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

我们的目标是通过识别导致X连锁形式的Charcot-Marie-Tooth神经病的基因来探索周围神经退行性变。利用生物信息学资源、下一代测序以及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。这类遗传性周围神经病变的基因发现将阐明导致神经变性的机制，并导致有针对性的治疗策略。

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.