上海医学遗传研究所简介

上海医学遗传研究所(SIMG)，又称上海交通大学医学遗传研究所，是中国第一家医学遗传研究所。它的前身是曾溢滔院士及其同事于1978年创建的上海市儿童医院医学遗传学实验室。遗传所现有职工40多人，现任所长为曾凡一教授。学术委员会主任由中国工程院首批院士曾溢滔教授担任。

长期以来，遗传所以“遗传与发育”为研究主轴，按照国家和上海市中长期科技发展规划，将开展转基因动物/乳腺生物反应器的药物研究并加快产业化应用作为主要研究方向。遗传病基因诊断与基因治疗研究、遗传病与重大出生缺陷的分子机制研究、早期胚胎发育的生物学特性与调控研究等也是遗传所的重要研究方向。

遗传所现有临床遗传研究室、分子遗传研究室、生化与细胞遗传研究室、发育遗传研究室、医学信息遗传研究室等5个研究室，并拥有现代化的大动物实验基地和SPF级小动物设施。同时也是国家卫健委医学胚胎分子生物学重点实验室、上海市胚胎与生殖工程重点实验室和中国遗传医学中心基因诊断部的依托部门。

作为中国医学遗传学领域的领军者，遗传所将基础研究与应用研究相结合，形成了医学、遗传学、胚胎学相互交叉、相互渗透的独特研究体系。在血红蛋白病、分子诊断、基因治疗、基因表达调控、转基因动物、胚胎工程、干细胞等领域开展了一系列开创性研究。主编学术专著7部，发表论文500余篇，有多篇代表性论文在Nature、Lancet、PNAS、Blood、Am J Hum Genet、Hum Mol Genet等知名SCI期刊发表。迄今为止，共获得国家级、部级、市级重大成果奖40余项。其中，遗传病基因诊断、转基因动物生物反应器、干细胞研究成果入选“中国十大科技进展”、“中国基础研究十大新闻”、“中国农业科学十大新闻”、“中国医药卫生十大新闻”等。

上海医学遗传研究所已成为国内外具有重要影响的医学和生物学基地。与美国、法国、加拿大、以色列、荷兰、香港等国家和地区的40多所高校和科研机构建立了良好的科研合作关系。先后主办和组织国际、区域性学术会议。为中国与国际学术领域的合作与交流做出了巨大贡献。

Introduction for Shanghai Institute of Medical Genetics

Shanghai Institute of Medical Genetics, (SIMG), which is also named as Institute of Medical Genetics, Shanghai Jiao Tong University, is the first institute of medical genetics founded in China. It was the former the laboratory of Medical Genetics, Shanghai Children’s Hospital, which was found by Professor Yi-Tao Zeng and his collegues in 1978.

Currently, more than 40 staffs are working together in SIMG and the present director is Professor Fanyi Zeng, a well-known bio-meidical scientist who obtained MD/PhD degree from University of Pennsylvania, USA. The Chairman of the Academic Committee is Professor Yi-tao Zeng, one of the first batch of academicians, the Chinese Academy of Engineering.

All the while, SIMG focuses on “heredity and development”, the core issues of life science. According to national and Shanghai Long-term Scientific and Technological Development plan, the main research direction of SIMG is to carry out the pharmaceutical research of transgenic animal/mammary gland bioreactor and accelerating the industrialization application. The research of genetic disease gene diagnosis and gene therapy, the molecular mechanism of genetic diseases and major birth defects, and the biological characteristics and regulation of early embryonic development are also important research directions of SIMG, which will play an important role in controlling human genetic diseases and improving the quality of birth population.

Currently, SIMG has five laboratories, i.e., Clinical Genetics Lab, Molecular Genetics Lab, Biochemical and Cytogenetics Lab, Developmental genetics Lab, Medical Bioinformatics Lab, and a modern large-animal experimental base and an SPF small animal facility. Two key laboratories (NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering) and Division of Gene Diagnosis, National Center for Genetic Medicine are also affiliated to SIMG.

As the leadership of Medical Genetics in China, SIMG focuses on the frontier of bio-medical science in view of our national situation, to form a unique research system in which basic research and applied research are combined, and medicine, genetics and embryology are crisscrossed and permeated into one another. SIMG has conducted a series of pioneering researches in hemoglobin disorders, molecular diagnosis, gene therapy, regulation of gene expression, transgenic animals, embryo engineering and stem cells, as well as in the process of production, study, and research. It has edited seven academic monographs and published over 500 papers, a number of representative papers of which appeared in well-known SCI journals such as Nature、Lancet、PNAS、Blood、Am J Hum Genet、Hum Mol Genet, etc. So far, SIMG has been awarded more than 40 national, ministry and municipal prizes for major achievements. Among the prizes, the achievements in gene diagnosis of genetic diseases, transgenic animal-bioreactor, and stem cells have been ranked in “The Ten Scientific and Technological Developments in China”, “The Top Ten News Items of China’s Basic Research”, “The Top Ten News Items of Chinese Agricultural Science”, and “The Top Ten News Items of Chinese Medicine and Health”. SIMG has turned out to be an important, influential medical and biological base at home and abroad.

It has established favorable scientific cooperation with over 40 universities and institutions of such countries and regions as the United States, France, Canada, Israel, the Netherlands and Hong Kong. It has successively hosted and organized international and regional academic conferences. Thus, SIMG has made great contribution to the cooperation and exchange between China and the international academic fields.