罕见病的基因治疗应用与展望

doi:10.3969/j.issn.1000-3606.2020.10.018

临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (10): 794-.doi: 10.3969/j.issn.1000-3606.2020.10.018

罕见病的基因治疗应用与展望

桂怡婷，李强，桂永浩

复旦大学附属儿科医院（上海 201102）

出版日期:2020-10-15 发布日期:2020-10-10

Application and prospect of gene therapy for rare diseases

GUI Yiting, LI Qiang, GUI Yonghao

Children’s Hospital of Fudan University, Shanghai 201102, China

Online:2020-10-15 Published:2020-10-10

摘要/Abstract

摘要： 罕见病发病率极低、但大多病情严重且好发于儿童时期，多由遗传变异所引起。因患者数少、市场需求低，罕见病药物的研发成本极高，有药可治的罕见病仅不足1%。随着基因诊断技术进步，基因治疗凭借其“一次性彻底治愈”的特点，为遗传性罕见病患者带来了希望。本文介绍罕见病的基因治疗现状，论述传统基因递送技术和以CRISPR-Cas9为代表的基因编辑技术在罕见病中的应用及发展。

关键词: 罕见病；基因治疗；基因递送技术；? CRISPR-Cas9基因编辑技术

Abstract: The?incidence?of?rare?diseases?is?extremely?low,?but?most?of?them?are?serious?and?tend?to?occur?in?childhood.? Mostly?they?are?caused?by?genetic?mutations.?Due?to?the?small?number?of?patients?and?low?market?demand,?the?research?and? development?cost?of?rare?disease?drugs?is?very?high,?and?only?less?than?1%?of?rare?diseases?have?drugs?available?for?treatment.? With?the?advancement?of?genetic?diagnosis?technology,?gene?therapy?by?virtue?of?its?"one-time?complete?cure"?feature?has? brought?hope?to?patients?with?hereditary?rare?diseases.?This?article?reviews?the?current?status?of?gene?therapy?for?rare?diseases,?and? discusses?the?application?and?development?of?traditional?gene?delivery?technologies?and?gene?editing?technologies?represented?by? CRISPR-Cas9?in?rare?diseases.

Key words: rare?disease;? gene?therapy;? gene?delivery?technology;? CRISPR-Cas9?gene?editing?technology

桂怡婷，李强，桂永浩. 罕见病的基因治疗应用与展望[J]. 临床儿科杂志, 2020, 38(10): 794-.

GUI Yiting, LI Qiang, GUI Yonghao. Application and prospect of gene therapy for rare diseases[J]. Journal of Clinical Pediatrics, 2020, 38(10): 794-.

罕见病的基因治疗应用与展望

Application and prospect of gene therapy for rare diseases

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