Gene discovery and pathobiology in muscle diseases

我的目标是找到致命或严重使人衰弱的肌肉疾病的遗传原因。这些疾病给受影响的个人及其家庭以及澳大利亚的医疗保健系统造成了沉重的负担。基因诊断为家庭提供了答案，允许计划生育，这样夫妇就不会有另一个受影响的孩子，使适当的临床管理成为可能，并为研究人员提供了如何开发治疗方法的证据。

I aim to find the genetic causes of muscle diseases that are lethal or severely debilitating. These diseases result in a significant burden to the affected individuals and their families and also on Australia’s Health care system. A genetic diagnosis provides families with answers, allows family planning, such that couples do not have another affected child, enables appropriate clinical management and gives researchers evidence as to how to develop treatments.