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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 联合肌营养不良项目（UPD）是一项研究项目，致力于了解肌营养不良蛋白基因的变化如何影响Duchenne肌肉营养不良症（DMD），Becker肌肉营养不良症（BMD）和X-连接心脏疾病的临床症状（DMD）。 这些研究者已经开发了一种方法，可以快速，稳健和经济地对肌营养不良蛋白基因的整个编码和调节区域进行直接序列分析，从而大大加快了许多肿瘤性疾病患者突变的表征。 此外，这种直接的序列分析使他们能够确定基因中未知是引起疾病的变异（称为“多态性”）是否会影响疾病的严重程度或过程。 使用这种方法，他们将确定大量患者队列中负责DMD和BMD的突变。 从同一队列中，他们将通过（1）通过（1）进行标准化的临床检查获得的标准化和彻底的表型表征来收集纵向自然历史数据，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相关联，他们希望更好地了解遗传机制如何影响疾病。