上海交通大學醫(yī)學遺傳研究所又名上海醫(yī)學遺傳研究所，是我國第一家醫(yī)學遺傳研究所，成立于1978年，創(chuàng)始人為曾溢滔院士和黃淑幀教授，現(xiàn)任所長是曾凡一研究員。上海醫(yī)學遺傳研究所是國內(nèi)最早開展遺傳病基因診斷和產(chǎn)前診斷的單位之一，是衛(wèi)生部醫(yī)學分子胚胎生物學重點實驗室和上海市胚胎與生殖工程重點實驗室的依托單位，也是“遺傳學”國家重點學科和上海市重點學科的領銜單位。目前作為牽頭單位分別承擔“新藥創(chuàng)制”國家重大科技專項和干細胞領域國家重大科學研究計劃項目，此外還承擔了國防部科技創(chuàng)新特區(qū)項目、國家自然科學基金項目、上海市重點項目等科研項目20多項，項目總經(jīng)費3000多萬元。
40年來，本所在血紅蛋白病、基因診斷、基因治療、基因表達調(diào)控、胚胎工程、干細胞研究和轉(zhuǎn)基因動物制藥等領域做出了一系列開創(chuàng)性的工作。在中國大陸倡導和組織了世界上最大規(guī)模的血紅蛋白病普查工作，發(fā)現(xiàn)了8中世界新型血紅蛋白變種。在國內(nèi)率先完成了α地中海貧血、β地中海貧血、血友病、苯丙酮尿癥、杜氏肌萎縮癥、性分化異常和亨廷頓舞蹈病等多種遺傳病的基因診斷和產(chǎn)前診斷。在國際上率先研制成功了乳汁中表達人凝血因子IX的轉(zhuǎn)基因山羊和整合人血清白蛋白的轉(zhuǎn)基因試管牛。近年來該所在遺傳病個體化醫(yī)學和精準醫(yī)學研究領域又取得了新的進展，編制了國內(nèi)首部“遺傳病相關的個體化醫(yī)學檢測技術指南（試行）”，并由國家衛(wèi)計委于2015年1月正式發(fā)布。該所先后5次榮獲國家級、20多次榮獲省部級重大科技獎勵，研究成果先后三次被評為“中國十大科技進展”和三次入選“中國基礎研究十大新聞”，并獲得“全國五一勞動獎狀”、“全國三八紅旗集體”和“敬佑生命.榮耀醫(yī)者”金牌團隊獎。
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.
