What is a Rare Disease?

A rare disease is a disease or condition that affects fewer than 200,000 people in the United States. It is estimated that more than 25 million people in the United States have a type of rare disease.

What is ORDR?

The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), the Federal focal point for health research. ORDR coordinates and supports rare diseases research, responds to research opportunities for rare diseases, and provides information on rare diseases. In 2002, the Congress and President Bush established ORDR and its responsibilities in statute by enacting and signing Public Law 107–280, The Rare Diseases Act of 2002.

What Does ORDR Do?

• Recommends an agenda for conducting rare diseases research.
• Supports research and training of NIH rare diseases investigators, together with NIH Institutes and Centers, at the NIH Clinical Center hospital and medical research centers throughout the Nation.
• Supports a rare diseases clinical research network (http://www.rarediseasesnetwork.org/) and other scientific opportunities.
• Coordinates and encourages cooperation in rare diseases research.
• Responds to scientific opportunities and builds international collaborations.
• Supports an extensive scientific conferences program.
• Cosponsors, with the National Human Genome Research Institute, the Genetic and Rare Diseases Information Center.
• Provides information on genetic and acquired rare diseases in English and Spanish to patients, their families, health care professionals, and researchers.
• Compiles yearly reports for Congress and the public about NIH-supported scientific research plans on rare diseases.

What Is the ORDR Web Site?

The ORDR Web site links to:

• Information on many of the more than 6,000 rare diseases known today (http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1).
• Contact information for the Genetic and Rare Diseases Information Center.
• Planned, ongoing, or completed clinical studies and trials.
• Research funding opportunities from NIH and other sources.
• Patient recruitment and referral procedures for the NIH Clinical Center hospital.
• Publications and reports.
• National and international voluntary health organizations (patient advocacy groups).
• Genetic counseling and testing.
• Information on transportation and lodging for patients and their families during diagnosis and treatment.
• Information on ORDR-sponsored scientific conferences.
• Other issues of interest to patients with rare diseases, their families, researchers, health care professionals, and the general public.

For Information about Rare Diseases

Genetic and Rare Diseases Information Center (GARD)
P.O. Box 8126
Gaithersburg, MD 20988-8126
Toll-free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 5193194
E-mail: GARDinfo@nih.gov

Office of Rare Diseases Research (ORDR)
6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda, Maryland 20892-7518
Telephone: (301) 402-4336
Fax: (301) 480-9655
E-mail: ordr@od.nih.gov