Muscular Dystrophy Cooperative Research Center

描述（由申请人提供）：爱荷华大学MDCRC的总体目标是探索治疗由糖代谢异常引起的各种肌肉营养不良症（糖代谢异常）的治疗策略。该中心将通过对糖异常病的转化研究和提供先进的诊断服务来实现这一总体目标。我们的MDCRC申请包括两个项目，三个核心，以及在基础，转化和临床研究方面具有卓越和合作记录的研究人员。项目1将研究糖营养不良的分子发病机制，并评估各种治疗策略，使用已定义的小鼠模型和已知突变的糖营养不良患者细胞。凯文·坎贝尔将领导这个翻译项目，还有史蒂文·摩尔和弗朗西斯科

DESCRIPTION (provided by applicant): 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.