Repeat expansions in neurological disease: discovery, interpretation and enhanced diagnostics

神经系统疾病的重复扩展：发现、解释和增强诊断

• 批准号: nhmrc : 2001513
• 金额: $ 88.99万
• 依托单位国家: 澳大利亚
• 项目类别: Ideas Grants
• 财政年份: 2021
• 资助国家: 澳大利亚
• 起止时间: 2021-01-01 至 2023-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/repeat-expansions-neurological-enhanced-diagnostics/1779789
• 关键词: Repeat; expansions; neurological; disease; discovery

Identifying the mutation or genetic cause of disease in an individual is the first step in the provision of appropriate clinical care and treatment. This diagnostic process is being revolutionised through the ability to sequence the entire human genome in a time and cost effective manner. This project will enable identification of novel and known repeat expansion using whole genome sequencing, providing rapid diagnoses and better clinical care for individuals with neurogenetic disorders.

确定个体的突变或遗传病因是提供适当临床护理和治疗的第一步。这种诊断过程正在通过以时间和成本有效的方式对整个人类基因组进行测序的能力而发生革命性变化。该项目将利用全基因组测序鉴定新的和已知的重复扩增，为神经遗传性疾病患者提供快速诊断和更好的临床护理。