News Release

Thursday, February 16, 2012

Rare Disease Day at NIH raises awareness and highlights cutting-edge research


The National Institutes of Health will celebrate the Fifth Annual Rare Disease Day February 29 with a day-long celebration co-sponsored by the Office of Rare Diseases Research-National Center for Advancing Translational Sciences, and the NIH Clinical Center. The event will recognize rare diseases research activities supported by several government agencies and advocacy organizations.

Attendance is free and open to the public and the media, and pre-registration is encouraged. In association with the Global Genes Project (a grassroots effort to use jeans to raise awareness for rare genetic disorders), organizers urge all attendees to wear their favorite pair of jeans.

Those interested can register and learn more at


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. There are about 7,000 rare diseases identified in the United States affecting an estimated 25 million Americans. 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.


Organizers have put together an agenda of scheduled talks covering new technologies, such as genetic sequencing and stem cell therapies; new research paradigms like accelerated drug development; and new rare diseases, including PANDAS.

NIH Director Dr. Francis S. Collins will make remarks.


Rare Disease Day at NIH will be held in the NIH Clinical Center (Building 10) in Masur Auditorium on February 29, 2012, from 8:30 am to 5:30 pm.

Additionally, the U.S. Food and Drug Administration will hold a Rare Disease Patient Advocacy Day on March 1. For more information, visit
or call Sandy Walsh at 301-796-4669.

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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