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.

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