The identification of novel genetic loci and pathways associated with ALS through interrogation of multiple integrated genomics data sets

通过询问多个整合的基因组数据集来识别与 ALS 相关的新基因位点和途径

• 批准号: nhmrc : 1121962
• 金额: $ 21.75万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-novel-genetic-genomics-sets/946843
• 关键词: identification; novel; genetic; loci; pathways

In 85% of amyotrophic lateral sclerosis (ALS) cases the causative mutation is not known. Here, we will use novel genomics and molecular methods to improve diagnosis and enhance the understanding of severe neuronal degeneration. This includes the characterisation of patient neurons to fast-track genetic discovery with patient-specific treatment assays. We envisage an expanded diagnostic and treatment suite that will provide answers for all ALS patients for whom there is no known genetic cause.

在85%的肌萎缩侧索硬化症(ALS)病例中，致病突变未知。在这里，我们将使用新的基因组学和分子方法来改进诊断和提高对严重神经元变性的理解。这包括对患者神经元的表征，以通过患者特定的治疗分析来快速追踪基因发现。我们设想了一个扩展的诊断和治疗套件，将为所有没有已知遗传原因的ALS患者提供答案。