Team Telomere, Inc.

A Community for Telomere Biology Disorders

Our mission is to provide information and support services to families worldwide affected by Dyskeratosis Congenita and Telomere Biology Disorders, to encourage the medical community’s research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Our Staff

Katie Stevens

Katie Stevens

Executive Director

Katie Stevens has been with Team Telomere since 2014. Katie lives in Hayden, Idaho with her husband, Josh, and their four children. Their oldest child, Riley, was diagnosed with Aplastic Anemia when he was 11. Three months after ATG treatment his telomere lengths were tested. They came back at less than 1%. Katie and her son Riley moved to Boston in July 2015 so that Riley could undergo a stem cell transplant using a protocol written for patients with shortened telomeres. Katie’s goal is to be an advocate and resource not only for the TBD/DC community, but also to the greater rare disease community. In addition to leading Team Telomere, Katie serves as  the Patient Engagement and Advocacy Liaison to the Clinical Care Consortium for Telomere-associated Ailments (CCCTAA), a Global Genes RARE Foundation Leadership Alliance Adviser, and is an active NORD Member Leader.

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

Haley Gonzalez

Haley Gonzalez

Assistant to the Executive Director & Graphic Designer

Haley is our dedicated Graphic Designer and the Assistant of the Executive 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 cuddle with her two dogs, try new recipes with her husband, 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 Graphic Designer encompasses all the those qualities to create beautiful designs for a community that matters!

Our Board

Colleen Verkaik

Colleen Verkaik

President & Chair of Legacy

Colleen Verkaik lives in Northern California with her strong, supportive, and amazing husband, Michael.  She is and will always be a mother to two beautiful boys, Ryan and Tyler, who fought with every ounce of strength they had and lived bravely, boldly and courageously during the time they were given here on earth.  Both boys were diagnosed very young with Dyskeratosis Congenita (Hoyeraal-Hreidarsson syndrome).  Tyler passed away in 2007 at the age of 2 1/2 after complications from his BMT.  Ryan had a successful BMT in 2013, but passed away in 2017 at the age of 14 after lung complications presented and the fight became too big.  While she will always live with a broken heart, Colleen has chosen to honor her boys by connecting with others in the TBD/DC community and walking alongside others who are bravely battling.
Kendall Davis

Kendall Davis

Vice President

Kendall is a driven health advocacy professional with strong community outreach, patient association, health care provider, rare disease and chronic illness expertise. Kendall Davis recently joined the Rare Disease Center of Excellence at PRA Health Science to ensure that the patient voice is not only heard but considered and utilized in the clinical research lifecycle. Kendall previously served as the Director of Strategic Alliances at Global Genes, a leading rare disease patient advocacy organization and has held key roles in patient advocacy and patient education in both the nonprofit and biopharmaceutical 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 and biotechnology space to advance progress in the rare disease community.

Kendall holds a Master’s Degree of Public Health from Michigan State University as well as a Bachelor’s of Science in Psychology from Loyola University, Chicago.

Emily Dziedzic

Emily Dziedzic

Secretary

Emily Dziedzic lives in Portland, Maine and was elected to the board in December 2016. She moved into the Secretary role in December 2017 and is active with the #teamtelomere race team and the Development Committee. She is a licensed Private Pilot, with a Bachelor’s and Master’s degree in Aviation Management. After a 10 year career in the aviation industry, Emily left the field to pursue a career in wellness. She is currently a Licensed Massage Therapist and Craniosacral Therapist with her own practice in Portland, Maine. Emily has been volunteering at Camp Sunshine since 2001 and she fell in love with this community while volunteering during the 2014 and 2016 DC sessions at Camp. Eager to help support the mission of Team Telomere, she started by sending care packages and is now involved at the executive board level.

Ryan McCormack

Ryan McCormack

Treasurer

Ryan joined the board for Team Telomere in September 2018 and was elected into the Treasurer’s Seat in December 2018. Ryan was first introduced to the Team Telomere community through Camp Sunshine in 2016 and has been an avid supporter since. He lives in New York City and is an ETF Strategist for QQQ at Invesco. He has an extensive background in finance, having a BA in Economics from Johns Hopkins University and a long working history with OppenheimerFunds, Merrill Lynch and Morgan Stanley. When he’s not working, Ryan enjoys spending time outdoors: skiing, playing sports and hiking. He also enjoys traveling and spending time with his family on Long Island.

Dena Paffas

Dena Paffas

Board Member & Chair of Communications Committee

Dena Paffas joined the Team Telomere team in September of 2017 to help focus the communication initiatives of the organization. She received her Bachelor’s Degree in Speech and Communications from Millersville University in 2013, and is currently working on her Master’s Degree from the University of Pennsylvania in Organizational Dynamics. Dena works as the Faculty & Staff Coordinator at Penn Dental Medicine and enjoys both living and working in Philadelphia. She is an avid reader and enjoys spending free time with her family and friends.

Jeni Colter

Jeni Colter

Board Member

Jeni Colter was previously a member of Team Telomere’s Outreach committee before joining the board in September 2019. Her daughter, Megan, now 18, was diagnosed in 2016 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. Jeni was diagnosed at 19 with Multiple Sclerosis, giving her many years of practice navigating the many aspects of life with a chronic illness.

Her professional background is in early childhood education. She taught preschool for 15 years before leaving her position last year. She happily lives in Laramie, Wyoming enjoying the beauty of the mountains. She has been happily married for 27 years 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, 25, 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 Gus. One of her goals while serving on the board is to broaden the resources available to the young adult population living with DC. 

Eric Villeneuve

Eric Villeneuve

Board Member & Chair of Outreach Committee

Eric Villeneuve joined Team Telomere in 2018 and currently resides in Durham, North Carolina. He possess a Master’s in Public Health from the University of Pennsylvania and during his graduate program, Eric became involved with Team Telomere while participating as a member of a student led healthcare consulting firm. He works for RTI International as a social science researcher in the Center for Youth, Violence Prevention and Community Justice. His skillset brings a unique approach to criminal justice research by incorporating a public health approach to complex criminal justice problems. He plans to use the expertise gained during his multiple experiences to enhance patient outreach and assistance to better the lives of those suffering with telomere biology disorders.

Tara Hackwelder

Tara Hackwelder

Board Member

Tara is married to her husband, Jason. They have two children: Celtan (age 9) and Elizabeth (age 6). Tara and her family live in Chicora, Pennsylvania. In their spare time, Tara and Jason enjoy taking their children on road trips around the U.S.

Tara has been a member of the Team Telomere community since her daughter, Elizabeth, was diagnosed with shortened telomeres in 2017. Elizabeth is now 6 years old, and although shortened telomeres were confirmed via genetic testing, there has been no known genetic mutation for Telomere Biology Disorders discovered in Elizabeth’s genome. Elizabeth also has another rare syndrome, ZTTK Syndrome, and she was among the first in the world diagnosed with the syndrome in 2015. Since Elizabeth’s diagnosis in 2015 with ZTTK Syndrome, Tara has become a rare disease advocate that is driven to change the landscape of rare disease for both patients and families. She is an admin for her daughter’s ZTTK Syndrome family support group, the ZTTK SONshine Foundation. Tara is also a Foundation Alliance member of Global Genes, and she has experience working directly with rare disease researchers and families worldwide. Tara has coauthored both an abstract and an article on ZTTK Syndrome with researchers. Tara also has a diverse educational background and has a Bachelor of Arts degree from The Pennsylvania State University in Psychology, with a minor in History. Tara also has two graduate degrees: A Master of Arts degree from The Indiana University of Pennsylvania in Sociology, with a focus in Social Policy and Human Services; and a Master of Education Degree from Slippery Rock University of Pennsylvania, with a certification in Secondary Education for both English Language Arts and Social Studies. 

Allison Kiene

Allison Kiene

Board Member

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.

Our Consultants

Maggie Rowe

Maggie Rowe

Education Liaison

Maggie Rowe, LICSW, CCLS, is a clinical Social Worker and Child Life Specialist in Spokane, WA.  She is currently serving as the program coordinator and hospital-school liaison for the Andrew Rypien School, an education program within Sacred Heart Children’s Hospital.  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 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.
Kevin Golembiewski

Kevin Golembiewski

Attorney & Member of the Governance and Nomination Committee

Kevin is an attorney with Berney & Sang, a Philadelphia law firm.  He focuses his practice on appeals, education law, and employment law.

Kevin, who grew up in Jacksonville, Florida, earned his Juris Doctor cum laude from Harvard Law School in 2013, where he served as a general board member of the Harvard Civil Rights-Civil Liberties Law Review and as a co-chair of the Mississippi Delta Project.  In his free time, Kevin serves as the President of the Tampa Lawyer Chapter of the American Constitution Society, volunteers as a mentor at Lockhart Elementary Magnet School, and serves as a Commissioner with the Strong Families Commission.  He also regularly publishes law review articles and op-eds on topics ranging from special education to the Fourth Amendment.  Kevin’s background and experiences related to helping those with disabilities are a great asset to the DCO team.

Board of Medical Advisors

Sharon A. Savage

Sharon A. Savage

MD and Chair of Medical Advisory Board

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.
Jakub Tolar

Jakub Tolar

MD, PhD

Dr. Jakub Tolar is Dean of the University of Minnesota Medical School and Vice President ad interim for Health Sciences. A pediatric 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. 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. Tolar is a Distinguished McKnight Professor and co-chairs Regenerative Medicine Minnesota, a state-supported program funding research, biotechnology, and education to support development of regenerative medicine infrastructure in the state.
Timothy Olson

Timothy Olson

MD, PhD

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.

Rodrigo T. Calado

Rodrigo T. Calado

MD, PhD

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.

Suneet Agarwal

Suneet Agarwal

MD, PhD

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.
Alison Bertuch

Alison Bertuch

MD, PhD

Dr. Bertuch is an associate professor of both pediatrics and molecular and human genetics at Baylor College of Medicine in Houston, Texas. She also directs the Bone Marrow Failure Program at Texas Children’s Cancer and Hematology Centers. She is a member of the Telomere Biology and Cancer Genomics Program and her research focuses on the mechanisms of telomere structure and function.
F. Brad Johnson

F. Brad Johnson

MD, PhD

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, CGC

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 16 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.

Global Ambassadors

Megan Stephens

Megan Stephens

Pacific Global Ambassador

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

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!

Claire Brookes

Claire Brookes

UK Global Ambassador

My name is Claire Brookes, I live in Portsmouth in the south of England.I am really excited to be a part of Team Telomere as a Global Ambassador. I live with my husband, son and daughter, and work as a pre school practitioner. My son Jayden was diagnosed with dc when he was 3 years old after he presented with low blood counts at 20 months old. Jayden had a bmt in 2012 aged 8. He is now 14 and doing really well.

I am looking forward to working with fellow UK families and letting them know they are never alone in this journey.

Jacquie Roskell

Jacquie Roskell

UK Global Ambassador

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

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.

Christian Kratz

Christian Kratz

MD, German Medical Advisor

Herr Prof. Dr. med. Christian Kratz wurde in Neuss bei Düsseldorf geboren. Er studierte Humanmedizin in Bochum, Düsseldorf und Johannesburg. Seine Ausbildung zum Kinderarzt erhielt er an der Kinderklinik der Heinrich-Heine-Universität in Düsseldorf. Im Jahre 1999 wurde er mit einem Stipendium der Mildred-Scheel-Stiftung zur Durchführung eines zweijährigen Forschungsprojektes über Leukämien an der Universität von Kalifornien in San Francisco ausgezeichnet.

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.

Amy Pilon

Amy Pilon

Canada Global Ambassador

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
Rosario Perona

Rosario Perona

Spain Global Ambassador

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.

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