Translating innovations in Genomic Medicine for diagnosis and treatment for families with rare Neuromuscular disorders.

遗传性神经肌肉疾病是罕见的，但具有破坏性，影响儿童行走或进行日常生活活动的能力，许多是限制生命的。了解有缺陷的基因对家庭至关重要，但通常超出了标准医院诊断的范围。我的研究使用基因组学的最新创新为我们的家庭提供基因诊断，使用细胞和动物模型来阐明疾病是如何发生的，并推进肌肉，心脏和脑损伤的新疗法。

Inherited neuromuscular disorders are rare but devastating, affecting a child’s ability to walk or perform activities of daily living, and many are life-limiting. Knowing the faulty gene is vital for families but is often beyond the scope of standard hospital diagnostics. My research uses the latest innovations in genomics to provide a genetic diagnosis for our families, uses cell and animal models to elucidate how diseases occur, and advances new treatments for muscle, heart and brain injury.