Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (7): 697-700.DOI: 10.11852/zgetbjzz2021-0965

• Professional Forum •     Next Articles

Genome editing and inherited metabolic disease

LUO Xiao-ping, YING Yan-qin   

  1. Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China
  • Received:2020-05-30 Revised:2021-06-18 Online:2021-07-10 Published:2021-07-28


罗小平, 应艳琴   

  1. 华中科技大学同济医学院附属同济医院儿科学系,湖北 武汉 430030
  • 作者简介:罗小平(1964-),男,主任医师,博士生导师,主要研究方向为儿童内分泌、遗传代谢病学、围产新生儿医学。
  • 基金资助:
    国家重点研发计划“生殖健康及重大出生缺陷防控研究”重点专项(2018YFC1002400);湖北省科技重大专项(ZDZX2020000020 )

Abstract: With the development and popularization of the newborn screening and second-generation sequencing techniques, more and more patients with inherited disorders were diagnosed in their early stage. For such patients, the treatment is quite limited. However, the gene therapy has been proved to be a great option to correct the mutation directly via transferring DNA to their cells. Gene editing techniques have advantages and disadvantages in their application, and related ethical issues should be strictly followed.

Key words: inherited metabolic disease, genome editing technology, medical ethical issues

摘要: 随着新生儿遗传代谢病筛查和二代基因测序技术的逐渐普及,越来越多的遗传代谢病在早期得到诊断。大多遗传代谢病治疗手段非常有限,基因治疗通过外源DNA序列导入,可能使遗传代谢病从基因水平彻底根治。各种基因编辑技术在遗传代谢病领域的应用均具有其优势与不足。在基因编辑技术的临床应用中需严格遵循相关的伦理制度。

关键词: 遗传代谢病, 基因编辑技术, 医学伦理

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