Administrative Core

行政核心

基本信息

批准号：
10017011
负责人：
KEVIN M FLANIGAN
金额：
$ 13.84万
依托单位：
RESEARCH INST NATIONWIDE CHILDREN'S HOSP
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-14 至 2022-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10017011
关键词：
Basic Science Clinic Clinical Development Disease Doctor of Philosophy Duchenne muscular dystrophy Dystrophin Enzymes Evaluation Facioscapulohumeral Muscular Dystrophy Funding Genes Goals Innovative Therapy Knowledge Merosin-Deficient Congenital Muscular Dystrophy 1A Mission Muscular Dystrophies Myopathy National Institute of Arthritis and Musculoskeletal and Skin Diseases Ohio Pathogenesis Patients Pediatric Hospitals Principal Investigator Process Quality of life Reporting Research Research Institute Resources Role Skeletal Muscle Translating Translational Research Translations Universities bench to bedside boys effective therapy gene therapy glycosylation human disease improved interest muscle form novel strategies overexpression programs protein expression synergism therapeutic development therapy development type 1a limb girdle muscular dystrophy

项目摘要

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.

行政核心：抽象的全国儿童医院研究所基因治疗中心（RINCH）有一个针对肌营养不良症的专门转化计划，对针对最常见形式开发有意义的疗法有着特别长期的兴趣，包括杜氏肌营养不良症 (DMD) 和面肩肱型肌营养不良症（FSHD）。我们中心的目标包括揭示疾病发病机制和开发新的可以从实验室转移到床边的治疗范例，在此之下我们寻求 CORT 提案来加速这一转化过程。项目 1（PI，Paul Martin 博士）寻求将目前正在 DMD 中进行试验的疗法扩展到其他疾病通过应用 Galgt2 的过度表达来治疗各种形式的肌营养不良症，Galgt2 是一种可以改变骨骼肌糖基化，以增强改善疾病的蛋白质的表达。项目 2（PI，Scott Harper 博士）探索调节表达的新方法 DUX4 基因可治疗相对常见且使人衰弱的 FSHD。项目 3（PI，Kevin Flanigan，医学博士）寻求快速转化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。行政核心的作用是 (1) 促进这些领域之间的科学整合三个项目； (2) 监督 CORT 的预算和报告方面； (3) 开发和组织顾问委员会的工作； (4) 培育或确定试点和可行性项目提交给 NIAMS 供资金考虑。在更广泛的层面上，行政核心将负责最大化该 CORT 与其他现有的协同作用 RINCH 和俄亥俄州立大学的翻译工作。