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Discovering Drugs for Orphan Diseases

  • Friday, September 30, 2016
  • 1:30 PM–2:30 PM
  • Science Building 010

Robin Rylaarsdam, Professor and Chair of Biology, Benedictine University

Abstract: An orphan disease is one that affects fewer than 200,000 people in the US. One such disease is McCune-Albright Syndrome, a genetic disorder characterized by bone dysplasia, skin hyperpigmentation, precocious puberty, and other endocrinopathies. The cause of McCune-Albright Syndrome is a mutation in the heterotrimeric G-protein alpha subunit Gs that is acquired during embryonic development and results in a continually active protein. Using a combination of a genetics, cell biology, structural biology, and computational biochemistry, we have identified two candidate molecules that correct this genetic defect. 

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