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

将基因组医学创新转化为罕见神经肌肉疾病家庭的诊断和治疗。

• 批准号: nhmrc : GNT1136197
• 负责人: A/Pr Sandra Cooper
• 金额: $ 64.02万
• 依托单位国家: 澳大利亚
• 项目类别: Research Fellowships
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/translating-innovations-genomic-neuromuscular-disorders/1348036
• 关键词: Translating; innovations; Genomic; Medicine; diagnosis

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.

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。