Mission & Vision

Katie came to the telomere space when her oldest child was diagnosed with bone marrow failure. Three months after ATG treatment failed, 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. The transplant was successful and 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 white paper published and has presented at conferences across the globe. Katie is part of the Chan Zuckerberg Rare as One Initiative, the Rare Foundation Leadership Council, she sat as the first advocate on the Board of Directors for Global Genes. Katie is NORD member leader.

When Katie is not advocating you can find her enjoying nature in the Mountain West, reading and cherishing time with her family.

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

Hannah Raj has been part of the Team Telomere community for over four years. Originally drawn to the TBD community through a personal connection, she found a sense of belonging and support that sparked a desire to give back. Since then, she has been involved in different efforts to support and advance Team Telomere’s mission. 

As a current medical student with research experience in the TBD field, Hannah brings her personal and professional experiences to Team Telomere. Her ultimate goal is to ensure that every individual impacted by TBDs feels informed, supported, and connected.

Her role spans supporting scientific programming, resource development, and organizational coordination. She is especially passionate about creating resources that reflect the needs of the community. She co-edited the second edition of the Telomere Biology Disorders: Diagnosis and Management Guidelines, helped develop one-pager educational resources, and supports ongoing resource distribution. She also helps Team Telomere engage with the medical and scientific community through conference coordination and advocacy efforts.

Hannah is truly honored to serve a community that continually inspires her and fuels her desire to advance TBD care, research, and support every day.

Jena is a dedicated advocate for her daughter, Rori, who was diagnosed with a telomere biology disorder at just 18 months old. Determined to give her child the fullest future possible, she has worked closely with advocates like Team Telomere and Boston Children’s Hospital to support furthering the mission of creating HOPE for the telomere biology community. 

When her daughter was first diagnosed, she felt alone in the journey—until she met Katie Stevens, Director of Team Telomere. That connection ignited her passion for building a strong, supportive community. She is committed to sharing stories, fostering connections, and being a source of guidance for those newly diagnosed, ensuring that no one has to navigate this path alone.

Jena is a mother of two young girls, Amelia and Lorelei (Rori), and a wife to her husband Zachary and enjoys spending her time with them building lasting memories near and far. Her background in psychology and social work has given her the confidence in working with diverse groups of people with compassion and empathy. 

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.

Laura Mainz, PhD, is a Research Associate at the Salk Institute for Biological Studies, where she has been studying telomere biology in the context of cancer since 2020. Her passion for cancer research and patient advocacy is deeply personal. After losing her father to multiple myeloma, she was driven to make a difference for others facing similar battles. This led her to volunteer with the Leukemia & Lymphoma Society (LLS), where she became actively involved in patient support and community outreach.

In 2024, Laura connected with Team Telomere at the “Telomere function and evolution in health and disease” EMBO conference, an experience that reinforced her commitment to bridging the gap between research and advocacy. Recognizing the potential for collaboration, she initiated a partnership between LLS and Team Telomere to enhance support for patients affected by Telomere Biology Disorders (TBD). This collaboration led to her joining Team Telomere, where she now contributes to the management of the Center of Excellence, working to strengthen resources and care for TBD patients.

Laura is dedicated to ensuring that scientific advancements translate into meaningful outcomes for patients in need. Through her research and advocacy efforts, she strives to empower patients, raise awareness, and drive progress in the fight against cancer and TBD.

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.

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.

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.

David lost his father in 2014 to a rare disease, and understands firsthand how powerful and impactful an organization like Team Telomere has on patients and their families.  He is very excited to have the opportunity to support and provide value to such an important organization.

David currently serves as Chief Accounting Officer of Argo Group and is responsible for global accounting operations and all corporate finance transactions.  He previously served as Vice President, North American Controller at AmTrust Financial Services. Prior to that, he held senior finance roles at Moody’s and S&P Global Ratings. David earned his bachelor’s degree in accounting from the City University of New York – Queens College and started his career as an auditor at PwC, New York. 

David lives in Chatham NJ with his wife, Georgie, and two young children, Dylan and Brandon.

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 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 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.

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 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.

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

Dr. Reilly is a clinical-translational researcher at Dana-Farber Cancer Institute and board-certified in Hematology/Oncology. Dr. Reilly received his M.D. degree from the University of Central Florida College of Medicine, and then completed his internal medicine residency at the Hospital of the University of Pennsylvania in Philadelphia. During his postdoctoral fellowship at Dana-Farber, Dr. Reilly discovered that adult patients with myelodysplastic syndromes who have functionally impaired germline TERT variants have inferior survival after a blood stem cell transplant. His clinical expertise in telomere biology disorders led to the establishment of a multidisciplinary program for the care and study of pediatric and adult patients with telomere biology disorders in partnership with Boston Children’s Hospital. His 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 genetic 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.

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.

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.

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!

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.

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. 

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.

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.

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.

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.