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Summary
A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one.
Rare diseases:
- May involve chronic illness, disability, and often premature death
- Often have no treatment or not very effective treatment
- Are frequently not diagnosed correctly
- Are often very complex
- Are often caused by changes in genes
It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one.
NIH: National Institutes of Health
Learn More
-
Frequently Asked Questions about Rare Diseases
(National Human Genome Research Institute)
Also in Spanish
-
Genetic and Rare Diseases Information Center
-
Genetics: MedlinePlus Genetics
(National Library of Medicine)
Also in Spanish
-
Human Genome Project (HGP)
(National Human Genome Research Institute)
- Rare Diseases at FDA (Food and Drug Administration)
-
Undiagnosed Condition in a Child FAQ
(National Human Genome Research Institute)
-
Undiagnosed Condition in an Adult FAQ
(National Human Genome Research Institute)
Clinical Trials
-
ClinicalTrials.gov: Rare Diseases
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
Find an Expert
-
Contact Us
(Genetic and Rare Diseases Information Center)
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.