儿童遗传病病因的探寻者——李巍教授团队

doi:10.3969/j.issn.1006-7795.2020.05.002

摘要/Abstract

摘要： 首都医科大学附属北京儿童医院李巍教授团队利用医学遗传学、基因组学与生物信息学、细胞生物学等多学科前沿研究手段，通过鉴定白化病等儿童遗传病的致病基因，探寻其发病机制，为出生缺陷干预提供新的技术手段和干预方案。

关键词: 多学科交叉, 遗传病, 白化病, 致病基因, 发病机制, 出生缺陷干预

Abstract: Using multidisciplinary state-of-art techniques, Dr. Li Wei's laboratory dedicates to dissecting the disease causative genes of inherited pediatric disorders such as albinism, to investigate the pathogenesis and translate the research into practice of birth defects prevention.

Key words: multidisciplinary research, inherited disorders, albinism, disease causative gene, pathogenesis, intervention of birth defects

中图分类号:

R394

李巍, 郝婵娟. 儿童遗传病病因的探寻者——李巍教授团队[J]. 首都医科大学学报, 2020, 41(5): 730-735.

Li Wei, Hao Chanjuan. Exploring the etiology of pediatric inherited disorders——Dr. Li Wei's Laboratory[J]. Journal of Capital Medical University, 2020, 41(5): 730-735.

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