中文摘要
白内障是全球第一致盲眼病,类型多、发病机制迥异,手术作为唯一有效治疗手段,远不能满足数量剧增的患者复明需求。传统白内障防治研究,无论研发药物或治疗方案,均未能考虑个体遗传背景和环境差异,并将复杂生物网络简化为“单一”因素,导致防治效果的局限性和“不确定性”,也产生了大量 “闲置”研究数据。大数据技术和精准医学的发展,为突破传统研究瓶颈提供了可能。我们前期以发病率低但致盲率高的先天性白内障进行探索,系统收集患儿的发病诊疗信息和生物组织数据,建立了全球最大的先天性白内障精准医学研究数据库,获得了国际科学界的高度认可(Science 2015),为进一步将高发病率的老年性白内障累积的海量研究数据转化为精准医疗数据资源奠定坚实基础。本项目拟在已有白内障防治数据和研究成果基础上,对多源大数据进行整合和挖掘分析,预期在分子靶点药物、个体化方案和疗效预测等方面取得突破性进展,全面提高我国致盲眼病防治水平
英文摘要
Cataract is the most prevalent cause of blindness in the world with various phenotype and complex etiology. Currently, cataract surgery is the only option for effective treatment while the relatively insufficient ophthalmologists and medical resources are far from the satisfaction of the requirement of cataract patients, the number of which increases more than 8 million a year in China. The conventional prevention research of cataract is regarded as "single factor”, which leads to limited and uncertain treatment outcomes and numerous unused data. With the development of computational and informatics science, big data has brought new insights into precision medical prevention and treatment model for cataract. We started a pilot project aimed at exploring reasonable precision medical model for congenital cataract, an eye disease with low accidence but high blindness rate. Since 2011, we have included the clinical data containing information on the entire treatment process and the follow-up records [the largest clinical database of congenital cataracts registered at www.clinicaltrials.gov (NCT01417819)] and collected relevant biological information in the bio-bank. The establishment of current program, not only could translate previous cataract research outcomes into precious and sustainable resources for future study, but also would make breakthrough in individualized treatment-decision and postoperative outcome prediction, which could promote health care quality of cataract in China with great scientific value and social significance.
