To improve the diagnosis of limb-girdle muscular dystrophy using new genetic techniques of DNA sequencing known as next generation sequencing

使用新的 DNA 测序遗传技术（称为下一代测序）改善肢带型肌营养不良症的诊断

• 批准号: nhmrc : 1074954
• 负责人: Dr Roula Ghaoui
• 金额: $ 6.8万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: Postgraduate Scholarships
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/improve-diagnosis-limb-generation-sequencing/455638
• 关键词: improve; diagnosis; limb; girdle; muscular

Diagnosis of Limb-girdle muscular dystrophy (LMGD) is complex with only about 50% success rate. New technology, Next Generation Sequencing (NGS) can identify a diagnosis substantially quicker and cheaper than standard methods, however is only available in research. The results of this study will form a core resource that can be augmented in the future to identify rarer forms of LGMD, so that all patients can be provided with a genetic diagnosis.

肢带型肌营养不良症(LMGD)的诊断是复杂的，只有大约50%的成功率。新技术，下一代测序(NGS)可以比标准方法更快、更便宜地识别诊断，但只有在研究中才能获得。这项研究的结果将形成一个核心资源，未来可以扩大到识别更罕见的LGMD形式，以便为所有患者提供基因诊断。