Mission & Vision

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.”

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.

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.

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.

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 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 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.

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.

___________________________________

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.