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7,000 challenges: The basis and burden of rare diseases

This webinar is brought to you by the Science/AAAS Custom Publishing Office

7,000 challenges: The basis and burden of rare diseases

Recorded 11 March 2021

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Around 7,000 rare diseases have been identified, impacting an estimated 300 million people around the world, about 4% of the global population. Approximately 50% of those diagnosed with a rare disease are children, and 3 in 10 of them will die before the age of 5. Numbers differ across countries, but it is estimated that in Europe, less than 10% of patients with a rare disease receive treatment and only 1% are managed using an approved treatment plan, making this one of the major global health challenges for the 21st century.

This webinar, the first in a year-long series, will broadly examine critical topics in the rare-diseases field, including the causes of rare diseases, the latest research advances and challenges, and the importance of accurate testing, detection, and diagnosis, as well as policy and human rights issues, particularly in low-income countries.

Join our expert panel as they explain the basis and burden of rare diseases and offer a path forward.

This webinar will last for approximately 60 minutes.

Speaker bios

Tiina Urv, Ph.D.

National Institutes of Health
Bethesda, MD

Dr. Urv is the program director for the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program of the Office of Rare Diseases Research (ORDR) in the National Center for Advancing Translational Sciences (NCATS) at the U.S. National Institutes of Health (NIH) in Bethesda, Maryland. She is a developmental disabilities specialist with a Ph.D. from Columbia University and an undergraduate degree from the University of Washington. As the lead for the RDCRN program, she collaborates with 10 NIH Institutes to manage 22 consortia and RDCRN’s central Data Management and Coordinating Center. RDCRN has more than 200 participating sites in 17 countries and more than 100 patient advocacy groups as research partners, and conducts research on about 200 rare diseases. Before joining the ORDR, she was a program director in NCATS’ Division of Clinical Innovation, and prior to that, she worked as a program director at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) in the Intellectual and Developmental Disabilities Branch. Before joining NIH, she was an assistant professor at the University of Massachusetts Medical School’s Eunice Kennedy Shriver Center and a research scientist at the New York State Institute for Basic Research in Developmental Disabilities. At NICHD, she coordinated the Hunter Kelly Newborn Screening Research Program, chaired the Trans-NIH Fragile X research program, and managed a diverse portfolio of basic, behavioral, and biobehavioral research related to developmental disabilities and rare diseases.

Durhane Wong-Rieger, Ph.D.

Canadian Organization for Rare Disorders (CORD)
Ontario, Canada

Dr. Wong-Rieger received her Ph.D. in psychology from McGill University and was formerly a professor at the University of Windsor, Canada. She is chair of Rare Diseases International, president of the Asia Pacific Alliance of Rare Disease Organisations, treasurer of the United Nations Nongovernmental Committee for Rare Diseases, chair of the Patient Advocacy Constituent Committee of the International Rare Diseases Research Consortium, patient advisor to the Asia-Pacific Economic Cooperation (APEC) Rare Disease Network, a member of the editorial board of The Patient: Patient-Centered Outcomes Research, a member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, and former cochair of the Health Technology Assessment International Interest Group for Patient and Citizen Involvement. In Canada, she is president and CEO of the Canadian Organization for Rare Disorders, chair of the Consumer Advocare Network, president and CEO of the Institute for Optimizing Health Outcomes, and chair of the Canadian Heart Patient Alliance. Dr. Wong-Rieger has served on numerous health policy advisory committees and panels and is a member of Ontario’s Rare Diseases Working Group and a member of the Genome Canada Steering Committee for the Rare Diseases Precision Health Initiative. She is also a certified health coach, trainer, frequent lecturer, and author of three books and many articles.

Peter A. Merkel, M.D., MPH

University of Pennsylvania
Philadelphia, PA

Dr. Merkel is chief of rheumatology and a professor of medicine and epidemiology at the University of Pennsylvania. He is an internationally recognized research and clinical expert in vasculitis and scleroderma and an author on over 300 scientific publications. He is the principal investigator of the U.S.  National Institutes of Health (NIH)-sponsored Vasculitis Clinical Research Consortium (VCRC), a leading international research infrastructure for vasculitis clinical investigation. His research focuses on clinical trial design and conduct, outcome measure development, clinical epidemiology, genetic epidemiology, and biomarker discovery. Dr. Merkel received his M.D. from Yale University and his M.P.H. from Harvard University, and completed his residency training at the Hospital of the University of Pennsylvania and his fellowship at Massachusetts General Hospital/Harvard Medical School. He receives most of his research support from NIH, the U.S. Food and Drug Administration, and the Patient-Centered Outcomes Research Institute, with additional funding from industry sources and private foundations.

Flaminia Macchia, M.A.

Rare Diseases International
Paris, France

Flaminia Macchia is the executive director of Rare Diseases International (RDI). She joined the team in June 2020 to help achieve RDI’s mission to be a strong common voice on behalf of people living with a rare disease around the world. As a patient with the rare disease ulcerative colitis and through her different professional roles, she has been active in the rare-disease patient community for over 20 years. Before joining RDI, she was the Patient Engagement Lead at Vertex Pharmaceuticals (2015–2019) and for 1 year at UCB Biopharma (2019–2020). Prior to that she headed the European Organisation for Rare Diseases (EURORDIS) European and International Public Affairs Team in Brussels from 2004 to 2015, after contributing to EURORDIS as a consultant since 2000. Before joining EURORDIS, Ms. Macchia worked for over 10 years on European Union affairs at the European Parliament and as part of the health team in a leading EU policy consultancy firm. She holds an honors degree from the Université Libre de Bruxelles in political science and an M.A. in international relations with a specialization in EU institutions and Middle Eastern politics from the London School of Economics.

Sean Sanders, Ph.D.

Science/AAAS
Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently, Dr. Sanders is the Director and Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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