Diagnosing hereditary myopathies and dystrophies with RNA sequencing: translating research innovations into diagnostic practice

通过 RNA 测序诊断遗传性肌病和营养不良：将研究创新转化为诊断实践

• 批准号: nhmrc : 1194633
• 金额: $ 27.97万
• 依托单位国家: 澳大利亚
• 项目类别: Investigator Grants
• 财政年份: 2021
• 资助国家: 澳大利亚
• 起止时间: 2021-01-01 至 2025-12-31
• 项目状态: 未结题
• 来源: https://researchdata.edu.au/diagnosing-hereditary-myopathies-diagnostic-practice/1778841
• 关键词: Diagnosing; hereditary; myopathies; dystrophies; RNA

Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.

尽管基因检测最近取得了进展，但超过 50% 的遗传性神经肌肉疾病患者仍未得到诊断。该项目旨在将另一种最新形式的下一代测序（NGS）测试策略（称为转录组或RNA测序）应用于临床实践，以进一步调查尽管进行了WES和WGS但仍未确诊的患者。