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My lab uses genetic approaches to understand complex human diseases. Our goal is to understand primary disease processes and develop targeted therapeutic interventions. We identified that mice with a Col4a1 mutation have pathology in multiple tissues including the lung, kidney, eye and brain. We found COL4A1 mutations in human patients with a spectrum of cerebrovascular diseases and hypothesize that Cesarean delivery of children with COL4A1 mutations could prevent death and life-long disability. We continue to use an array of genetic tools (conditional mutations, modifier screens etc.) to understand developmental (ie. ocular dysgenesis) and age-related human diseases (macular degeneration and hemorrhagic stroke).