Novel skeletal muscle enriched genes in muscle biology and disease

肌肉生物学和疾病中富含新骨骼肌的基因

• 批准号: nhmrc : 1146321
• 负责人: Dr Gianina Ravenscroft
• 金额: $ 60.04万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/novel-skeletal-muscle-biology-disease/1320631
• 关键词: Novel; skeletal; muscle; enriched; genes

Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.

每年都有数百名澳大利亚人出生时患有遗传性肌肉疾病，然而，目前的方法无法识别约50%患者的致病基因。在这里，我们将使用骨骼肌中的表达模式来优先考虑新的候选致病基因。我们将使用新的实验检测方法对骨骼肌细胞中表达的基因的作用进行功能测试。独特的是，我们将首次将一类新的基因（长非编码RNA）纳入我们的研究。