北京大学人类疾病基因研究中心是2000年北京大学与原北京医科大学合并后，为适应21世纪医学生物学发展，争创世界一流大学而建立的研究中心。中心重点从事人类疾病基因组学和功能基因组学研究。其宗旨是：集成开放、创新求实，稳步发展，建立与国际接轨的一流配套的基因研究中心，使我校在这一领域进入国际先进水平。

　　自建立以来，北京大学人类疾病基因研究中心以项目建设的形式，先后利用医学部的一期“985工程”经费及二期“211工程”经费面向全校进行人类功能基因组学和疾病基因组学课题的招标，共资助了76个课题，资助经费超过1000万元。在功能基因组研究方面开展了30多个人类新基因的功能研究，包括新的细胞因子和免疫细胞膜分子基因、新的凋亡和自噬相关基因、新的肿瘤相关基因等，已发表系列论文，申报一批人类基因专利。在疾病相关基因研究方面开展了包括高血脂、动脉粥样硬化、高血压药物敏感基因、慢性阻塞性肺疾病等致病基因或疾病相关基因或SNPs的研究，带动了各附属医院的临床科研工作，取得了一批高水平的疾病相关基因研究成果和论文，使我校这一领域研究水平明显提高。

　　中心现有科研人员、博士后、博士生、硕士生以及客座人员近60人，建有600多平米达到国际水平的现代化实验室，可开展分子生物学、免疫学、蛋白质化学、细胞生物学等实验。一些重点仪器已经对外开放使用。随着一期“985工程”及二期“211工程”的结束，自2006年起，北京大学人类疾病基因研究中心不再担负组织全校基因组课题的任务，进入研究中心的稳定发展阶段，根据国家重大需求和国际基因组学研究前沿确定本中心的主要研究方向和发展定位，重点承担科技重大专项、“863”计划、国家自然科学基金等国家课题，积极开展国际合作。目前，已经形成6个独立课题组，从事人类功能基因组、疾病基因组及人类基因产品研究与开发工作，发挥平台建设、科技创新、人才培养、技术辐射的综合作用，为我国生物医药产业的可持续性发展贡献力量。

　　近年来，基因中心致力于以组学大数据为基础的免疫信息学分析，发现了系列具有重要功能的新细胞因子和免疫细胞膜分子；构建了多个数据库；提出了基因可塑性和虚拟分选的组学概念，引领了国内免疫信息学的发展。深入研究了本中心独立发现的CMTM家族的功能、机制，证明其在EGFR等膜分子转运中发挥重要作用；2017年8月，两篇文章同日在Nature发表，国外两个独立的实验室通过不同方法证明CMTM6在细胞质膜稳定PD-L1，是新的肿瘤免疫治疗靶点，进一步证明、拓展了CMTM在膜分子转运中具有关键作用。深入研究了多个在细胞凋亡和细胞自噬中发挥重要调节作用的新基因，在AUTOPHAGY 连续发表5篇论著，为自噬体膜来源于内质网提供了新的有力证据。

　　

　　机构负责人：马大龙

　　联系人：韩文玲

　　邮箱：madl@bjmu.edu.cn

　　电话：82801149

　　地址：北京市海淀区学院路38号

　　网址链接：http://gene.bjmu.edu.cn/

　　

　　

　　Introduction to the Peking University Center for Human Disease Genomics

 

　　The Peking University Center for Human Disease Genomics (PUCHG) was established in 2000 when the former Beijing Medical University merged with Peking University. The aim of the Center is to keep abreast of the biological developments of the 21st century and to help establish Peking University as one of the leading universities worldwide. Research at the Center focuses on genes related to human disease and functional genomics. By being open, innovative and dynamic, the Center aims to take a place among the top research institutions internationally.

　　Since its establishment in 2000 the PUCHG has launched 76 research projects in the fields of human functional genomics and disease genomics. The Center has already made a series of notable scientific achievements. More than 30 novel human genes have been cloned and characterized, including genes encoding novel cytokines and membrane molecules, apoptosis- and autophagy related genes, tumor-related genes et al. Disease-related genes and polymorphisms have been uncovered that relate to important human conditions including hyperlipemia, arteriosclerosis, hypertension drug-sensitivity, chronic obstructive lung disease, et al. These discoveries have led directly to clinical research in hospitals affiliated to the Center, have generated a large number of publications in the field of disease-related genetic research, and have contributed significantly to raising the research profile of the Center.

　　At present, nearly 60 staff work at the PUCHG including research scientists, post-doctoral fellows, PhD and MSc students, and visiting scholars. The laboratories cover an area of over 600 square meters and are equipped with state-of-the-art instrumentation for molecular biology, protein chemistry, cell biology and immunology. With the conclusion of the first "985 Project" and the second "211 Project" in 2006, PUCHG was no longer responsible for overseeing the genomics projects of the whole faculty, and has therefore been able to consolidate its development as an independent research institution. The primary thrust of research and development at the Center is now determined according to a national plan that reflects both the strategic needs of the state and the objective of establishing the Center at the international forefront of genomics research. PUCHG is committed to major scientific and technological projects, with the support of "863" program and the National Natural Science Foundation, and cooperates actively with researchers internationally. At present there are six separate research groups at the Center, engaged in Human Functional Genomics, Disease Genomics, and Human Gene Product Research and Development. In addition, the Center provides comprehensive services to industrial and academic collaborators, including platform construction, technological innovation, personnel training, and technology transfer, and these have made a major contribution to the development of the bio-pharmaceutical industry in China.

　　In recent years, the center is dedicated to study immunoinformatics based on omic big data, find series of new cytokines and membrane molecules of immune cells with important functions; build multiple databases; put forward genetic plasticity and virtual sorting concept, leading the development of domestic immunoinformatics. PUCHGcontinues analyzing the function and mechanism of CMTM, the gene family found independently by the center, verifies that CMTM members play an essential role in the traffic of EGFR; in August 2017, two articles published on the same day in Nature, two independent laboratories show that CMTM6 stabilizes PD-L1in the cell membrane, is a new target for tumor immunotherapy with different methods, which verify further that CMTM members play key roles in the traffic of membrane molecules. The center have identified several new genes that have important regulatory roles in apoptosis and autophagy, published 5 articles in AUTOPHAGY, which provides new evidence for the autophagic membrane derived from endoplasmic reticulum.

　　

　　Director of the center: Ma Dalong

　　Contact: Han Wenling

　　Mailbox: madl@bjmu.edu.cn

　　Telephone: 82801149

　　Address: No. 38, Xueyuan Road, Haidian District, Beijing

　　URL link: http://gene.bjmu.edu.cn/