The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet): Component C Dissemination

肌营养不良症监测、跟踪和研究网络 (MD STARnet)：C 部分传播

• 批准号: 10220731
• 负责人: Nedra Sharon Whitehead
• 金额: $ 8万
• 依托单位: RESEARCH TRIANGLE INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10220731
• 关键词: Muscular; Dystrophy; Surveillance; Tracking; Research

Project Summary/Abstract The nine major types of muscular dystrophy are a heterogenous collection of genetic neuromuscular disorders. All nine are characterized by progressive muscle degeneration and weakness, but vary by age of onset, affected muscle groups, involved genes, and rate of disease progression and severity. As part of the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), the Piedmont (central) region of North Carolina has provided a setting for studying eligible muscular dystrophies in a population of over 5.3 million people, including over 1.3 African Americans. We and other participating network sites have demonstrated the value of population-based surveillance of these muscular dystrophies. The collected data represents a rich source of knowledge to be used to improve the lives and care of individuals living with muscular dystrophies. We will to use MD STARnet data to address high-priority questions on the MD STARnet research agenda. The North Carolina MD STARnet team will also collaborate on analysis projects led by other network sites. We will increase understanding of muscular dystrophy through studies of the epidemiology and the genetics of Duchenne and Becker, facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies. We will seek to improve care and health outcomes of individuals with myotonic dystrophy, facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies through studies of respiratory morbidity among myotonic patients and the uptake of genetic testing among facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies. We will serve as secondary analysts on analytic projects led by other states which also address these goals

项目总结/摘要 九种主要类型的肌营养不良症是遗传性神经肌肉疾病的异质性集合。 所有九种都以进行性肌肉退化和无力为特征，但因发病年龄而异， 受影响的肌肉群、相关基因、疾病进展速度和严重程度。作为肌肉的一部分， 营养不良监测、跟踪和研究网络（MD STARnet），皮埃蒙特（中部）地区， 北卡罗来纳州为研究5.3%以上人群中符合条件的肌营养不良症提供了一个环境 100万人，其中包括130多名非洲裔美国人。我们和其他参与的网络站点 证明了基于人群的监测这些肌营养不良症的价值。所收集的数据 代表了丰富的知识来源，可用于改善生活和照顾个人生活与 肌肉萎缩症我们将使用MD STARnet数据来解决MD STARnet上的高优先级问题 研究议程。北卡罗来纳州MD STARnet团队还将在其他研究人员领导的分析项目上进行合作。 网络站点。我们将通过流行病学研究增加对肌营养不良症的了解， Duchenne和Becker的遗传学、面肩肱、先天性、远端、Emery-Dreifuss和肢带 肌肉萎缩症我们将寻求改善肌强直患者的护理和健康结果， 面肩肱肌营养不良、先天性、远端、Emery-Dreifuss和肢带肌营养不良 通过对肌强直患者呼吸道发病率的研究以及对基因检测的采用， 面肩肱型、先天性、远端型、Emery-Dreifuss型和肢带型肌营养不良。我们必定事奉 在其他国家领导的分析项目中担任次要分析员，这些项目也涉及这些目标