Gene Identification for Inherited Peripheral Neuropathies by applying Next Generation Sequencing

应用下一代测序技术鉴定遗传性周围神经病的基因

• 批准号: nhmrc : 1046680
• 负责人: A/Pr Marina Kennerson
• 金额: $ 40.35万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/gene-identification-inherited-generation-sequencing/111860
• 关键词: Gene; Identification; Inherited; Peripheral; Neuropathies

Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to prevent the death of motor and sensory nerves.

我们的目标是通过鉴定导致腓骨肌萎缩症（CMT）神经病变的新基因来研究运动和感觉神经死亡的生物学基础。利用大规模平行测序，我们将系统地分析CMT家族基因组中新的DNA变化，其中潜在的基因突变是未知的。发现遗传性周围神经病变的基因将阐明导致神经退行性变的机制，并导致有针对性的治疗策略，以防止运动和感觉神经的死亡。