Gene Identification for Inherited Peripheral Neuropathies by applying Next Generation Sequencing

我们的目标是通过识别导致沙科-玛丽-图斯（CMT）神经病的新基因，研究运动和感觉神经死亡的生物学基础。使用大规模平行测序，我们将系统地分析CMT家族中潜在基因突变未知的整个基因组中的新DNA变化。发现导致遗传性周围神经病变的基因将阐明导致神经变性的机制，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。

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.