Administrative Core

行政核心： 摘要 国立儿童医院研究所基因治疗中心 （RINCH）有一个专门的翻译计划，目标是肌营养不良症， 特别是对开发针对最常见形式的有意义的疗法的长期兴趣， 包括杜氏肌营养不良症（DMD）和面肩肱肌营养不良症 （FSHD）。我们中心的目标包括揭示疾病的发病机制和开发新的 治疗范例，可以从板凳翻译到床边，并在此 CORT建议我们寻求加速这一转化过程。 项目1（PI，Paul Martin，PhD）寻求将目前正在DMD中进行试验的疗法扩展到其他 通过应用Galgt 2的过度表达，一种改变肌营养不良症形式的酶， 骨骼肌糖基化，以促进改善疾病的蛋白质的表达。 项目2（PI，Scott哈珀，PhD）探索调节以下表达的新方法： DUX 4基因来治疗相对常见和衰弱的FSHD。项目3（PI，Kevin Flanigan，MD）寻求快速翻译一个新发现的肌营养不良蛋白的机制， 翻译控制转化为有意义的治疗DMD男孩。 行政核心的作用将是：（1）促进这些领域的科学整合 （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;（4）培养或确定试点和可行性项目， 向NIAMS提交供资考虑。在更广泛的层面上，行政核心 将负责最大限度地发挥CORT和其他现有 在RINCH和俄亥俄州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.