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
Treatments and Therapies
- Orphan Products: Hope for People with Rare Diseases (Food and Drug Administration)
- Learning about an Undiagosed Condition in an Adult (National Human Genome Research Institute)
Statistics and Research
- All about the Human Genome Project (HGP) (National Human Genome Research Institute)
- ClinicalTrials.gov: Rare Diseases (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Small Cell Carcinoma of the Urinary Bladder: A Retrospective, Multicenter...
- Article: Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs.
- Article: New consent requirements for newborn screening raise concerns.
- Rare Diseases -- see more articles
Finance and Policy
- Compassionate Allowances (Social Security Administration)
- Developing Orphan Products: FDA and Rare Disease Day (Food and Drug Administration)
- Financial Assistance Information (National Human Genome Research Institute)
- Support for Patients and Families (Office of Rare Diseases)
- Learning about an Undiagosed Condition in a Child (National Human Genome Research Institute)