Gene discovery in motor neuron disease through systems genomics

通过系统基因组学发现运动神经元疾病的基因

• 批准号: nhmrc : 1083187
• 负责人: A/Pr Ian Blair
• 金额: $ 62.61万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/gene-discovery-motor-systems-genomics/518920
• 关键词: Gene; discovery; motor; neuron; disease

Motor neuron disease (MND) is an adult-onset, rapidly progressive neurodegenerative disorder that leads to paralysis and death, typically within 2 to 5 years of first symptoms. More than 85% of cases do not harbour known MND mutations. This proposal exploits genome-wide genetic and epigenetic profiling methods and leverages across multiple existing genomic resources to discover genes and functional pathways that contribute to MND pathogenesis and progression.

运动神经元病（MND）是一种成人发病、进展迅速的神经退行性疾病，通常在首次出现症状后2至5年内导致瘫痪和死亡。85%以上的病例没有已知的MND突变。本研究利用全基因组遗传和表观遗传分析方法，并利用多种现有基因组资源来发现与MND发病和进展有关的基因和功能途径。