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
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All about the Human Genome Project (HGP)
(National Human Genome Research Institute)
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Frequently Asked Questions about Rare Diseases
(National Human Genome Research Institute)
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Genetic and Rare Diseases Information Center
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Genetics Home Reference
(National Library of Medicine)
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Learning about an Undiagosed Condition in a Child
(National Human Genome Research Institute)
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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)
- Rare Diseases Clinical Research Network
Related Issues
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Tips for the Undiagnosed
(Genetic and Rare Diseases Information Center)
Also in Spanish
Clinical Trials
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ClinicalTrials.gov: Rare Diseases
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
Find an Expert
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How to Find a Disease Specialist
(Genetic and Rare Diseases Information Center)
Also in Spanish