遗传 ›› 2017, Vol. 39 ›› Issue (3): 177-188.doi: 10.16288/j.yczz.16-395

• 综述 • 上一篇    下一篇

基因组编辑技术在精准医学中的应用

李爽1(),杨圆圆1,邱艳1,陈彦好1,徐璐薇2,丁秋蓉1   

  1. 1. 中国科学院上海生命科学研究院营养科学研究所,上海 200031
    2. 江苏省泰州市中医院,泰州 225300
  • 收稿日期:2016-11-23 修回日期:2017-01-21 出版日期:2017-03-20 发布日期:2017-02-10
  • 基金资助:
    上海市浦江人才计划项目(15PJ1409200);中国科学院百人计划和国家青年千人计划项目资助

Applications of genome editing tools in precision medicine research

Li Shuang1(),Yang Yuanyuan1,Qiu Yan1,Chen Yanhao1,Xu Luwei2,Ding Qiurong1   

  1. 1. Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Shanghai 200031, China
    2. Taizhou Hospital of Traditional Chinese Medicine, Taizhou 225300, China
  • Received:2016-11-23 Revised:2017-01-21 Online:2017-03-20 Published:2017-02-10
  • Supported by:
    the Shanghai Pujiang Talent Program(15PJ1409200);CAS Hundred Talent Program and the National Young Scientist Thousand Talent Program

摘要:

基因组编辑技术的飞速发展,尤其是近年来CRISPR/Cas9基因组编辑体系的出现,使得研究人员能高效地在细胞系和动物模型中对基因组进行精确编辑。基于基因组编辑技术的各种实验研究平台被相继开发,包括通过在细胞系中引入疾病相关突变位点建立疾病模型,通过高通量筛选寻找导致肿瘤耐药性的突变基因,通过体内原位靶向致病基因并修改突变进行基因治疗等。这些基因组编辑技术研究平台极大推动了精准医学研究领域的发展。本文对基因组编辑技术在精准医学领域的基础研究、转化应用、目前存在的问题以及未来发展的方向进行了讨论。

关键词: CRISPR/Cas9, 干细胞疾病模型, 大规模筛选, 基因治疗

Abstract:

The emergence of genome editing tools, such as the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9) system, has enabled researchers to achieve somatic and germline genomic manipulations in cell lines and model organisms. Within a couple of years, genome editing is now being rapidly developed for multiple applications and widely used in biomedical researches, including creation of disease models with desired genetic mutations, screening in a high-throughput manner for drug resistance genes, and making appropriate editions to genes in vivo for disease treatment. All these applications have been facilitating the development of precision medicine research. In this review, we describe the use of genome editing technologies for a variety of research and translational applications in the precision medicine field. We also highlight some of the existing limitations or challenges as well as future directions.

Key words: CRISPR/Cas9, hPSCs disease modeling, high-throughput screening, gene therapy