The overall goal of the University of Iowa MDCRC is to explore therapeutic strategies for the treatment of various muscular dystrophies arising from the abnormal processing of dystroglycan (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, three cores, and investigators with a proven track record of excellence and collaboration in basic, translational and clinical research. Project 1 will investigate the molecular pathogenesis of the dystroglycanopathies and evaluate various therapeutic strategies, using defined mouse models and dystroglycanopathy patient cells with known mutations. Kevin Campbell will lead this translational project and Steven Moore and Francesco Muntoni will participate in it. A major asset for this project is our recently awarded "GO grant" aimed at the discovery of small molecule effectors of dystroglycan glycosylation. Project 2 will identify and characterize dystroglycanopathy patients and develop infrastructure for therapeutic trials in defined cohorts. Katherine Mathews will be the project leader on this clinical project with participation from Carsten Bonnemann. Core A (Campbell and Moore) is an administrative core and will coordinate the activities within and outside the Center as a means to promote an interactive and collaborative research environment. Core B (Moore), a Muscle-Tissue/Cell-Culture/Diagnostics Core, will serve as a national tissue and cell-culture resource for research, as well as a laboratory for patient diagnostic testing and post-intervention biopsy evaluation for clinical trials. Finally, Core C (Campbell and Mathews) will coordinate our Research Training and Education initiative. Among the support it provides will be a fellowship enabling one medical student per year to perform research in the Center and to participate in the care of patients alongside Katherine Mathews. Thus, the highly integrated cores and projects, coupled with the expanded collaboration with national and international leaders in the field of dystroglycanopathies, will accelerate the tempo of discovery in preclinical translational research, and establish the clinical-trial readiness of a cohort of dystroglycanopathy patients.
Our MDCRC renewal promotes the NIH mission by enabling pre-clinical and clinical translational research on the dystroglycanopathies, providing advanced diagnostic services and training of basic and clinical scientists. The coordinated focus of the five integrated cores and projects is to translate basic science research discoveries into the diagnosis and treatment of patients with dystroglycan-associated muscular dystrophies.
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|Yang, Amy C; Ng, Bobby G; Moore, Steven A et al. (2013) Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab 110:345-51|
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