Current status and future perspectives of rare disease research

Caihong He, Wanzi Jiang, Liwen Zhang, Meihua Ruan, Hongwen Zhou, Jianrong Yu

doi:10.16288/j.yczz.21-030

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Hereditas(Beijing) >

2021 , Vol. 43 >Issue 6: 531 - 544

DOI: https://doi.org/10.16288/j.yczz.21-030

Research Trends

Current status and future perspectives of rare disease research

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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 date: 2021-01-25

Revised date: 2021-03-01

Online published: 2021-04-20

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)

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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

Cite this article

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 . DOI: 10.16288/j.yczz.21-030

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