上海交通大学医学遗传研究所又名上海医学遗传研究所，是我国第一家医学遗传研究所，成立于1978年，创始人为曾溢滔院士和黄淑帧教授，现任所长是曾凡一研究员。上海医学遗传研究所是国内最早开展遗传病基因诊断和产前诊断的单位之一，是卫生部医学分子胚胎生物学重点实验室和上海市胚胎与生殖工程重点实验室的依托单位，也是“遗传学”国家重点学科和上海市重点学科的领衔单位。目前作为牵头单位分别承担“新药创制”国家重大科技专项和干细胞领域国家重大科学研究计划项目，此外还承担了国防部科技创新特区项目、国家自然科学基金项目、上海市重点项目等科研项目20多项，项目总经费3000多万元。
40年来，本所在血红蛋白病、基因诊断、基因治疗、基因表达调控、胚胎工程、干细胞研究和转基因动物制药等领域做出了一系列开创性的工作。在中国大陆倡导和组织了世界上最大规模的血红蛋白病普查工作，发现了8中世界新型血红蛋白变种。在国内率先完成了α地中海贫血、β地中海贫血、血友病、苯丙酮尿症、杜氏肌萎缩症、性分化异常和亨廷顿舞蹈病等多种遗传病的基因诊断和产前诊断。在国际上率先研制成功了乳汁中表达人凝血因子IX的转基因山羊和整合人血清白蛋白的转基因试管牛。近年来该所在遗传病个体化医学和精准医学研究领域又取得了新的进展，编制了国内首部“遗传病相关的个体化医学检测技术指南（试行）”，并由国家卫计委于2015年1月正式发布。该所先后5次荣获国家级、20多次荣获省部级重大科技奖励，研究成果先后三次被评为“中国十大科技进展”和三次入选“中国基础研究十大新闻”，并获得“全国五一劳动奖状”、“全国三八红旗集体”和“敬佑生命.荣耀医者”金牌团队奖。
Shanghai Institute of Medical Genetics (SIMG), also known as the Shanghai Jiao Tong University Institute of Medical Genetics, was founded by Professor Yitao Zeng and Shuzhen Huang in 1978. It was the first institute of medical genetics in China, and the current Director is Professor Fanyi Zeng.
SIMG is one of the earliest institutions to carry outmolecular diagnosis and prenatal diagnosis in China. The institute has performed pioneering research in molecular diagnosis and the treatment of genetic diseases, exemplified by the landmark work on the hemoglobinopathies, hemophilia, PKU, DMD and Huntington disease. It was signified by initiating and organizing the world's largest general survey of hemoglobin diseases in the Chinese mainland, andthediscovery of 8 new varieties of hemoglobin in the world. The research focus of SIMG has expanded over the decades to encompass cross-disciplinary research such as embryo engineering and stem cells. It has been funded by major grants such as Ministry of Science and Technology of China, Ministry of Public Health of China (MOH), etc.
SIMG has been awarded more than 40 national, ministerial or municipal prizes for major research achievements. Among the prizes, their stem cells work have been named 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 been an influential medical and biologicaltreatment and research institution at home and abroad, and every indication suggests even more remarkable in the future.
