Rare diseases refer to diseases with low incidence. Currently, there are over 8000 rare diseases in the world. Effective prevention and treatment of rare diseases is an important part of 'healthy China'. In this paper, status and drug development of rare diseases were reported. These results indicate that research on rare diseases is growing rapidly driven by technology and policy. The hotspots include the identification of gene mutations, the development of therapies, and the key points of technology include the development of drugs for rare diseases, the development of viral vectors for gene therapy, and the diagnosis and management system for rare diseases. In terms of drug development, 880 drugs have been launched by December 28, 2020, and a large number of drugs are in the pre-clinical stage. Generally, a new technology or drug is applicable to various diseases. In the future, with policy support and the development of emerging technologies such as gene editing, more and more rare diseases will be diagnosed and intervened early, even be cured, and the quality of life of patients is expected to be improved.
罕见病是指发病率极低的疾病。目前全球约有8000多种罕见病。罕见病的有效防治是建设“健康中国”的重要组成部分。本文分析了全球罕见病领域研究态势及药物研发概况。结果表明,受政策和技术推动,罕见病领域研究呈快速增长趋势;研究热点主要包括罕见病突变基因的鉴定与治疗;技术开发重点主要包括罕见病药物研发、基因治疗病毒载体开发、罕见病诊断与管理系统构建;以肌萎缩性侧索硬化和多系统萎缩为代表的神经系统罕见病及以镰状细胞病为代表的血液系统罕见病是重要的研究对象;药物研发方面,截至2020年12月28日,已有880个药物上市,还有大量药物处于临床前阶段。往往一项罕见病技术和药物的开发可推广至多种疾病甚至常见病的治疗。随着政策支持和基因编辑等新兴技术的发展,将有越来越多的罕见病可以实现早诊断、早干预甚至被治愈,患者生活质量有望得到提升。.
Keywords: drug development; rare diseases; research status.