Haley is our dedicated Communications Director. She’s a proud native of Minnesota and graduated with her Bachelors in Creative Arts and Graphic Design at Metropolitan State University. In her free time, she likes to freelance design, listen to vinyl records, cook gourmet food, and spend time with her family. Her strong sense of intuition, creativity, and her ability to appreciate the little things in life is what got her interested in design. Her job at Team Telomere as the Communications Director encompasses all the those qualities to create beautiful designs for a community that matters!

Kelly VanDewerker lives in beautiful Hayden Lake, Idaho with her two kids, Parks and Seeley, and her husband, Ryan. Kelly worked in the hospitality industry for the past 16 years and believes each role she has had in life, both professionally, as well as through friendships and community, brought her to this position. She is devoted to advocate and serve Team Telomere’s mission, and committed to constantly learn in order to support families and further the research for those affected by Dyskeratosis Congenita and Telomere Biology disorders. In her spare time she loves to sit on the dock with her favorite people, boat, and watch her kids play for hours in the water. In the winter months you will find her cozied up around a big bonfire with a glass of wine and a s’more. Kelly received her Bachelor’s Degree in Communications from the University of Montana, and always looks forward to a trip back to Missoula for Griz football.

Hannah Raj lives in the greater Chicagoland area. She became involved with Team Telomere after first-handedly learning about Telomere Biology Disorders at the start of 2020. From the very beginning of her journey, Team Telomere’s community and resources made her feel truly supported and connected. Her goal is that every person affected by Telomere Biology Disorders feels the same way. The small contributions she has made to the community thus far have been her greatest joy. Using her personal and professional experiences, she is excited to wholeheartedly and passionately serve, advocate for, and further the research for the Team Telomere community. Hannah is especially driven to supporting and connecting with young adults and children impacted by Telomere Biology Disorders. She is always a call, email, or message away from connecting with the community!

In her free time, she enjoys playing the piano and spending time with her family and friends. Hannah received her Bachelor’s Degree in Neuroscience in 2021 from the University of Illinois at Chicago, and she hopes to continue her education by pursuing a medical degree.

Heather Kagel lives in Dallas Texas and has been engage with Team Telomere since 2018. Heather has a TERC gene mutation and short telomeres. She was diagnosed with Idiopathic Pulmonary Fibrosis in 2013 and Oral Squamous Cell Carcinoma in 2016. Thanks to a wonderful organ donor, she recently received a double lung transplant! Heather brings her personal experience and a passion for more education and raising awareness of these telomere biology disorders and their accompanying diseases.

Heather lives with her husband Rick and their shih-tzu Huckleberry. Her two children, Mitchell (23) and Samantha (22) are living away from home but continue to be amazing care partners and supporters. Heather enjoys travelling (especially to the beach!!), baking, and paper crafts.

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.

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.

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.

Allison Kiene joined the board of Team Telomere in October 2019. Allison is from South Windsor, Connecticut and currently resides in Somers, New York. She has two children, Tim (28) and Caitlin (24). In 2005, Allison’s two brothers, Robert and Richard, were diagnosed with aplastic anemia secondary to Dyskeratosis Congenita and genetic testing revealed that Allison and her mom were both carriers of the disease. Robert and Richard received stem cell transplants under the care of Dr. Joseph Antin and Dana-Farber Cancer Institute. At the time, there were very few resources available to the family and limited understanding of the disease and what would come next. Initially, it appeared that Robert was “cured” only to learn shortly after the transplant that he had Pulmonary Fibrosis. In 2008, at the age of 36, Robert succumbed to the disease. Richard would carry-on earning his doctorate in organic chemistry, marrying his best friend (Ashley) and beginning his career as a college professor. Richard lived life to its fullest fighting each obstacle the disease put before him. In 2015, both Allison’s mom (71) and Richard (36) passed away from Pulmonary Fibrosis.

Allison became a member of the Team Telomere community because she values and understands first-hand the need to support families battling Dyskeratosis Congenita and related diseases. Allison serves as Senior Vice President, Assistant General Counsel and Chief Compliance Officer for Sompo International, a global property and casualty insurance and reinsurance company. Allison is admitted to the Bar in Connecticut, Massachusetts and New York and holds pharmacy licenses in Connecticut and New York.

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.

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.

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. 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. 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.

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. 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.

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.

___________________________________

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.

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!

Seine Ausbildung zum Kinderonkologen erhielt Herr Prof. Kratz an der Albert-Ludwigs-Universität Freiburg, wo er habilitierte und zum Oberarzt ernannt wurde. Es folgten Tätigkeiten in Wellington, Neuseeland und am National Cancer Instistute in Bethesda, Maryland, USA. Im Jahre 2012 erhielt er den Ruf auf die W3-Professur für Pädiatrische Hämatologie und Onkologie an der MHH. Sein Forschungsschwerpunkt liegt im Bereich der Erforschung von Krebsursachen bei Kindern. Insbesondere setzt er sich in seinen klinischen Tätigkeiten und auch in seiner Forschung für Menschen mit einem erhöhten Krebsrisiko ein, wie für Menschen mit Dyskeratosis congenita.

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.

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.

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.

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。