Muscular Dystrophy Cooperative Research Center

描述（由申请人提供）：肌营养不良是一组不同的遗传性疾病，其特征是进行性肌无力和消瘦。这个肌营养不良症合作研究中心的总体目标是探索各种肌营养不良症的治疗策略。该中心将通过对肌营养不良症的转化研究和提供先进的诊断服务来实现这一总体目标。MDCRC由三个研究项目，三个核心和研究人员组成，具有卓越和合作的良好记录。主任和联合主任，凯文坎贝尔和史蒂芬摩尔，是研究人员与建立记录的基础，转化和临床研究肌营养不良症。项目1（坎贝尔和Barresi）将使用小鼠模型探索改善肌膜维持和修复的治疗潜力，用于治疗杜氏肌营养不良症。项目2（马修斯、坎贝尔、韦斯和罗米蒂）将研究具有弗氏相关蛋白突变的肌营养不良症患者，并开发小鼠模型，以了解这种疾病的发病机制和可能的治疗策略。项目3（Yang，威廉姆森和Barresi）将研究胚胎干细胞作为干细胞治疗工具的发展。核心A（坎贝尔和摩尔）是一个行政核心，将协调中心内外的活动，并将促进互动和合作的研究环境。核心B（摩尔和Barresi）是一个肌肉组织/细胞培养/诊断核心，将作为国家组织和细胞培养资源的研究，以及实验室的病人诊断和干预后活检评估的临床试验。最后，核心C（威廉姆森和杨），人类胚胎干细胞靶向核心，将使用基因靶向策略产生具有特定肌营养不良突变的胚胎干细胞系，从而作为国家靶向干细胞资源。

Description (provided by applicant): Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The overall goal of this Muscular Dystrophy Cooperative Research Center is to explore therapeutic strategies for the treatment of various muscular dystrophies. The Center will achieve this overall goal by enabling translational research on muscular dystrophies and providing advanced diagnostic services. The MDCRC is composed of three research projects, three cores and investigators with a proven track record of excellence and collaboration. The Director and Co-director, Kevin Campbell and Steven Moore, are investigators with established records in basic, translational and clinical research on muscular dystrophy. Project 1 (Campbell and Barresi) will use mouse models to explore the therapeutic potential of improving muscle membrane maintenance and repair for the treatment of Duchenne muscular dystrophy. Project 2 (Mathews, Campbell, Weiss and Romitti) will study muscular dystrophy patients with fukutin related protein mutations and develop mouse models in order to understand the pathogenesis of this disease and possible therapeutic strategies. Project 3 (Yang, Williamson and Barresi) will study the development of embryonic stem cells as therapeutic tools for stem cell treatments. Core A (Campbell and Moore) is an administrative core which will coordinate the activities within and outside the Center and will promote an interactive and collaborative research environment. Core B (Moore and Barresi) is a Muscle Tissue/Cell Culture/Diagnostics Core that will serve as a national tissue and cell culture resource for research as well as a laboratory for patient diagnostic and post-intervention biopsy evaluation for clinical trials. Finally, Core C (Williamson and Yang), the Human ES Cell Targeting Core, will use gene targeting strategies to produce ES cell lines with specific muscular dystrophy mutations, and thus serve as a national resource of targeted stem cells.