Gene discovery and pathobiology in muscle diseases

肌肉疾病的基因发现和病理生物学

• 批准号: nhmrc : 1122952
• 负责人: Dr Gianina Ravenscroft
• 金额: $ 29.06万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: Career Development Fellowships
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/gene-discovery-pathobiology-muscle-diseases/947056
• 关键词: Gene; discovery; pathobiology; muscle; diseases

I aim to find the genetic causes of muscle diseases that are lethal or severely debilitating. These diseases result in a significant burden to the affected individuals and their families and also on Australia’s Health care system. A genetic diagnosis provides families with answers, allows family planning, such that couples do not have another affected child, enables appropriate clinical management and gives researchers evidence as to how to develop treatments.

我的目标是找到致命或严重使人衰弱的肌肉疾病的遗传原因。这些疾病给受影响的个人及其家庭以及澳大利亚的医疗保健系统造成了沉重的负担。基因诊断为家庭提供了答案，允许计划生育，这样夫妇就不会有另一个受影响的孩子，使适当的临床管理成为可能，并为研究人员提供了如何开发治疗方法的证据。