中国国家罕见病注册系统及其队列研究：愿景与实施路线

The national rare diseases registry system of China and the related cohorts studies： vision and roadmap

罕见病是当今医学重大瓶颈问题，其研究具有独特的科学、社会学、伦理学价值。结合临床表型与组学信息的创新诊断方法可以实现某些罕见病的早期诊断和干预，有效改善疾病预后。罕见病研究对新药研发也起到支撑作用，在解释药物作用机制、发现常见疾病治疗靶点、探索创新性治疗方法、推动制药产业发展上均具有重要意义。由于罕见病患病率低且随访困难，病例注册登记系统及大型队列的建立对罕见病的临床服务和研究至关重要。中国国家罕见病注册系统及其队列研究将为此提供关键支持。全国20余家研究单位将合作建立首个国家罕见病注册登记系统，开展超过50种、不少于5万例罕见疾病的注册登记，整合临床信息及生物组学信息，并在此基础上开展大型队列研究。本项目将首次获得中国人群特异性的罕见病基本信息，为罕见病相关政策制定提供依据，系统性阐释中国人群疾病发病机制，提高罕见病诊疗总体水平，助力新药研发，推动相关健康产业进一步发展。国家罕见病注册系统及其相关队列研究的建立将极大地推动我国罕见病及精准医学研究跨越式进入国际先进行列，是健康中国建设的重要战略实践。

Rare diseases are one of the major challenges we face today in the era of precision medicine, because of the low incidence and prevalence, difficulty in diagnosis, lack of sufficient therapeutic methods, as well as their significant impacts on affected individuals, families and the society. Integration of clinical phenotypic and biological omics data and the further analysis are providing a way to illustrate the mechanisms of rare diseases, discovering novel diagnostic and prognostic biomarkers, developing orphan drugs and other therapeutics, and improving clinical outcomes and quality of life for the patients. A nation-wide registry system and the cohorts studies based on the registry are vital to the research of rare diseases. National Rare Diseases Registry System （NRDRS） of China will provide this essential platform to promote the rare diseases research in China. With the collaboration of 20 leading medical institutes and innovation in medical informatics technologies, this system will, for the first time in China, collect the epidemiological, clinical, socio-economical, genomics and metabolomics data of more than 50 rare diseases and not less than 50 000 cases. As a national strategy for enhancing the development of medical sciences and the improvement of population health in China, NRDRS and its cohort studies will provide the pivotal support to policy making, clinical care, novel drug discovery, patient advocacy, and finally scientific progress in the field of rare diseases.