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摘要: 罕见病是人类社会发展的沉重负担, 对罕见病进行深入研究具有重要的社会意义和科学价值。中国人口基数巨大, 为罕见病研究提供了广阔资源, 同时也带来了巨大挑战。既往中国在罕见病领域取得了众多成就, 同时也面临着研究力量分散、资源整合缺乏等问题。随着政府部门、学术机构、研究团体及个人对罕见病研究的重视及参与, 中国罕见病研究正朝着协作、创新方向发展。未来的中国罕见病研究将从多个方面推进, 为中国及世界应对罕见病挑战作出贡献。Abstract: Since rare diseases contribute to a heavy socio-economic burden globally, research into rare diseases will provide enormous social and scientific values. China has a large population, which provides abundant resources, as well as immense challenges, for studying rare diseases. Although advances in specific diseases have been made, lacking of research collaboration and imbalance in allocation of healthcare resources remain as significant challenges in China. With the growing attention towards rare diseases from the government, academic institutions, research societies, and individuals, it is anticipated that research of rare diseases in China will be under swift development with collaboration and innovation. Efforts in various aspects have been made nationally and globally to better meet the challenges of rare diseases.
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Key words:
- rare diseases /
- China /
- National Rare Diseases Registry System /
- collaboration /
- innovation
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[1] Regulation (Ec) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on Orphan Medicinal Products[J]. OJEC, 2000, 43: 1-5. [2] Rare Diseases Act of 2002[Z]. US Congress, 2002. [3] Boycott KM, Vanstone MR, Bulman DE, et al. Rare-disease genetics in the era of next-generation sequencing:discovery to translation[J]. Nat Rev Genet, 2013, 14:681-691. https://pubmed.ncbi.nlm.nih.gov/23999272/ [4] Therapeutic Goods Regulations 1990[Z]. 1990. [5] Japan pharmaceutical manufacturers association information on Japanese regulatory affairs[R].2017. http://www.phar-mexcil.org/v1/docs/Japan_pharmaceutical_Administration.pdf. [6] Orphanet. Rare disease registries in Europe[R]. 2017. https://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf. [7] Boycott KM, Rath A, Chong JX, et al. International cooperation to enable the diagnosis of all rare genetic diseases[J]. Am J Hum Genet, 2017, 100:695-705. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=902cc323b777606fa160ead32b08ab8f [8] U.S. Food & Drug Administration. 2016 Novel drugs summary[R]. 2017. https://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM536693.pdf. [9] Evaluate Pharma. Evaluate Pharma Orphan Drug Report 2017[R]. 2017. http://info.evaluategroup.com/rs/607-YGS-364/images/EPOD17.pdf. [10] Wu N, Ming X, Xiao J, et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis[J]. N Engl J Med, 2015, 372:341-350. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=7e5de689862b44da782b01d6efd1261c [11] Sun L, Zhao L, Du L, et al. Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis[J]. Bone Res, 2016, 4:16038. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=gyj-e201604005 [12] Wu W, Lu CX, Wang YN, et al. Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein c (Mybpc3) gene mutations tested by next-generation sequencing[J]. J Am Heart Assoc, 2015, 4:e001879. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608072/ [13] Ding F, Wickman L, Wang SQ, et al. Accelerated podocyte detachment and progressive podocyte loss from glomeruli with age in Alport Syndrome[J]. Kidney Int, 2017.doi: 10.1016/j.kint.2017.0.017.[Epub ahead of print]. [14] Hou Y, Yang J, Luo C, et al. Patterns of striatal functional connectivity differ in early and late onset Parkinson's disease[J]. J Neurol, 2016, 263:1993-2003. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=a70d0c422b07dfcb9cde6fcd17648395 [15] Wu WH, Yang L, Peng FH, et al. Lower socioeconomic status is associated with worse outcomes in pulmonary arterial hypertension[J]. Am J Respir Crit Care Med, 2013, 187:303-310. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=78e5ee7a171b3223699d9a0339a56613 [16] Xu KF, Lo BH. Lymphangioleiomyomatosis:differential diagnosis and optimal management[J]. Ther Clin Risk Manag, 2014, 10:691-700. doi: 10.2147/TCRM.S50784 [17] 中共中央办公厅, 国务院办公厅.《关于深化审评审批制度改革鼓励药品医疗器械创新的意见》[Z]. 2017. [18] 冯时, 弓孟春, 张抒扬.中国国家罕见病注册系统及其队列研究:愿景与实施路线[J].中华内分泌代谢杂志, 2016, 32:977-982. http://d.wanfangdata.com.cn/periodical/zhnfmdx201612001 [19] 肖磊.患者组织在罕见病和孤儿药研发中的作用[J].国际药学研究杂志, 2017, 2:209-214. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=gwyx-yxfc201702022 [20] FDA approval brings first gene therapy to the United States[N]. 2017. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm574058.htm. [21] Humphrey M. FDA Consider Approval of US Gene Therapy[N]. 2017. http://www.frontlinegenomics.com/news/13504/fda-consider-approval-of-us-gene-therapy/. -
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