报告题目：大数据与精神病：DISC1通路的遗传变异分析

报 告 人： 滕绍雷

报告时间：2017年5月19日（周五）17:00

报告地点：逸夫楼C座314会议室

摘要：

Psychiatric disorders, including schizophrenia, bipolar disorder and major depression, are important global public health issue. The pathogenic causes of these diseases are largely unknown, and understanding the genetic mechanisms is a research priority. Disrupted in schizophrenia 1 (DISC1) gene is a convincing candidate gene for developing mental diseases. The molecular studies have shown that DISC1 functions as scaffold protein in neuronal development through a large set of pathway genes. We applied targeted sequencing to sequence 213 DISC1 pathway genes in 1543 subjects. We observed an enrichment of rare disruptive variants in schizophrenia patients, and the increased burden of damaging mutations could reduce cognitive measures. We used sequence-based machine learning methods to predict the effects of the rare disease-causing mutations on protein function, protein stability and post translational modification. We utilized structure-based modelling methods to analyze the effects of mutations on protein stability and protein-protein interaction. We showed that the rare missense mutations could significantly affect the protein structures and functions. The findings could improve our understanding of the relationship between genotype and phenotype underlying mental illness, and could help biomedical scientists to develop the better diagnostic and treatments for these psychiatric disorders.

报告人简介：

滕绍雷，博士，美国霍华德老员工物系助理教授（终身教职轨制）。滕博士于2004年获得苏州老员工物技术学士学位，2006年获得韩国国立庆尚大学分子生物学硕士学，他于2011年获得美国克莱姆森老员工物化学博士学位。攻读学位期间多次获得国家政府及学校奖学金。2011-2015年在美国冷泉港实验室从事生物信息学博士后工作（师从基因组中心主任W. Richard McCombie教授）。滕博士迄今共发表论文和专著20余篇，以第一作者和通讯作者身份在国际顶级专业期刊Molecular Psychiatry，Amino Acids，BMC Genomics，Biophysical Journal等发表论文13篇。担任Journal of Genomics and Bioinformatics，Bioinformatics and Biology Insights等国际期刊编委，并参与Bioinformatics，Scientific Report，Journal of Molecular Biology等期刊的论文评审工作。Sigma Xi科学研究学会会员。为国内外学术会议邀请报告多次，并参与组织多个国际学术会议。承担Bioinformatics, Senior Seminar, Topics in Cell and Molecular Biology等多门研究生和本科生课程的教学任务，并指导数十位本科生和博士生的科研工作。滕博士主要从事生物信息学研究与其在神经系统疾病的应用。研究方向包括下一代测序技术发现精神疾病基因组变异；机器学习方法预测基因和蛋白质功能； 蛋白质结构建模分析复杂疾病突变。