Administrative Core

管理核心： 摘要 全国儿童医院研究所基因治疗中心 (RINCH)有一个专门的翻译计划，目标是肌肉营养不良症， 特别是长期以来对为最常见的形式开发有意义的疗法的兴趣， 包括Duchenne肌营养不良症(DMD)和面肩肱骨肌营养不良症 (FSHD)。我们中心的目标包括解开疾病的发病机制和开发新的 治疗范例可以从长凳转换到床边，然后在这个 CORT提议，我们寻求加快这一翻译进程。 项目1(PI，Paul Martin，PhD)寻求将目前进入DMD试验的一种疗法扩展到其他 通过应用Galgt2的过表达来表现肌营养不良 骨骼肌糖基化，促进改善疾病的蛋白质的表达。 项目2(Pi，Scott Harper，PhD)探索了调节基因表达的新方法 DUX4基因用于治疗相对常见和虚弱的FSHD。项目3(PI，Kevin 马里兰州弗拉尼根)寻求快速翻译一种新发现的肌营养不良蛋白机制 将控制转化为对患有DMD的男孩有意义的治疗。 行政核心的作用将是：(1)促进以下各项之间的科学整合 三个项目；(2)监督CORT的预算和报告方面；(3)制定和 组织咨询委员会的工作；和(4)培育或确定试点项目和可行性项目 提交给NIAMS供资金审议。在更广泛的层面上，行政核心 将负责最大限度地提高此CORT与其他现有CORT之间的协同 在RINCH和俄亥俄州立大学的翻译工作。

Administrative Core: Abstract The Center for Gene Therapy at The Research Institute of Nationwide Children's Hospital (RINCH) has a dedicated translational program that targets the muscular dystrophies, with a particular longstanding interest in developing meaningful therapies for the most common forms, including Duchenne muscular dystrophy (DMD) and facioscapulohumeral muscular dystrophy (FSHD). Our Center's goals include unraveling disease pathogenesis and developing new treatment paradigms that can be translated from the bench to the bedside, and under this CORT proposal we seek to accelerate this translational process. Project 1 (PI, Paul Martin, PhD) seeks extend a therapy now entering trials in DMD to other forms of muscular dystrophy by applying the overexpression of Galgt2, an enzyme that alters skeletal muscle glycosylation, to boost the expression of proteins that ameliorate disease. Project 2 (PI, Scott Harper, PhD) explores novel approaches to modulating the expression of the DUX4 gene to treat the relatively common and debilitating FSHD. Project 3 (PI, Kevin Flanigan, MD) seeks to rapidly translate a newly discovered mechanism for dystrophin translational control into meaningful therapy for boys with DMD. The role of the Administrative Core will be to (1) facilitate scientific integration among these three projects; (2) oversee the budgetary and reporting aspects of the CORT; (3) develop and organize the Advisory Board's efforts; and (4) cultivate or identify pilot and feasibility projects for submission to the NIAMS for funding consideration. On a broader level, the Administrative Core will be responsible for maximizing the synergy between this CORT and other existing translational efforts at RINCH, and at the Ohio State University.