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)

• Article: Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers...
• Article: Neutral theory: applicability and neutrality of clinical study endpoints where a...
• Article: A heterozygous mutation in UBE2H in a patient with developmental delay...
• Rare Diseases -- see more articles

Find an Expert

• Contact Us (Genetic and Rare Diseases Information Center)