1 Peking Union Medical College , Beijing, China .
2 National Rare Diseases Registry System of China , Beijing, China .
Hum Gene Ther. 2018 Feb;29(2):128-135. doi: 10.1089/hum.2017.215.
Rare diseases are major challenges in healthcare and medical research and are the basis of national development strategies in many countries. However, inadequate definition of rare diseases and lags in orphan drug development in China hinder rare disease research. In response, the first National Rare Diseases Registry System of China (NRDRS) was established, and various cohort studies have been launched since 2016. More than 20 top academic institutions in China are currently participating in this joint effort to carry out nationwide registration of rare diseases. The primary objectives are to establish standardization for the registration platform, build biobanks of genomic data, and create partnerships for data sharing and research collaboration. Innovative informatics technologies have been implemented to develop the NRDRS, including employment of ontological and knowledge bases to render standardization and support standard of care. Development of informatics analysis tools will facilitate accurate and more efficient diagnoses for rare diseases. Long-term research collaboration is encouraged to create additional national rare disease networks for research translation and to benefit patients with rare diseases. The NRDRS of China and related cohort studies are anticipated to enlighten rare disease research significantly in China.
罕见病是医疗和医学研究中的重大挑战，也是许多国家国家发展战略的基础。然而，中国对罕见病的定义不充分，孤儿药的开发滞后，阻碍了罕见病的研究。为此，中国建立了首个全国罕见病注册系统（NRDRS），并自 2016 年以来开展了各种队列研究。目前，中国 20 多所顶尖学术机构正在参与这一联合努力，对罕见病进行全国范围内的登记。主要目标是为登记平台建立标准化，建立基因组数据的生物库，并建立数据共享和研究合作的伙伴关系。创新性的信息学技术已被用于开发 NRDRS，包括利用本体论和知识库实现标准化和支持护理标准。开发信息学分析工具将有助于对罕见病进行更准确和更有效的诊断。鼓励开展长期的研究合作，为研究转化创建更多的国家罕见病网络，使罕见病患者受益。中国的 NRDRS 及相关队列研究有望为中国的罕见病研究带来重大启示。
