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.
- 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
- All about the Human Genome Project (HGP) (National Human Genome Research Institute)
- Frequently Asked Questions about Rare Diseases (National Human Genome Research Institute)
- Genetic and Rare Diseases Information Center
- Genetics Home Reference (National Library of Medicine)
- 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)
- Rare Diseases Clinical Research Network
- Tips for the Undiagnosed (Genetic and Rare Diseases Information Center)
- ClinicalTrials.gov: Rare Diseases (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Survival for patients with rare haematologic malignancies: Changes in the...
- Article: Dealing with Uncertainty and Accounting for Social Value Judgments in...
- Article: Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical...
- Rare Diseases -- see more articles
Find an Expert
- How to Find a Disease Specialist (Genetic and Rare Diseases Information Center)