Media Advisory

Monday, February 25, 2013

NIH rare disease event to raise awareness, encourage research collaborations

Rare Disease Day, held each year on February 28, was established to raise awareness about the estimated 7,000 rare diseases that affect about 25 million Americans. To mark the occasion in 2013, the NIH will host a free, two-day public event beginning on this day to focus on rare diseases research and advocacy activities supported by several government agencies.

The National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center are organizing and hosting the event. Others involved include the U.S. Food and Drug Administration and Agency for Healthcare Research Quality, and patient organizations, such as the Genetic Alliance and National Organization for Rare Disorders. Register and learn more at


Natcher Conference Center (Building 45) in the main auditorium on the NIH campus, Bethesda, Md., 8:30 a.m.–5 p.m. on Thursday, Feb. 28; and 8:30 a.m.–3:30 p.m. Friday, March 1.

The event will also be available via webcast on February 28 at, and on March 1 at


NCATS Director Christopher P. Austin, M.D. and Stephen Groft. Pharm. D., Director, ORDR, will provide opening remarks on the first day and NIH Clinical Center Director, John I. Gallin, M.D., will kick off the second day.

The agenda will emphasize collaborations and include focuses on:

  • new technologies, such as the NCATS Tissue Chip program, an initiative to improve the process for predicting whether drugs will be safe in humans
  • new rare disease patient registry efforts
  • the value of incorporating patient-reported information in clinical study results

The first day will close with a screening of the Kauffman Foundation’s “Here.Us.Now” documentary about a family’s quest to find a treatment for a rare progressive neurological disease called Niemann-Pick Type C.

There will also be posters and exhibits from groups in the rare diseases research community.


Rare Disease Day was established to raise public awareness about rare diseases, the challenges encountered by those affected, and the importance of research to develop diagnostics and treatments. About 80 percent of rare diseases are genetic in origin, and it is estimated that about half of all rare diseases affect children. In addition, what researchers learn by studying rare diseases often adds to the basic understanding of common diseases.

More Information

The National Center for Advancing Translational Sciences (NCATS) aims to catalyze the generation of innovative methods and technologies that will enhance the development, testing and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. For more information about NCATS, visit

The NIH Clinical Center (CC) 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. For more information, visit

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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