Investigating the clinical and research applications of whole-genome sequencing in Parkinson disease and other movement disorders

调查全基因组测序在帕金森病和其他运动障碍中的临床和研究应用

• 批准号: nhmrc : GNT1091551
• 负责人: Dr Kishore Kumar
• 金额: $ 25.86万
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-clinical-research-movement-disorders/1345843
• 关键词: Investigating; clinical; research; applications; whole

There are many ‘movement disorders’ including Parkinson disease, dystonia, and hereditary spastic paraplegia. These disorders can be caused by mutations (errors in the genetic code) in different genes. The discovery of these genes has improved our understanding of the underlying disease mechanisms. We will use ‘whole genome sequencing’ to read a person’s entire genetic material in a single experiment, allowing us to identify a genetic diagnosis and to discover entirely new disease-causing genes.

有许多“运动障碍”，包括帕金森病、肌张力障碍和遗传性痉挛性截瘫。这些疾病可能是由不同基因的突变（遗传密码错误）引起的。这些基因的发现提高了我们对潜在疾病机制的理解。我们将使用“全基因组测序”在一次实验中读取一个人的全部遗传物质，使我们能够确定基因诊断并发现全新的致病基因。