罕见病基因治疗的研究进展  

Gene therapy in the neighborhood of rare diseases:research advances

作　　者：闵浩巍 王飞 姜召芸 孙丰龙 林彦妮 弓孟春[3] 史文钊 张抒扬[3] 

机构地区：[1]神州数码医疗信息股份有限公司,北京100080 [2]苏州克睿基因生物科技有限公司,苏州215123 [3]中国医学科学院北京协和医学院,北京协和医院,北京100037

出　　处：《国际药学研究杂志》2017年第2期123-126,共4页Journal of International Pharmaceutical Research

基　　金：国家重点研发计划精准医学研究重点专项“罕见病临床队列研究”资助项目(2016YFC0901500);国家高技术研究发展计划(863计划)资助项目(2015AA020106)

摘　　要：罕见病因发病率低,治疗药物的市场需求低,导致其治疗药物的研发成本过高,相关治疗策略进展缓慢。近年来,随着分子生物学技术的发展和精准医疗概念的提出,基因治疗技术在遗传性罕见病的研究中取得了重大进展,其研究成果在罕见病的临床诊断、药物研发和治疗中发挥着重要作用,为彻底治愈疾病提供了可能。本文综述了基因治疗的主要原理、策略和在罕见病中的潜在应用,重点介绍了基因编辑技术在罕见病治疗中的优势,并总结了近年来基因治疗相关的临床试验,为基因治疗在罕见病精准医疗领域的研究和应用提供参考。Due to the low incidence of rare diseases and the weak market demand for the therapeutic drugs,the development of a rare disease treatment drug has been blocked because of the expensive cost. In recent years,with the development of molecular biology technology and precision medical concept,gene therapy technology in hereditary rare disease research has made significant progress,and its research had been played an important role in many regions such as clinical diagnosis,drug development and treatment of rare diseases. Gene therapy can make it possible for patients to completely cure the diseases. This article reviews the main mechanisms,strategies and applications of gene therapy researches in rare diseases. The advantages of gene editing technology in the treatment of rare diseases are introduced,and the delivery system of gene therapy drugs in vivo is analyzed. The progress of gene therapy in clinical research of rare disease is summarized,which sheds light on the research and application of the gene therapy in the precise medicine field of the rare disease.

关 键 词：基因治疗 罕见病 基因编辑 药物递送系统 

分 类 号：R450[医药卫生—治疗学]