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营养不良糖链异常加工引起的各种肌营养不良症(血糖营养不良症)的治疗策略。该中心将通过实现对血糖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。我们的MDCRC应用程序由两个项目、三个核心和研究人员组成，他们在基础、翻译和临床研究方面具有卓越的合作记录。项目1将使用已定义的小鼠模型和具有已知突变的血糖营养不良症患者细胞，研究血糖营养不良症的分子发病机制，并评估各种治疗策略。凯文·坎贝尔将领导这个翻译项目，史蒂文·摩尔和弗朗西斯科 蒙托尼将参与其中。该项目的一项主要资产是我们最近授予的旨在发现肌营养不良糖链糖基化小分子效应器的“GO赠款”。项目2将确定和描述血糖营养不良症患者的特征，并为确定的队列中的治疗试验开发基础设施。凯瑟琳·马修斯将是这个临床项目的项目负责人，卡斯滕·邦曼将参与其中。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，以促进互动和协作的研究环境。核心B(摩尔)是一个肌肉组织/细胞培养/诊断核心，将作为用于研究的国家组织和细胞培养资源，以及临床试验的患者诊断测试和干预后活组织评估的实验室。最后，核心C(坎贝尔和马修斯)将协调我们的研究、培训和教育倡议。它提供的支持包括一项奖学金，使每年一名医学生能够在该中心进行研究，并与凯瑟琳·马修斯一起参与病人的护理。因此，高度整合的核心和项目，再加上在血糖营养不良领域与国内和国际领先者的扩大合作，将加快临床前转化研究的发现速度，并为一批血糖营养不良患者建立临床试验准备。

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.