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聚焦中国的罕见病:我们做到了吗?

Focusing on rare diseases in China: are we there yet?

作者信息

Yang Li, Su Chang, Lee Ashley M, Bai Harrison X

机构信息

Department of Neurology, The Second Xiangya Hospital, Central South University, No. 139 Middle Renmin Road, Changsha, Hunan, 410011, PR China.

Department of Bioengineering, University of Pennsylvania, 210S. 33rd street, Suite 240 Skirkanich Hall, Philadelphia, PA, 19104, USA.

出版信息

Orphanet J Rare Dis. 2015 Nov 2;10:142. doi: 10.1186/s13023-015-0361-3.

DOI:10.1186/s13023-015-0361-3
PMID:26525984
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4630904/
Abstract

The Chinese researchers have made significant progress in studying rare diseases in the recent years. From 2000 to 2014, 269 out of 1892 clinically relevant original research papers published on high impact journals by Chinese institutions, and 2678 out of 6040 clinical trials conducted by Chinese institutions and registered at ClinicalTrial.gov are focused on rare diseases. The number of research papers and of clinical trials has shown a steady trend of increase. Creating public databases for rare disease will escalate progress in rare disease and enable multicenter studies.

摘要

近年来,中国研究人员在罕见病研究方面取得了重大进展。2000年至2014年,中国机构在高影响力期刊上发表的1892篇临床相关原创研究论文中,有269篇聚焦于罕见病;在中国机构开展并在ClinicalTrial.gov注册的6040项临床试验中,有2678项聚焦于罕见病。研究论文和临床试验的数量呈稳步增长趋势。创建罕见病公共数据库将加快罕见病研究进展,并推动多中心研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d55/4630904/f5bbe8c79c89/13023_2015_361_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d55/4630904/f5bbe8c79c89/13023_2015_361_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d55/4630904/f5bbe8c79c89/13023_2015_361_Fig1_HTML.jpg

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本文引用的文献

1
The European Genome-phenome Archive of human data consented for biomedical research.欧洲人类数据基因组-表型组存档库,其数据已获用于生物医学研究的同意。
Nat Genet. 2015 Jul;47(7):692-5. doi: 10.1038/ng.3312.
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Rare diseases and legislation in China.中国的罕见病与立法
Lancet. 2010 Feb 27;375(9716):708-9. doi: 10.1016/S0140-6736(10)60240-1.
患者 8 种特定罕见病的医疗服务保障:来自中国医保患者医疗服务利用国家体系的证据。
Orphanet J Rare Dis. 2019 Aug 20;14(1):204. doi: 10.1186/s13023-019-1165-7.
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Rare diseases in China: analysis of 2014-2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals.中国罕见病:96 家三甲医院 281 种罕见病 2014-2015 年住院汇总分析报告
Orphanet J Rare Dis. 2019 Jul 1;14(1):160. doi: 10.1186/s13023-019-1137-y.
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Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.通过下一代测序技术对疑似单基因疾病的婴儿进行临床评估。
Mol Genet Genomic Med. 2019 Jun;7(6):e684. doi: 10.1002/mgg3.684. Epub 2019 Apr 9.
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Trends of Clinical Trials for Drug Development in Rare Diseases.罕见病药物研发的临床试验趋势
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Publication trend, resource utilization, and impact of the US National Cancer Database: A systematic review.美国国家癌症数据库的出版趋势、资源利用及影响:一项系统综述。
Medicine (Baltimore). 2018 Mar;97(9):e9823. doi: 10.1097/MD.0000000000009823.