Department of Pediatrics, University of Michigan, Ann Arbor, Michigan
Biography
Edgar A Otto study rare genetic diseases (ciliopathies) with kidney involvement like Nephronophthisis, Meckel-Gruber Syndrome, Bardet-Biedl Syndrome or Joubert Syndrome. He use positional cloning, exome capture, and NGS to discover causative genes. Recently he identified the novel disease genes SDCCAG8, CEP164, ZNF423, and FAN1 and showed that DNA damage repair plays a role in the pathogenesis of ciliopathies.
