罕见病的基因治疗应用与展望

Application and prospect of gene therapy for rare diseases

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-Cas 9为代表的基因编辑技术在罕见病中的应用及发展。

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-Cas 9 in rare diseases.