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 NIH Office of Rare Diseases Resources 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 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 Rare Diseases Clinical Research Network Clinical Trials ClinicalTrials.gov: Rare Diseases National Institutes of Health Genetics Genetics Home Reference: Genetic Conditions National Library of Medicine NIH MedlinePlus Magazine Medical Mysteries: “Thankful They Found a Cause” Medical Mysteries: “We Feel Deep Compassion for Patients…” Medical Mysteries: NIH Clinical Center: There’s No Other Hospital Like It Medical Mysteries: NIH Undiagnosed Diseases Program On the Front Lines of Rare Disease Research Patient Power! Promise and Payoff of Rare Diseases Research Putting a Face on Rare Diseases Journal Articles Rare Diseases
