Discovering Genes for X-linked Charcot-Marie-Tooth Neuropathy

发现 X 连锁腓骨肌神经病的基因

• 批准号: nhmrc : 1007705
• 负责人: A/Pr Marina Kennerson
• 金额: $ 32.46万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/discovering-genes-x-tooth-neuropathy/109242
• 关键词: Discovering; Genes; linked; Charcot; Marie

Our goal is to explore peripheral nerve degeneration by identifying the genes causing X-linked forms of Charcot-Marie-Tooth neuropathy. Using bioinformatic resources, next generation sequencing and state of-the-art microarray and mutation scannning technologies we will perform comprehensive systematic analysis of candidate genes on the X chromosome. Discovery of genes for this subset of inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies.

我们的目标是通过鉴定导致X连锁型腓骨肌萎缩性侧索硬化性神经病的基因来探索周围神经变性。利用生物信息学资源，下一代测序和最先进的微阵列和突变扫描技术，我们将对X染色体上的候选基因进行全面系统的分析。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。