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Investigates the molecular pathogenesis of the dystroglycanopathies and evaluates various mechanistic defects that lead to abnormalities in dystroglycan glycosylation, using cells from dystroglycanopathy patients with known mutations and state-of-the-art biological, cell biological and glycobiological approaches.
Identifies and characterizes dystroglycanopathy patients while developing an infrastructure for therapeutic trials in defined cohorts. This clinical research project extends current knowledge about disease manifestations and variables that impact progression through a natural history study.
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