Identifying novel gene mutations for molecular diagnosis of Familial Hemiplegic Migraine

该建议旨在通过对209个FHM患者样本的整个外显子组进行NGS筛选来鉴定新的FHM基因。我们将通过在人类细胞模型中的功能分析和使用患者特异性干细胞技术来测试检测到的新突变的病理相关性。使用全基因组NGS技术来鉴定新的突变将有助于设计和开发一种全面的NGS方法来诊断和区分这种严重的神经系统疾病。

This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.