Rare Hereditary Diseases

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

 

  • Phenylketonuria
  • Turner syndrome

Related Conference of Rare Hereditary Diseases

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11th World Congress on Rare Diseases and Orphan Drugs

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9th International Congress on Infectious Diseases

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