Muscular Dystrophy Cooperative Research Center

描述(申请人提供)：肌营养不良症是一组不同的遗传性疾病，以进行性肌肉无力和消瘦为特征。这个肌营养不良合作研究中心的总体目标是探索治疗各种肌肉营养不良的治疗策略。该中心将通过实现对肌营养不良症的转译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、三个核心和调查人员组成，并在卓越和合作方面取得了良好的成绩。主任和联席主任凯文·坎贝尔和史蒂文·摩尔是研究人员，他们在肌肉营养不良的基础、翻译和临床研究方面都有既定的记录。项目1(Campbell和Barresi)将使用小鼠模型探索改善肌膜维护和修复治疗Duchenne肌营养不良症的治疗潜力。项目2(Mathews、Campbell、Weiss和Romitti)将研究带有Fukutin相关蛋白突变的肌肉营养不良患者，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(杨、威廉姆森和巴雷西)将研究将胚胎干细胞作为干细胞治疗的治疗工具的发展。核心A(坎贝尔和摩尔)是一个行政核心，它将协调中心内外的活动，并将促进一个互动和协作的研究环境。核心B(摩尔和巴雷西)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用于研究，以及临床试验的患者诊断和干预后活检评估的实验室。最后，核心C(威廉姆森和杨)，人类ES细胞靶向核心，将使用基因靶向策略来生产具有特定肌肉营养不良突变的ES细胞系，从而成为全国靶向干细胞的来源。

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.