Media Advisory

Tuesday, February 25, 2014

NIH rare diseases event to feature research and collaboration progress


NIH’s annual celebration of Rare Disease Day is held to raise awareness about the more than 6,500 rare diseases that affect about 25 million Americans. To mark the seventh annual occasion, NIH will host a free, public event to spotlight the challenges encountered by those affected and the significant research and collaboration activities that are helping to make a difference and leading to the development of new diagnostics and treatments.

The event will feature tours, presentations, posters and exhibits from the rare diseases research community. Topics include medical devices for rare diseases, using advanced imaging techniques for insights into a rare genetic heart disease, and the establishment of an Undiagnosed Diseases Network.


Feb., 28, 2014
8:30 a.m. – 5 p.m.
NIH Clinical Center (Building 10), Masur Auditorium, Bethesda, Md.


The event is presented by the National Center for Advancing Translational Sciences’ (NCATS) Office of Rare Diseases Research and the NIH Clinical Center. Speakers include Congressman Leonard Lance, (NJ-07), co-chair of the Rare Disease Caucus; NIH Director Francis S. Collins, M.D., Ph.D.; NCATS Director Christopher P. Austin, M.D.; and NIH Clinical Center Director John I. Gallin, M.D. In addition, the Wall Street Journal’s Amy Marcus will provide her perspective as a journalist covering rare diseases and the NIH cyclodextrin trial featured in Trials .

Partner organizations include the U.S. Food and Drug Administration, National Organization for Rare Disorders, Genetic Alliance, Global Genes Project and Uplifting Athletes.

The National Center for Advancing Translational Sciences is a distinctly different entity in the research ecosystem. Rather than targeting a particular disease or fundamental science, NCATS focuses on what is common across diseases and the translational process. The Center emphasizes innovation and deliverables, relying on the power of data and new technologies to develop, demonstrate and disseminate improvements in translational science that bring about tangible improvements in human health. More information:

The NIH Clinical Center is the clinical research hospital for the National Institutes of Health. Through clinical research, clinician-investigators translate laboratory discoveries into better treatments, therapies and interventions to improve the nation's health. More information:

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

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