Muscular Dystrophy Cooperative Research Center

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 DESCRIPTION (provided by applicant): The overall goal of the University of Iowa MDCRC is to perform pre-clinical and clinical translational research on the various muscular dystrophies that arise from abnormal processing of the dystroglycan protein (dystroglycanopathies). The Center will achieve this overall goal by enabling translational research on the dystroglycanopathies, and providing advanced diagnostic services. Our MDCRC application is composed of two projects and three cores, all of which are directed by investigators with a proven track record of excellence and collaboration in basic, translational and clinical research. Project 1 (Campbell) will investigate the molecular pathogenesis of the dystroglycanopathies and evaluate various mechanistic defects that lead to abnormalities in dystroglycan glycosylation, using cells from dystroglycanopathy patients with known mutations. A major asset for this project is our recently developed enzymatic assays for several dystroglycanopathy genes. Project 2 (Mathews) will identify and characterize dystroglycanopathy patients of all genotypes, and define outcome measures that can be used to evaluate disease progression in defined cohorts during therapeutic trials. Candidate modifier genes and serum biomarkers will also be established and evaluated in different patient populations. Core A (Campbell and Moore) is an administrative core that will coordinate the activities within and outside the Center, as a means to promote an interactive and collaborative research environment, and to engage patients in muscular dystrophy research. Core B (Moore), a Muscle-Tissue/Cell-Culture/Diagnostics Core, will support Projects 1 and 2, serve as a national tissue and cell-culture resource for research, provide specialized diagnostic testing for a wide range of muscular dystrophies, and maintain the infrastructure needed for the evaluation of muscle biopsies during clinical trials. Finally, Core C (Mathews and Campbell) will coordinate our Training and Education initiative. Among the support this Core provides will be fellowships enabling two medical students per year to perform research in the Center and to participate in the care of patients alongside Dr. Mathews. The highly integrated cores and projects of this Center, coupled with extensive collaborations with national and international leaders in the field of dystroglycanopathies, will accelerate the tempo of discovery in preclinical translational research, and also establish the clinical-trial readiness of a cohort of dystroglycanopathy patients.