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Open Access 01-12-2015 | Letter to the Editor

Rare genetic disease in China: a call to improve clinical services

Authors: M. Chopra, T. Duan

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

Excerpt

Patients with rare genetic diseases are becoming increasingly recognised worldwide as an important public health challenge. Despite dramatic advances in public medicine and genomic research in China, the needs of the rare disease patient population are far from being met. …

Wang J, Goo J, Yang L, Zhang Y, Sun Z, Zhang Y. Rare Diseases and Legislation in China. Lancet. 2010;377:708–9.CrossRef

Zhang YJ, Wang Y, Li L, Goo JJ, Wang JB. China’s first rare-disease registry is under development. Lancet. 2011;378(9793):769–70.CrossRefPubMed

Gong S, Jin S. Current progress in the management of rare diseases and orphan drugs in China. Intractable Rare Dis Res. 2012;1(2):45–52.PubMedCentralPubMed

Zhao X, Wang P, Tao X, Zhong N. Genetic testing and services in China. J Community Genet. 2013;4:379–90.PubMedCentralCrossRefPubMed

China. Chinese health statistical digest. 2010. Ministry of Health http://www.moh.gov.cn/publicfiles/business/htmlfiles//publicfiles/business/htmlfiles/zwgkzt/ptjnj/year2010/index2010.html. Last accessed March 1st 2015.

Baynam G, Walters M, Claes P, et al. Phenotyping: Targeting genotype’s rich cousin for diagnosis. J Paediatr Child Health. 2015;51:381–6.PubMed

Houle D, Govindaraju DR, Omholt S. Phenomics: the next challenge. Nat rev Genet. 2010;11:855–66.CrossRefPubMed

www.nhfpc.gov.cn/yzy…b2b.shtml-2014-02-14. Last accessed April 22nd2015.

De Vrueh R, Baekelandt ERF, Haan JMH. Priority Medicines for Europe and the World.” A Public Health approach to Innovation” Update on 2004 Background Paper. March 2013. http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf. Accessed 26th April 2015

10.

61 EurodisCare2. Survey of diagnostic delays, 8 diseases, Europe. 2004. http://archive.eurordis.org/article.php3?id_article=454, Last accessed March 13th 2015.

11.

Liu P, Li C, Zeng W, Wang H, Wu H, Lu J, et al. The impact of the major causes of death on life expectancy in China: a 60-year longitudinal study. BMC Public Health. 2014;14:1193. doi:10.1186/1471-2458-14-1193.PubMedCentralCrossRefPubMed

12.

Xu Y, Weifang Z, Yang R, Chaochun Z, Zhengyan Z. Infant mortality and life expectancy in China. Med Sci Monit. 2014;20:379–85.PubMedCentralCrossRefPubMed

Title: Rare genetic disease in China: a call to improve clinical services
Authors: M. Chopra
T. Duan
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0333-7

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