HomeHealth Specific Genetic Disorders

Specific Genetic Disorders

Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI). For more information on genetic disorders, see An Overview of Genetic Disorders.

Below you will find a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. If the condition you are looking for is not listed below, you might be able to find other resources of information in our listing of other Web sites, "Online Health Resources."

Conditions on this list that are in bold, are currently under investigation at NHGRI.

• Autoimmune Lymphoproliferative Syndrome (ALPS)
• Breast cancer
• Charcot-Marie-Tooth
• Colon cancer
• Cystic fibrosis
• Duane Syndrome
• Guillain-Barré Syndrome
• Hemochromatosis
• Huntington's disease
• Parkinson's disease
• Progeria
• Prostate Cancer
  • National Cooperative Study of Hereditary Prostate Cancer in African Americans
• Sickle cell disease
• Skin Cancer
• Tay-Sachs
• Thalassemia
• Trimethylaminuria

If the condition you are looking for is not listed above, you might be able to find other resources of information in our listing of additional Web sites at: Online Health Resources.

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Last Reviewed: October 2004