repair genetic errors in a patient’s own cells and use the corrected cells for transplant and other therapies. He also serves as the Vice President for Clinical Affairs at the University of Minnesota, Board Chair for University of Minnesota Physicians, and co-leader of M Health Fairview, which is the Joint Clinical Enterprise between the University of Minnesota Medical School, University of Minnesota Physicians, and Fairview Health Services.
Dr. Rodrigo T. Calado

Dr. Rodrigo T. Calado

MD, PhD

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Dr. Rodrigo T. Calado received his MD in 1997 and his PhD in 2003 both from the University of Sao Paulo, Brazil. He received his postdoctoral training in hematology at the National Heart, Lung, and Blood Institute, National Institutes of Heath, Bethesda, Maryland, where he also worked as Staff Scientist. His main research focus is in hematopoietic stem cell failure, including inherited and acquired aplastic anemia. Dr. Calado has helped to characterize the molecular genetics of telomeropathies and acquired aplastic anemia and developed novel therapies for these disorders.
He is currently Scientific Director of the Ribeirao Preto Blood Bank, and Head of the Hematology Laboratory, University of Sao Paulo, Brazil.
Dr. Alison Bertuch

Dr. Alison Bertuch

MD, PhD

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Dr. Bertuch received her BS from Massachusetts Institute of Technology and her MD and PhD from University of Rochester. She then completed her residency in Pediatrics and fellowship in Pediatric Hematology/Oncology at Baylor College of Medicine in Houston, Texas, where she has remained and is currently Professor of Pediatrics, in the Division of Hematology/Oncology, and Molecular & Human Genetics. She is the Director of the Bone Marrow Failure Program at Texas Children’s Hospital, where she cares for children with a wide range of conditions, including the Telomere Biology Disorders (TBDs). Dr. Bertuch has a long-standing interest in the TBDs and her research contributions have spanned from the basic science of telomeres to translational and clinical studies. She is particularly interested in the complexity of the molecular genetics underlying these disorders. Her research has been funded by the National Institutes of Health, the Department of Defense Bone Marrow Failure Research Program and the American Society of Hematology. She has received several honors including election to the American Society for Clinical Investigation and the American Pediatric Society.
Dr. F. Brad Johnson

Dr. F. Brad Johnson

MD, PhD

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Brad Johnson is a professor in the Department of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. He earned his MD and a PhD in biochemistry from Stanford University, and completed a clinical residency at Brigham and Women’s Hospital and postdoctoral research at MIT. Dr. Johnson’s laboratory investigates the biology of telomeres, how they are maintained, and how enhancing these natural mechanisms may help ameliorate diseases caused by dysfunctional telomeres. He also serves as Assistant Director of the Clinical Immunology Laboratory at the Hospital of the University of Pennsylvania, where his expertise is in transplant-related testing, and as Associate Director of the Penn Institute on Aging. He is an editorial board member at Mechanisms of Ageing and Development, at Frontiers of Genetics (Aging), and at Aging Cell, and served as chair of the NIH Cellular Mechanisms of Aging and Development Study Section. He begins he service on the Dyskeratosis Congenita Outreach Medical Advisory Board in 2018.
Ann Carr

Ann Carr

MS, CSC

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Ms. Carr completed her M.S. in Human Genetics/Genetic Counseling at Rutgers University. She is Board Certified by the American College of Medical Genetics and the American Board of Genetic Counseling. Ms. Carr has worked as a genetic counselor contracted to the Clinical Genetics Branch of the National Cancer Institute (NCI) for 20 years. During that time, she has provided genetic counseling services to families as part of the NCI’s Inherited Bone Marrow Failure Syndrome and multiple other cancer studies. Ms. Carr’s previous genetic counseling experience includes pediatric and prenatal positions; she has also worked in cytogenetics laboratories. She enjoys integrating her various genetic counseling and laboratory experiences when speaking with individuals and families with Dyskeratosis Congenita. Ms. Carr is a member of the National Society of Genetic Counselors and their Cancer and Pediatric Cancer Special Interest Groups.
Dr. Souheil El-Chemaly

Dr. Souheil El-Chemaly

MD

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Dr. El-Chemaly received his medical degree from Saint Joseph University in Beirut- Lebanon. He then completed a residency in internal medicine at St. Luke’s-Roosevelt Hospital, a teaching affiliate of Columbia University College of Physicians and Surgeons and a pulmonary fellowship at Jackson Memorial Hospital/ University of Miami. He then carried out a research fellowship at the National Heart, Lung, and Blood Institute in the laboratory of Dr. Joel Moss.

Dr. El-Chemaly is the Clinical Director of The Center for LAM Research and Clinical Care at Brigham and Women’s Hospital, an Associate Professor Harvard Medical School, Boston, MA, and an elected member of the American Society of Clinical Investigation.

Dr. El-Chemaly’s laboratory investigates the roles of pulmonary lymphatic vessels and the regulation of lymphangiogenic growth factors in various lung disorders. Dr. El-Chemaly’s clinical research interest is in investigating the role of telomere and telomere maintenance in pre- and post- lung transplant outcomes.

Global Ambassadors

Mayra Garcia

Mayra Garcia

Hispanic/Latino Ambassador (US)

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Hola, soy Mayra Garcia de Miami, FL. Me siento honrado de formar parte de una misión muy cercana a nuestra familia. El primer día que nuestro hijo fue diagnosticado con DKC1, buscamos sin fin una pareja perfecta para salvar su vida. Me uní a Bethematch e Icla da Silva para la búsqueda. Llevé a cabo muchas campañas de médula ósea en las universidades, y prácticamente donde podría. No tenía ni idea de lo raro que era este trastorno y la dificultad de encontrar un donante dentro de la comunidad hispana. A lo largo del camino, aprendí sobre DC mientras cuidaba de mi hijo. También completé mi BSN en enfermería y resultó ser una ventaja durante los problemas de salud de mis hijos. Visité muchas oficinas pediátricas en miami y sólo escogí lo mejor para Julian.

Desafortunadamente, después de muchos años Julian nunca encontró un partido perfecto y recientemente falleció. Mi meta aquí es poder ayudar a muchas familias.
Espero con interés aumentar la conciencia, proporcionar cualquier tipo de confianza, y les dejo saber que esta comunidad es familia. Cuando duele, a todos nos duele. Julian tenía un corazón muy amable y ayudar a los demás es todo lo que quería hacer también. Esta es mi manera de honrar a mi hijo, a través de todos ustedes.

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Hello, I’m Mayra Garcia from Miami, Fl. I’m honored to be part of a mission very close to our family. The first day our son was diagnosed with DKC1, we searched endlessly for a perfect match to save his life. I joined Bethematch and Icla da Silva for the search. I held many bone marrow drives at colleges, and practically where-ever I could. I had no idea exactly how rare this disorder was and the difficulty of finding a match within the hispanic community. Along the way, I learned about DC while caring for my son. I also completed my BSN in nursing and it proved to be a plus during my son’s health issues. I visited many pediatric offices in Miami and only chose the best for him.

Unfortunately, after many years Julian never found a perfect match and recently passed away. My goal here is to be able to help many families struggling with this life long illness. I look forward to increasing awareness, providing any sort of confidence, and letting you know this community is family. When you hurt, we all hurt. Julian had a very kind heart and helping others is all he wanted to do too. This is my way of honoring my son, through you all.

Megan Stephens

Megan Stephens

Pacific Global Ambassador

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Hello. My name is Megan Stephens and I am excited join Team Telomere as the Pacific Global Ambassador. I live in beautiful Nelson, New Zealand with my husband and three children Ruby (12), Lachlan (10) and Gabrielle (8), and I am here to help support those living with living with Dyskeratosis Congenita and other telomere biology disorders in this part of the world. I am available to chat when you need to, and to connect you with the best international resources available. In my day job am a Business Services Marketing/Administrator for a global company with over 22,000 employees, so I am familiar with collaborating in an international capacity.
Gabrielle (Gabby), was diagnosed with Dyskeratosis Congenita in January 2015. Gabby was born with IUGR and was always a sickly toddler and we were constantly at the doctors for something, although we never imagined that she had anything seriously wrong. On 19 November 2014 we took four-year-old Gabby to the doctor as she was bruising more and more easily, and her skin tone was yellow. After being tested initially for Leukaemia she was diagnosed at with Severe Aplastic Anaemia and we were told she would need a bone marrow transplant soon. The further diagnosis of Dyskeratosis Congenita followed six weeks after. Gabby has the TINF2 gene mutation and is considered to have a severe form of the disease.
Gabby had her bone marrow transplant just a few weeks after her fifth birthday, in July 2015 at Starship Children’s Hospital in Auckland, New Zealand. Her brother, Lachlan, was her bone marrow donor – he was just seven-years-old at the time.

Despite her many health and physical challenges Gabby is a very active girl who doesn’t let anything stop her from what she wants to do. She goes to school full time, loves going to Brownies (Girl Guides) and gym. She is extremely determined and has a real zest for life. She is a kid with spunk! For the most part we think we live a ‘normal’ life, or maybe we have forgotten what the real ‘normal’ is like.

I have received amazing support from DCO, even though we are on the other side of the world! I am extremely passionate about wanting to provide peer support to others in the Pacific region. So please don’t be shy and reach out to me at any time.

Rachel Little

Rachel Little

Pacific Global Ambassador

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Hello, I’m Rachel Little from Queensland, Australia.

I have been a photographer and an early childhood educator, but my most passionate role is being a wife and mother of two boys. Cooper is our angel, watching over from above, and Grayson (1yo) is our warrior on earth, diagnosed with Hoyerall-Hreidarsson Syndrome.

Being so rare, I dove head first into study to understand it all as best as I could, considering all of our doctors had barely (some never) heard about DC or HHS before. I felt I had to understand it all, incase they didn’t – for my sons sake!

I was pleasantly surprised, and relieved, to find myself welcomed into the village of Team Telomere!

Grayson has two TERT gene mutations, one each passed on from myself and my husband, Leighton. We still can’t fathom the odds of us both having the same gene mutation, but I guess it means we were meant to be together! We are still unsure of the implications this will have on ourselves being a carrier, but for now our priority is getting Grayson through his Bone Marrow Transplant.

I am so excited to join Team Telomere to help spread awareness, fundraise for research and connect with families effected by TBD/DC.

I am passionate about getting the global awareness needed to fund more research into telomere studies and find our warriors a cure!

Jacquie Roskell

Jacquie Roskell

UK Global Ambassador

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Jacquie Roskell is from Lancashire in the north of England. She lives with her husband Shaun, son Woody (8), daughter Phoebe (5) & chocolate Labrador Denzel (3). Phoebe was diagnosed with DC in July 2017 after becoming unwell with bone marrow failure in May of the same year. Phoebe had a successful bone marrow transplant at The Royal Manchester Children’s Hospital in December and her brother Woody was her donor.

Jacquie contacted Team Telomere soon after Phoebe’s diagnosis after a google and Facebook search. Jacquie says ‘it quickly became apparent that the specialist knowledge of this rare disease wasn’t available to us and after being given the news we were left feeling isolated and alone’. Jacquie’s mission is to ensure no one in the U.K. ever has to feel like she and her husband did after Phoebe’s diagnosis.

Dr. Rodrigo T. Calado

Dr. Rodrigo T. Calado

South America Medical Advisor

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O Dr. Calado é Professor Associado de Medicina da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (USP) e Pesquisador Principal do Centro de Terapia Celular da USP. Trabalhou anteriormente na Divisão de Hematologia do Instituto Nacional do Coração, Pulmão e Sangue dos Institutos Nacionais de Saúde dos Estados Unidos da América. É especializado no diagnóstico e tratamento de falências da medula óssea, como a anemia aplástica, doenças dos telômeros e no estudo da biologia das células-tronco hematopoéticas.

El Dr. Calado es Profesor Asociado de Medicina de la Facultad de Medicina de Ribeirão Preto de la Universidad de São Paulo (USP) e Investigador Principal del Centro de Terapia Celular de la USP. Trabajó anteriormente en la División de Hematología del Instituto Nacional del Corazón, Pulmón y Sangre de los Institutos Nacionales de Salud de los Estados Unidos de América. Es especialista en el diagnóstico y tratamiento de falencias de la médula ósea, como la anemia aplástica, enfermedades de los telómeros y en el estudio de la biología de las células madre hematopoyéticas.

Dr. Marena Niewisch

Dr. Marena Niewisch

German Medical Advisor

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Frau Dr. med. Marena Niewisch stammt aus Hamburg. Sie studierte Humanmedizin in Tübingen und Bordeaux, und absolvierte zusätzliche Auslandsaufenthalte in Australien, Peru und Schweden.  Ihre Ausbildung zur Kinderärztin erhielt sie an der Universitätskinderklinik in Freiburg, wobei sie sich bereits in dieser Zeit insbesondere für angeborene Knochenmarkserkrankungen zu interessieren begann. 

Ihre weitere Ausbildung zur Kinderhämatoonkologin führte sie an die Medizinischen Hochschule Hannover. Im Jahr 2019 erhielt sie ein Stipendium der Mildred-Scheel-Stiftung zur Durchführung eines zweijährigen Forschungsprojekts zu Dyskeratosis congenita in der Arbeitsgruppe von Dr. Sharon Savage am National Cancer Institute, Bethesda, Maryland, USA. Anschließend kehrte sie 2021 nach Hannover zurück. Seither beschäftigt sie sich im Rahmen von Forschungsprojekten insbesondere mit der Frage nach den klinischen Auswirkungen von Telomererkrankungen, wie der Dyskeratosis congenita, für Betroffene und ihre Familien.
Amy Pilon

Amy Pilon

Canada Global Ambassador

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Amy Pilon lives in Saskatchewan, Canada. She was diagnosed with Aplastic Anemia and underwent heart surgery in 2004 at the age of 7. Medical issues persisted and Amy spent many years doctoring off and on between Saskatchewan and Alberta before she was finally diagnosed with DC in 2012. There were very few resources available at the time as the disease was still quite new to medical professionals. DC is something that has effected generations of Amy’s family without their knowledge prior to her diagnosis, mainly in the form of Pulmonary Fibrosis. This has led Amy and her family to advocate strongly for organ donor awareness within Canada and worldwide through the creation of the Karen Pilon Organ Donor Awareness Foundation. In her spare time, Amy is a competitive 5-pin bowler, enjoys live music and is currently working towards her BBA, Marketing at the University of Regina. Amy would like to help anyone effected by a DC diagnosis as she understands the feelings of isolation that it can bring, especially in children. Please feel free to contact Amy anytime.

Dr. Rosario Perona

Dr. Rosario Perona

Spain Global Ambassador

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Rosario Perona Abellón es profesor de Investigación del Consejo Superior de Investigaciones Cientificas. Actualmente es jefe de grupo en el Instituto de Investigaciones Biomédicas (CSIC/UAM) y dirige el grupo de Enfermedades con defectos en telómeros U757 en el CIBER de enfermedades raras (CIBERER). Su grupo esta especializado en el estudio genético de pacientes con disqueratosis congenita y fibrosis pulmonar idiopática y es el grupo de referencia en España para el estudio de ambas enfermedades. Actualmente tambien trabaja en el desarrollo de una terapia de reactivación de telomerasa basada en la actividad del péptido GSE4.

Rosario Perona Abellón é Professor do Investigação do Conselho Superior de Investigações Científicas. Atualmente é líder do grupo no Instituto de Investigações Biomédicas (CSIC / UAM) e dirige o grupo de doenças com defeitos nos telômeros U757 no CIBER de doenças raras (CIBERER). Seu grupo é especializado no estudo genético de pacientes com disqueratose congênita e fibrose pulmonar idiopática e é o grupo de referência para o estudo de ambas as doenças. Atualmente, ele também está trabalhando no desenvolvimento de uma terapia de reativação da telomerase para ambas as doenças com base na atividade de um peptídeo GSE4.

Dr. Carlo Dufour

Dr. Carlo Dufour

Italy Medical Advisor

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Carlo Dufour lavora presso l’Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) G. Gaslini di Genova, il più grande ospedale pediatrico multi specialistico del paese, dove è dirige il Polo emato – oncologico – trapianto di cellule staminali ematopoietiche, e l’Unità di Ematologia che è sede del Registro Nazionale delle Neutropenie, del Registro Nazionale Alps e delle malattie correlate, del database nazionale dell’Anemia di Fanconi e del neofondato Registro Italiano Telomeropatie. Ha fondato, nell ‘Associazione Italiana di Ematologia Oncologica Pediatrica (AIEOP), il Gruppo di Studio sulle Sindromi da Insufficienza Midollare. Membro del network internazionale TeamTelomere, attivo sulle malattie da disfunzione del telomero. E’ autore o co-autore di più di 200 pubblicazioni internazionali e di libri di testo e capitoli di libri di ematologia. E’ revisore delle più importanti riviste scientifiche internazionali far cui : New England Journal of Medicine, Journal of Clinical Oncology, Leukemia, Clinical Immunology e Blood. Ha operato come valutatore esperto di progetti e contributi scientifici per vari istituzioni internazionali fra cui il Registro Francesce per le malattie rare, Fanconi Anemia Research Fund INC (US), Leukemia and Lymphoma Research Foundation (UK), American Society of Hematology Education Program. É stato Chairman del Working Party of the Severe Aplastic Anemia (WPSAA) e membro del Bord dell’ European Society for Blood and Marrow Transplantation (EBMT). Al momento ricopre il ruolo di coordinatore dello Scientific Working Group (SWG) on Granulocyte and Constitutional Marrow Failure Disorders per la European Hematology Association (EHA). All’interno dell’EHA fa parte della’ SWG Unti, dell’Eucational Committee e del Comitato per le Linee Guida. Ha partecipato alla commissione per l’attribuzione delle cattedre di medicina molecolare della University of London.

Da Dicembre 2019 è membro del Scientific Committee of the American Society of Hematology.

Nel 2015 ha ricevuto dal Fanconi Anemia Research Fund. INC (FARF) il Discovery Award per la partecipazione all’identificazione del gene FANCT.

Nel dicembre 2019 gli è stato riconosciuto il premio per il contributo scientifico nel campo dell’Anemia di Fanconi dalla spagnola “Fundacion en la Anemia de Fanconi”.

A inizio 2020 è stato premiato dalla European Society of Blood and Marrow Transplantation (EBMT) con il Premio Van Bekkum, riconoscimento riservato al miglior contributo scientifico dell’anno, per lo studio prospettico randomizzato RACE (Confronto fra Immunosoppressione classica ± Eltombopag) nei pazienti con anemia aplastica grave.

 Loetitia Soler

Loetitia Soler

France Global Ambassador

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Bonjour, je m’appelle Loetitia, j’ai 46 ans, je suis conseillère en immobilier, je vis à POMPIGNAC à coté de BORDEAUX en FRANCE avec mon mari Christophe (50 ans) et mes deux enfants Thibault (20 ans) et Hugo (15 ans)

Hugo est né à 6 mois et 10 jours, il a fait un AVC à la naissance, il a une hémiplégie, durant des années il a eu beaucoup de problèmes de santé sans que l’on sache de quoi il souffrait exactement, les hospitalisations se sont rapprochées de plus en plus, puis l’année de ses 13 ans il a passé pratiquement à l’hôpital, c’est là qu’un médecin a décidé pendant son hospitalisation de faire des examens génétiques et le diagnostic est tombé, Hugo était atteint d’une dyskératose congénitale avec une aplasie médullaire et une atteinte du foie, j’ai été diagnostiquée dyskératose congénital avec une petite aplasie médullaire et une fibrose pulmonaire.

Suite au diagnostic, nous avons eu envie de nous rapprocher d’une association, mais malheureusement celle qui existait en France ne fonctionnait plus, nous nous sentons isolés, mais heureusement nous avons trouvé beaucoup de réponses sur le site et les réseaux sociaux de la TEAM TELOMERE, c’est de là qu’est venu mon envie de créer une association française de dyskératose congénitale TELOMERO ASSO qui a pour but de faire connaître la maladie, aider les patients et leurs familles et enfin collecter des fonds pour aider la recherche.

Je suis très heureuse aujourd’hui de pouvoir rejoindre l’équipe TEAM TELOMERE en tant qu’ambassadrice région FRANCE.

Yuki Kameda

Yuki Kameda

Japan Global Ambassador

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私は亀田夕貴です。私は、東京医科歯科大学の検査学科を卒業し、現在病理部で細胞検査士として働いています。 私には3人娘がいますが、次女は生まれる際に問題が生じ、低体重児でしたが、その後は元気に成長してくれていました。2歳頃に全身に痣が出始め、風邪を引いた後に急に貧血症状がみられました。病院を受診すると、范血球減少を指摘され、再生不良性貧血と診断されました。
その後、爪の萎縮や口腔内白斑が見られたので遺伝子検査をしたところ、TINF2の遺伝子変異があり、先天性角化不全症と診断されました。現在は適合ドナーがいないので造血幹細胞移植ができません。今はアンドロゲン投与により治療をしています。それによりやっと血球値の低値維持ができています。それまでは1週間に1度の輸血が必要でした。今後は遺伝子治療の開発により、多くのDC患者に根治の可能性が広がるように希望を持って活動したいです。Team telomereの初めての日本人アンバサダーに就任できることをとても嬉しく思います。
Christina Coffey Ryan

Christina Coffey Ryan

Ireland Global Ambassador

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Christina Coffey Ryan is a full-time mother of three and lives in Ireland with her husband Derek. She enjoys family outings, watching sunsets, and spending time at the beach. Christina began her rare journey in 2021 shortly after her mother and brother passed away. When she noticed her health was declining, she sought out testing. She was diagnosed with Pulmonary Fibrosis as a result of short telomeres and the TERT gene. Having witnessed firsthand the devastation this cruel illness has caused her family, she sought out support from Team Telomere and began researching and educating herself. In Ireland, there is a very limited understanding of Telomere Biology Disorders. By serving as an ambassador for Team Telomere in Ireland, Christina hopes to raise awareness, fundraise for research, and connect with other families affected by Telomere Biology Disorders.

Dr. Alfredo Rodríguez

Dr. Alfredo Rodríguez

Mexico Medical Advisor

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Alfredo Rodríguez es Biólogo, y Doctor en Ciencias por la Universidad Nacional Autónoma de México (UNAM). Realizó un posdoctorado en el Dana Farber Cancer Institute y la Escuela de Medicina de Harvard. Actualmente es investigador asociado del Instituto de Investigaciones Biomédicas de la UNAM y del Instituto Nacional de Pediatría donde lidera el laboratorio de Investigación en “Falla Medular y Carcinogénesis”. Es miembro del Consejo Mexicano de Genética e Investigador Nivel 1 del Sistema Nacional de Investigadores de México. Su laboratorio se enfoca en el diagnóstico de los síndromes hereditarios de falla medular, su seguimiento citogenético y la búsqueda de biomarcadores para detección temprana de cáncer en estos pacientes.