UNITED DYSTROPHINOPATHY PROJECT

联合肌营养不良项目

• 批准号: 7604884
• 负责人: Katherine Dianne Mathews
• 金额: $ 0.16万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604884
• 关键词: Affect; Becker Muscular Dystrophy; Clinical; Code; Computer Retrieval of Information on Scientific Projects Database; Data; Disease; Duchenne muscular dystrophy; Dystrophin; Funding; Genes; Genetic; Genetic Polymorphism; Genetic Variation; Grant; Institution; Methodology; Methods; Muscular Dystrophies; Mutation; Natural History; Nucleic Acid Regulatory Sequences; Patients; Research; Research Personnel; Research Project Grants; Resources; Sequence Analysis; Severities; Severity of illness; Source; Symptoms; United States National Institutes of Health; Variant; cohort

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The United Dystrophinopathy Project (UPD) is a research project directed toward understanding how variations in the dystrophin gene affect the clinical symptoms of Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked cardiomopathy (the dystrophinopathies). These investigators have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows them to determine whether variations in the gene which are not known to be disease-causing (called "polymorphisms") have some influence on the severity or course of the disease. Using this methodology, they will identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, they will gather longitudinal natural history data, via a standardized and thorough phenotypic characterization obtained by (1) performing standardized clinical examinations, and (2) obtaining a standardized set of historical information. By correlating the genetic variation with severity of disease, they hope to gain a better understanding of how genetic mechanisms influence the disease.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 联合肌营养不良症项目 (UPD) 是一个研究项目，旨在了解肌营养不良蛋白基因的变异如何影响杜氏肌营养不良症 (DMD)、贝克尔肌营养不良症 (BMD) 和 X 连锁心肌病（肌营养不良症）的临床症状。 这些研究人员开发了一种方法，可以快速、稳健且经济地对肌营养不良蛋白基因的整个编码区和调控区进行直接序列分析，极大地加快了许多肌营养不良蛋白病患者突变的表征。 此外，这种直接序列分析使他们能够确定未知致病基因的变异（称为“多态性”）是否对疾病的严重程度或病程有一定影响。 使用这种方法，他们将在一大群患者中识别导致 DMD 和 BMD 的突变。 从同一队列中，他们将通过标准化和彻底的表型特征收集纵向自然历史数据，这些表型特征通过以下方式获得：（1）进行标准化临床检查，以及（2）获得一组标准化的历史信息。 通过将遗传变异与疾病的严重程度联系起来，他们希望更好地了解遗传机制如何影响疾病。