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Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2003

Executive Summary
Research Activities on Rare Diseases Supported by NIH: FY 2003

The Rare Diseases Act of 2002, P.L. 107-280, instructs the Director of the Office of Rare Diseases, National Institutes of Health (NIH), to prepare the NIH Director's annual report to Congress on rare disease research activities. The annual report presents the contributions and research advances of the fiscal year (FY) 2003 NIH extramural and intramural research programs and of the Office of Rare Diseases (ORD) and other research offices.

Responses from the individual Institutes and Centers (ICs), ORD, and other offices highlight four major rare diseases areas: An overview of ongoing rare diseases research activities, recent scientific advances in rare diseases research, new or planned rare diseases research initiatives, and rare disease-related activities such as scientific workshops and symposia, information dissemination, and other rare diseases related activities. Many advances presented are the direct result of years of basic rare diseases research sponsored by NIH. Patients with rare diseases continue to benefit from the treatment applications realized by the emphasis NIH places on both basic and clinical intramural and extramural research.

This report uses the definition of rare diseases as set forth in the Orphan Drug Act: A disease or condition with a prevalence of fewer than 200,000 people in the United States. Prevalence refers to the number of individuals alive with the disease within a geographic parameter, i.e., the United States. There are more than 6,000 rare diseases in the United States (for a listing of rare diseases terms see Rare diseases are thought to affect approximately 25 million people (Rare Diseases Act of 2002, Section 2, Findings).

Activities undertaken in FY 2003 by ORD included:
  • Initiating the ORD Rare Diseases Extramural Research Program by cosponsoring with NIH ICs seven rare diseases clinical research center consortia and a data coordination center all of which comprise the Rare Diseases Clinical Research Network. The Network is described in detail later in this report. The Network is co-sponsored by NCRR, NIAMS, NICHD, NIDDK, and NINDS.

  • Initiating the ORD rare diseases intramural research program that promotes fellowship training in the areas of clinical and basic research into rare diseases, fosters protocol-based initiatives into rare diseases not currently investigated in the intramural program, assists in the investigation of select, unique disorders of unknown etiology, and provides overall research support for diagnostics and therapeutics of rare diseases.

  • Cosponsoring 57 scientific conferences in FY 2003 and, in to date in FY 2004, 39 scientific conferences, the titles of which are listed in this report. The scientific conferences continue to establish research priorities, develop program announcements, establish diagnostic and monitoring criteria, develop animal models, support development of patient and tissue registries, development of research protocols and collaborative research arrangements, and disseminate workshop results.

  • Expanding together with the NHGRI the reach of the Genetic and Rare Diseases Information Center by providing information services in Spanish as well as English to bring information about rare diseases research to patients and their families, healthcare providers, researchers, and the public.

  • Providing support for Bench-to-Bedside Grants in the NIH Clinical Center. With support from the ICs, ORD plans to increase the number to 20 active grants each year.

  • Soliciting applications for Rare Diseases Demonstration Projects (R-21) or proof-of-concept studies with National Heart, Lung, and Blood Institute. Awards are expected to be made in FY 2004.

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Last Reviewed: January 28, 2005
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