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.
出处
《国际药学研究杂志》
CAS
CSCD
北大核心
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)
作者简介
作者简介：闵浩巍，男，博士，研究方向：精准医学大数据，E—mail：minhw@dcits．com
王飞（共同第一作者），女，博士，研究方向：精准医学大数据，E-mail：wangfeiab@dcits．com
通讯作者：张抒扬，E-mail：shuyangzhang103@163．com,张抒扬，主任医师，教授，北京协和医院副院长兼中国医学科学院北京协和医学院副院校长。中华医学会常务理事、中华医学会内科学分会副主任委员、中华医学会临床药学分会副主任委员、中华医学会心血管病专业委员会委员，中国研究性医院学会罕见病分会会长，北京医学会临床药学分会主任委员，北京医学会心血管病委员会副主任委员，国家“十三五”精准医学研究发展规划中罕见病队列研究首席专家。
