发育与疾病相关基因教育部重点实验室是在原铁道部分子生物学部级重点开放实验室、东南大学遗传学研究中心的基础上建立起来的。原南京铁道医学院遗传学学科是国务院首批硕士学位授予点，1987年成为铁道部医学遗传学重点学科，是铁道部唯一一个与生命科学相关的重点学科。1996年本学科所在的实验室经铁道部批准为部级分子生物学开放实验室(实验室主任杨焕明教授，学术委员会主任卢圣栋教授)。2000年4月，原南京铁道医学院并入东南大学，本学科及实验室在学校集成创新、择优扶强的学科建设思想的指导下，加强医工结合，整合优势资源，积极培育新的学科生长点，得到了更快地发展。2000年被国务院学位委员会批准为遗传学博士学位授予点。2001年获准建立江苏省“基因诊断与基因治疗”医学重点实验室，同年成为国际“HLA表达与肿瘤”参照实验室，遗传学学科成为教育部“长江学者奖励计划”特聘教授设岗学科，2002年成为江苏省高等学校“十五”重点学科；同年发起成立了“江苏省发育生物学学会”。2003年实验室获教育部批准建设“发育与疾病相关基因”重点实验室，2005年通过教育部组织的专家组验收，2010年、2016年两次通过教育组织的专家组评估。
实验室发展的长期目标是：1、阐明特定组织器官发育的基本规律与调节机制（国际前沿）；2、为相关疾病的诊、治、防提供科学依据和手段（人民健康）。目前已形成了由22个研究组组成的神经发育与功能的调控机制、干细胞的基础及应用、发育疾病的遗传调控与临床转化研究等三个稳定、关联和互补的研究方向。用酵母、粘细菌、线虫、果蝇、小鼠、大鼠等不同进化层次的模式生物以及临床标本，研究神经系统发育和人类认知疾病的遗传基础与分子机制；从遗传和表观遗传的角度，探索细胞分化、发育与肿瘤发生过程中基因调控的规律。针对上述目标，实验室成员先后领衔承担科技部973、863、重点研发项目和重大研究计划项目5项，作为课题组长承担课题10余项，作为主持人承担国家自然科学基金委重点项目12项。这系列研究工作已形成了明显的优势与特色。

The Key Laboratory of Developmental and Disease-related Factors of the Ministry of Education was established on the basis of the former Key Laboratory of Molecular Biology of the Ministry of Railways and the Genetics Research Center of Southeast University. The genetics discipline of Nanjing Railway Medical College is one of the first master's degree awarding sites of The State Council. In 1987, it became the key discipline of medical genetics of the Ministry of Railways, the only key discipline related to life science of the Ministry of Railways. In 1996, the laboratory was approved as a ministerial open laboratory for molecular biology by the Ministry of Railways (the director of the laboratory is Professor Yang Huanming and the director of the academic committee is Professor Lu Shengdong). In April 2000, the former Nanjing Railway Medical College was merged into Southeast University. Under the guidance of the school's integrated innovation and discipline construction thought of selecting the best and strengthening the strong, the discipline and laboratory have strengthened the combination of medical and industry, integrated superior resources, and actively cultivated the growth points of new disciplines, which have achieved faster development. In 2000, it was approved by the Academic Degrees Committee of The State Council to confer doctor's degree in genetics. In 2001, it was approved to establish the medical Key laboratory of "Gene Diagnosis and Gene Therapy" of Jiangsu Province. In the same year, it became the reference laboratory of "HLA Expression and Tumor" of the international society. Genetics became the subject of "Changjiang Scholars Award Program" of the Ministry of Education, and became the key subject of "tenth Five-year Plan" of higher education in Jiangsu Province in 2002. In the same year, "Jiangsu Developmental Biology Society" was founded. In 2003, the laboratory was approved by the Ministry of Education as a key laboratory of "Genes related to Development and disease". In 2005, the laboratory passed the inspection of the expert group organized by the Ministry of Education. In 2010 and 2016, the laboratory passed the evaluation of the expert group organized by the education organization twice.
The long-term goals of laboratory development are: 1. To clarify the basic laws and regulatory mechanisms of specific tissue and organ development (international frontier); 2. Provide scientific basis and means for diagnosis, treatment and prevention of related diseases (people's health). At present, there are three stable, related and complementary research directions, including the regulation mechanism of neural development and function, the basis and application of stem cells, genetic regulation of developmental diseases and clinical translational research, which are composed of 22 research groups. To study the genetic basis and molecular mechanism of nervous system development and human cognitive diseases by using model organisms at different evolutionary levels, such as yeast, myxobacteria, nematodes, drosophila, mice and rats, and clinical specimens. To explore the regulation of genes in cell differentiation, development and tumorigenesis from the perspective of heredity and epigenetics. In view of the above objectives, members of the Laboratory have successively taken the lead in undertaking 5 projects of 973, 863, key RESEARCH and development projects and major research plans of the Ministry of Science and Technology, more than 10 projects as project leaders, and 12 key projects of The National Natural Science Foundation of China as hosts. This series of research work has formed obvious advantages and characteristics.