Rare Diseases

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

All about the Human Genome Project (HGP) (National Human Genome Research Institute)
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
Learning about an Undiagosed Condition in a Child (National Human Genome Research Institute)
Learning about an Undiagosed Condition in an Adult (National Human Genome Research Institute)
Orphan Products: Hope for People with Rare Diseases (Food and Drug Administration)

Clinical Trials

ClinicalTrials.gov: Rare Diseases (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

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