罕见病基因治疗与孤儿药

孤儿药因面向的罕见病患者群小、市场需求低、研发成本高、缺乏政策支持等，其发展面临困境。随着精准医疗概念的提出，基 因治疗因能够从根本出发，给患者提供 “一劳永逸”的治疗，备受关注。基因治疗以单基因罕见病的治疗作为极佳切入点，为孤儿药的 研发带来了新的希望。概述基因治疗针对的疾病对象、实施策略和属性以及基因药物的结构及基因治疗的载体，以血友病的基因治疗为 例回顾罕见病基因治疗的发展，并分析罕见病基因治疗药物研发现状。

Gene Therapy for Rare Diseases and Orphan Drugs

The development of orphan drugs is hindered by limited patient number, low market demand, high R&D cost, lack of policy support, etc. Based on the concept of precision medicine, gene therapy addresses the root cause of rare diseases and provides patients with a cure once and for all, thus attracting much attention. The treatment of rare single-gene disorders is an excellent entry point in gene therapy, which brings a new hope for the development of orphan drugs. Here the disease targets, treatment strategies and property of gene therapy as well as the structure of gene drugs and gene therapy vectors were summarized, the development of gene therapy for rare diseases was reviewed with the example of gene therapy for hemophilia, and the present situation of R&D on gene therapy drugs for rare diseases was analyzed.