Rare disease research focus at 2nd annual NIH event

Episode # 90
Uploaded: March 16, 2012
Running Time: 03:09

CROWN: From the National Institutes of Health in Bethesda, Maryland, this is CLINICAL CENTER RADIO.

NIH joined with government agencies and advocacy organizations to recognize Rare Disease Day, an annual observance that is gaining strength worldwide. The event is co-sponsored by the Office of Rare Diseases Research, part of the National Center for Advancing Translational Sciences, and the Clinical Center. It focuses on bringing together scientists and other key stakeholders to discuss cutting-edge research, new technologies, and treatments for some of the most uncommon conditions. Dr. Stephen Groft, director of the Office of Rare Diseases Research at NIH:

GROFT: With rare diseases we find that you need multiple partners to have a successful approach to the development of any interventions. And the approach that we are talking about will include participation by the research community. It will include, naturally, the patients or the patient advocacy groups, (and) the NIH researchers in the intramural program and the extramural research program, as well as the regulatory scientists at the Food and Drug Administration. And, lastly, a major partner is the pharmaceutical industry that we hope will produce the products that come out of the research that is being conducted and supported by the National Institutes of Health.

CROWN: As an annual event, Rare Disease Day has only been around for five years. It was first observed in Europe in 2008. But hosting an event at the Clinical Center was a natural fit for NIH, which focuses on a variety of different types of research, including rare and undiagnosed diseases.

GROFT: It raises a great deal of curiosity about what is causing this disease. What is the basic mechanism? I think many times, too, the physicians and the scientists who are involved in rare diseases come upon a question. They see the needs of the patient and the families. They make a personal commitment that they are going to try to evaluate what is going on and really to understand the disease better by generating research studies that will answer the questions to provide they need to enable research to move forward, hopefully, to the point of developing an intervention or diagnostic for that rare disease.

CROWN: If you would like to know more about NIH’s current studies, search them online at clinicalstudies.info.nih.gov. America's Clinical Research Hospital, this has been CLINICAL CENTER RADIO. In Bethesda, Maryland, I'm Ellen Crown, at the National Institutes of Health, an agency of the United States Department of Health and Human Services.

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