摘要
生物医学技术的发展,以及近几年"精准医学"概念的提出,使得人们对疾病的探究越来越多地深入到分子层面.与此同时,医学诊疗也逐渐趋于个性化.作为发病率低、发病机制复杂、治疗难度极大的一类疾病,罕见疾病越来越受到人们的关注.研究发现,详细的临床表型是破译基因和实现罕见疾病的精准药物的基石.为了服务于精准医学的发展、辅助提高罕见疾病的诊疗水平,我们建立了中文的罕见疾病多组学信息标准化平台eRAM(Encyclopedia of Rare disease Annotation for Precision Medicine, www.unimd.cn/eram).该平台系统地整合了目前可获得的罕见疾病临床表现和分子机制的数据,揭示了许多疾病之间的新关联. eRAM为15942种罕见疾病提供了丰富的注释,包含6147种人类疾病相关表型、31661种哺乳动物表型、10202种来自UMLS的症状、18815种基因和92580种基因型. eRAM同时提供疾病注释体系、疾病网络、疾病预测、病例提交等功能,不仅可以提供有关罕见疾病机制的信息,还可以促进临床医生对罕见疾病做出准确的诊断和治疗决策.
In recent years, with the development of biomedical technology as well as the concept of ＂precision medicine＂, much effort has been devoted to relevant preclinical and clinical research, leading to the molecular study of diseases. Meanwhile, the diagnosis and treatment of diseases are becoming more and more personalized. With low incidence, complicated pathogenesis and large difficulty in treatment, rare diseases have aroused public awareness. Latest studies have found that detailed clinical phenotype is the keystone of deciphering genes and precise treatment for rare diseases. To develop precision medicine and to improve the diagnosis and treatment of rare diseases, we built a standardized Chinese platform named Encyclopedia of Rare Disease Annotation for Precision Medicine（eRAM, www.unimd.cn/eram）, which systematically integrates the clinical manifestations and molecular annotations of rare diseases and provides new connections among rare diseases. At present, the platform contains a rich annotation for 15,942 rare diseases,including 6,147 human disease-related phenotypes, 31,661 mammalian phenotypes, 10,202 symptoms from UMLS, 18,815 genes,and 92,580 genotypes. eRAM provides enriched disease multi-level annotations, as well as connections among rare diseases.Moreover, additional functions are provided, including disease prediction and EMR（electric medical records） submission for users,providing information about rare disease mechanisms and assisting clinicians to make accurate diagnosis and treatment decisions for rare diseases.
作者
贾瑾萌
明月
安仲新
梁云翔
郭东铭
李鑫
陈庚
田剑
冯国双
金雅琼
郭永丽
倪鑫
石铁流
JIA JinMeng;MING Yue;AN ZhongXin;LIANG YunXiang;GUO DongMing;LI Xin;CHEN Geng;TIAN Jian;FENG GuoShuang;JIN YaQiong;GUO YongLi;NI Xin;SHI TieLiu(The Center for Bioinformatics and Computational Biology,Shanghai Key Laboratory of Regulatory Biology,the Institute of Biomedical Sciences and School of Life Sciences,East China Normal University,Shanghai 200241,China;National Children＇s Health Center and Beijing Children Hospital,Capital Medical University,Beijing 100045,China)
出处
《中国科学：生命科学》
CSCD
北大核心
2018年第9期1026-1032,共7页
Scientia Sinica(Vitae)
基金
国家自然科学基金(批准号:31671377)
北京市医院管理局重点医学专业发展计划(批准号:ZYLX201508)
北京市卫生系统高层次卫生技术人才学科骨干项目(批准号:2015-3-079)资助
关键词
罕见病
疾病注释
临床表型
精准医疗
rare disease
disease annotation
clinical phenotype
precision medicine
