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

• Genetic and Rare Diseases Information Center
• Genetics: MedlinePlus Genetics (National Library of Medicine) Also in Spanish
• Help for People with Undiagnosed Medical Conditions (National Organization for Rare Disorders)
• Human Genome Project (National Human Genome Research Institute)
• Rare Diseases at FDA (Food and Drug Administration)
• Rare Diseases FAQ (National Human Genome Research Institute) Also in Spanish
• RareDx for Parents: A Guide to Navigating a Rare Disease Diagnosis (National Organization for Rare Disorders) Also in Spanish

Clinical Trials

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

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

• Article: Stiff-Person Syndrome: A Comprehensive Review of a Rare Disease with Emphasis...
• Article: Rare Diseases as Engines of Biomedical Innovation: Lessons for Gene Therapy...
• Article: Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.
• Rare Diseases -- see more articles

Find an Expert

• Contact Us (Genetic and Rare Diseases Information Center)