协和医学杂志

2018, v.9(01) 5-9

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中国罕见病研究的现状与未来
Research of Rare Diseases in China: from the Past to the Future

徐昊鹏;朱翀;弓孟春;张抒扬;
XU Hao-peng;ZHU Chong;GONG Meng-chun;ZHANG Shu-yang;Clinical Medicine,Chinese Academy of Medical Sciences & Peking Union Medical College;National Rare Diseases Registry System of China;Digital China Health Technologies Co.Ltd.;Rare Diseases Research Center,Chinese Academy of Medical Sciences;Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

摘要(Abstract):

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。
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.

关键词(KeyWords): 罕见病;中国;国家罕见病注册系统;合作;创新
rare diseases;China;National Rare Diseases Registry System;collaboration;innovation

Abstract:

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基金项目(Foundation): 国家重点研发计划(2016YFC0901500)

作者(Author): 徐昊鹏;朱翀;弓孟春;张抒扬;
XU Hao-peng;ZHU Chong;GONG Meng-chun;ZHANG Shu-yang;Clinical Medicine,Chinese Academy of Medical Sciences & Peking Union Medical College;National Rare Diseases Registry System of China;Digital China Health Technologies Co.Ltd.;Rare Diseases Research Center,Chinese Academy of Medical Sciences;Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

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