基因组编辑技术在干细胞疾病模型建立和精准医疗中的应用

doi:10.16288/j.yczz.15-239

遗传 ›› 2015, Vol. 37 ›› Issue (10): 983-991.doi: 10.16288/j.yczz.15-239

基因组编辑技术在干细胞疾病模型建立和精准医疗中的应用

韦余达, 李爽, 刘改改, 张永贤, 丁秋蓉

中国科学院上海生命科学研究院营养科学研究所,上海 200031

收稿日期:2015-05-29 出版日期:2015-10-20 发布日期:2015-10-20
通讯作者: 丁秋蓉,博士,研究员,研究方向：干细胞与转化医学。E-mail: qrding@sibs.ac.cn
作者简介:韦余达,硕士研究生,专业方向：干细胞肿瘤疾病模型。E-mail: ydwei@sibs.ac.cn
基金资助:
上海市浦江人才计划(编号：15PJ1409200)资助

Use of genome editing tools in human stem cell-based disease modeling and precision medicine

Yuda Wei， Shuang Li， Gaigai Liu， Yongxian Zhang， Qiurong Ding

Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Shanghai 200031, China

Received:2015-05-29 Online:2015-10-20 Published:2015-10-20

摘要/Abstract

摘要： 精准医疗强调针对不同个体定制个性化治疗方案,其推行需要精准疾病模型的建立。人类干细胞因其具有多能性而成为体外不同类型的成体细胞和器官小体的潜在来源,其强增殖能力保证了充足原材料用于科研分析和大规模药物筛选。基因组编辑技术(尤其是CRISPR/Cas9技术)的快速发展使得在人多能干细胞和成体干细胞中进行高效基因组编辑成为可能。两者的有效结合能建立起针对不同遗传致病背景的“个性化”疾病模型,有利于深入解析不同遗传突变的致病机制和开发高针对性的精准医疗方案。本文对基因组编辑技术在人类干细胞中的应用以及利用干细胞疾病模型模拟罕见病和肿瘤发生的研究进行了综述。

关键词: CRISPR/Cas9技术, 人多能干细胞, 人成体干细胞, 罕见病模型, 肿瘤模型

Abstract: Precision medicine emerges as a new approach that takes into account individual variability. The successful conduct of precision medicine requires the use of precise disease models. Human pluripotent stem cells (hPSCs), as well as adult stem cells, can be differentiated into a variety of human somatic cell types that can be used for research and drug screening. The development of genome editing technology over the past few years, especially the CRISPR/Cas system, has made it feasible to precisely and efficiently edit the genetic background. Therefore, disease modeling by using a combination of human stem cells and genome editing technology has offered a new platform to generate “ personalized ” disease models, which allow the study of the contribution of individual genetic variabilities to disease progression and the development of precise treatments. In this review, recent advances in the use of genome editing in human stem cells and the generation of stem cell models for rare diseases and cancers are discussed.

Key words: CRISPR/Cas9, human pluripotent stem cells, adult stem cells, rare disease modeling, cancer modeling

韦余达, 李爽, 刘改改, 张永贤, 丁秋蓉. 基因组编辑技术在干细胞疾病模型建立和精准医疗中的应用[J]. 遗传, 2015, 37(10): 983-991.

Yuda Wei， Shuang Li， Gaigai Liu， Yongxian Zhang， Qiurong Ding. Use of genome editing tools in human stem cell-based disease modeling and precision medicine[J]. HEREDITAS(Beijing), 2015, 37(10): 983-991.

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基因组编辑技术在干细胞疾病模型建立和精准医疗中的应用

Use of genome editing tools in human stem cell-based disease modeling and precision medicine

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