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，但却是毁灭性的，它会影响儿童的行走能力或进行日常生活活动的能力，而且许多会限制儿童的生活。了解缺陷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，并为肌肉、心脏和脑损伤提供新的治疗方法。

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.