The national rare diseases registry system of China and the related cohorts studies:vision and roadmap / 中华内分泌代谢杂志

ABSTRACT

[Summary] 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.