Literature DB >> 25343065

Rare diseases research in China: Opportunities, challenges, and solutions.

Jinxiang Han1, Yazhou Cui1, Xiaoyan Zhou1.   

Abstract

Rare diseases research in China can be traced back to the 1980s. Currently, control of rare diseases has become a national concern. This paper describes developments concerning rare diseases in China with regard to epidemiology, case registration, basic research, establishment of medical networks, and orphan drugs. A national program for rare disease research is being implemented in China to promote international cooperation in the future.

Keywords:  China; Rare disease; development; epidemiology

Year:  2012        PMID： 25343065      PMCID： PMC4204592          DOI： 10.5582/irdr.2012.v1.1.10

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN： 2186-3644


  9 in total

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4.  China's first rare-disease registry is under development.

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7.  Genomewide association study of leprosy.

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Journal:  PLoS Genet       Date:  2011-06-09       Impact factor: 5.917
  9 in total
  7 in total

1.  Study and analysis of the state of rare disease research in Shandong Province, China.

Authors:  Heng Zhao; Yazhou Cui; Xiaoyan Zhou; Jingxiang Pang; Xiumei Zhang; Shuangqing Xu; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2012-11

2.  Defining rare diseases in China.

Authors:  Yazhou Cui; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2017-05

Review 3.  Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.

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Review 4.  Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities.

Authors:  Xiaowei Jin; Li Chen
Journal:  Intractable Rare Dis Res       Date:  2015-02

5.  Physicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China.

Authors:  Huanyu Zhang; Ying Xiao; Shu-Yang Zhang; Dong Dong; Xinyue Zhao; Zhuang Tian
Journal:  Orphanet J Rare Dis       Date:  2022-03-05       Impact factor: 4.123

Review 6.  A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Authors:  Yazhou Cui; Heng Zhao; Zhenxing Liu; Chao Liu; Jing Luan; Xiaoyan Zhou; Jinxiang Han
Journal:  Orphanet J Rare Dis       Date:  2012-08-22       Impact factor: 4.123

7.  China launched a pilot project to improve its rare disease healthcare levels.

Authors:  Yazhou Cui; Xiaoyan Zhou; Jinxiang Han
Journal:  Orphanet J Rare Dis       Date:  2014-01-27       Impact factor: 4.123
  7 in total

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