罕见病领域研究现状与趋势分析

doi:10.16288/j.yczz.21-030

遗传 ›› 2021, Vol. 43 ›› Issue (6): 531-544.doi: 10.16288/j.yczz.21-030

罕见病领域研究现状与趋势分析

贺彩红^1,³(), 蒋琬姿²(), 张丽雯¹, 阮梅花¹, 周红文²(), 于建荣^1,³()

1. 中国科学院上海生命科学信息中心,中国科学院上海营养与健康研究所,上海 200031
2. 南京医科大学第一附属医院内分泌科,南京 210029
3. 中国科学院大学,北京 100049

收稿日期:2021-01-25 修回日期:2021-03-01 出版日期:2021-06-20 发布日期:2021-04-20
通讯作者: 周红文,于建荣 E-mail:hecaihong2019@sibs.ac.cn;1995jwz@sina.com;drhongwenzhou@njmu.edu.cn;yjianrong@sibs.ac.cn
作者简介:贺彩红,在读硕士研究生,专业方向:生物情报学。E-mail: hecaihong2019@sibs.ac.cn;|蒋琬姿,在读硕士研究生,专业方向:肥胖、脂代谢和罕见代谢病。E-mail: 1995jwz@sina.com; 贺彩红和蒋琬姿并列第一作者。
基金资助:
国家重点研发计划蛋白质机器与生命过程调控重点专项编号(2018YFA0506904);国家自然科学基金专项项目资助编号(L1924031)

Current status and future perspectives of rare disease research

Caihong He^1,³(), Wanzi Jiang²(), Liwen Zhang¹, Meihua Ruan¹, Hongwen Zhou²(), Jianrong Yu^1,³()

1. Shanghai Information Center for Life Sciences, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China
2. Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029,China
3. Chinese Academy of Sciences, Beijing 100049, China

Received:2021-01-25 Revised:2021-03-01 Online:2021-06-20 Published:2021-04-20
Contact: Zhou Hongwen,Yu Jianrong E-mail:hecaihong2019@sibs.ac.cn;1995jwz@sina.com;drhongwenzhou@njmu.edu.cn;yjianrong@sibs.ac.cn
Supported by:
Supported by the National Key Research and Development Program of China No(2018YFA0506904);the National Natural Science F oundation of China No(L1924031)

摘要/Abstract

摘要：

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。

关键词: 罕见病, 研究现状, 药物研发

Abstract:

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.

Key words: rare diseases, research status, drug development

贺彩红, 蒋琬姿, 张丽雯, 阮梅花, 周红文, 于建荣. 罕见病领域研究现状与趋势分析[J]. 遗传, 2021, 43(6): 531-544.

Caihong He, Wanzi Jiang, Liwen Zhang, Meihua Ruan, Hongwen Zhou, Jianrong Yu. Current status and future perspectives of rare disease research[J]. Hereditas(Beijing), 2021, 43(6): 531-544.

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时间	出台的政策法案
1982年	美国食品药品监督管理局(FDA)设立孤儿药研发办公室
1983年	美国颁布《孤儿药法案》,并于1984年、1985年、1988年、2007年进行了修订
1983年	美国国立卫生研究院成立罕见病研究办公室
1991年	新加坡颁布《罕见病药物特许令》
1993年	日本修改药事法,增加孤儿药的认定标准和受理当局,厚生劳务省制定相关法规,出台《罕见病用药管理制度》
1998年	澳大利亚颁布了《罕见病药物纲要》
1999年	欧盟颁布《欧洲联盟罕见疾病行动方案》
2000年	欧洲医药局(EMA)实施孤儿药法规（Regulation(EC) No 141/2000）,鼓励制药企业开展孤儿药的研究、开发和上市,为欧洲各国孤儿药法规的制定提供关键性的法律框架
2000年	EMA设立孤儿药委员会,对孤儿药采取集中式审评程序进行上市审评审批
2002年	美国《罕见病法案》(Rare Diseases Act)出台

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罕见病领域研究现状与趋势分析

Current status and future perspectives of rare disease research

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