Rare Diseases

A disease is rare, or "orphan," if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Some diseases affect fewer than 100 people nationwide.

Find Information about a Rare Disease
The Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH) offers a list on their website of rare diseases and related terms .

If you are unable to locate the information you are looking for online, plcontact the ORDR by e-mail at ordr@od.nih.gov , or by phone or mail at:

Phone: 1.888.205.2311 or 1.301.402.4336
Fax: 1.301.480.9655
Office of Rare Diseases Research
National Institutes of Health
6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda MD 20892-7518

The Genetic and Rare Diseases Information Center (GARD) employs specialists to answer questions in English and Spanish from the general public, including patients and their families, healthcare professionals and biomedical researchers.

Please note: The GARD Information Center does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment, or advice.

Contact GARD by e-mail , or by phone or mail at:

Phone: 1.888.205.2311 or 1.301.251.4925
TTY: 1.888.205.3223
Fax: 1.301.251.4911
The Genetic and Rare Diseases Information Center
PO Box 8126
Gaithersburg MD 20898-8126

February 29, 2012, is Rare Disease Day .