Novel skeletal muscle enriched genes in muscle biology and disease

每年有数百名澳大利亚人出生时就患有遗传性肌肉疾病，然而，目前的方法未能在约50%的患者中识别出致病基因。在这里，我们将使用骨骼肌中的表达模式来优先选择新的候选致病基因。我们将使用新的实验方法从功能上测试在骨骼肌细胞中表达的基因的作用。独一无二的是，我们将首次将一类新的基因(长非编码RNA)纳入我们的研究。

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.