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  2. Research at NIH
  3. Rare Diseases

Rare Diseases

Topics

  • Anthrax
  • Ataxia Telangiectasia
  • Childhood Leukemia
  • Congenital Muscular Dystrophy
  • Cystic Fibrosis
  • Esophageal Cancer
  • Liver Cancer
  • Malaria
  • Mucopolysaccharidoses (MPS)
  • Myasthenia Gravis
  • Orphan Drugs
  • Osteogenesis Imperfecta
  • Pancreatic Cancer
  • Spinal Muscular Atrophy
  • Usher Syndrome
  • Amyotrophic Lateral Sclerosis (ALS)
  • Cooley's Anemia
  • Hepatitis - A
  • Muscular Dystrophy
  • Pediatric Cardiomyopathy
  • Primary Immunodeficiencies
  • Transmissible Spongiform Encephalopathy (TSE)
  • Tuberculosis
  • Tuberculosis Vaccine
  • Hodgkin's Disease
  • Orthopox Viruses
  • Paget's Disease
  • Pediatric Cancer
  • Spina Bifida
  • Stomach Cancer
  • Charcot-Marie-Tooth Disease
  • Ovarian Cancer
  • Sickle Cell Disease
  • Dystonia
  • Sudden Infant Death Syndrome
  • Valley Fever
  • Neuroblastoma
  • West Nile Virus
  • Neurofibromatosis
  • Batten Disease
  • Brain Cancer
  • Vaginal Cancer
  • Fragile X
  • Huntington's Disease
  • Hydrocephalus
  • Rett Syndrome
  • Tuberous Sclerosis
Browse all topics A-Z Browse all research areas A-Z
  • Overview
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  • Investigators

The Rare Diseases Research Area includes research on the causes, diagnosis, prevention, and treatment of diseases that affect fewer than 200,000 individuals in the United States. These diseases are typically listed on the Genetic and Rare Disease (GARD) and Surveillance, Epidemiology, and End Results (SEER) Program databases. This area also includes research on rare subtypes of non-rare diseases and non-rare diseases that co-occur with rare diseases.

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