罕见病领域研究现状与趋势分析

doi:10.16288/j.yczz.21-030

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

• Research Trends • Previous Articles Next Articles

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)

Abstract

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

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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Current status and future perspectives of rare disease research

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