The Key Laboratory of Human Functional Genomics of Jiangsu Province was founded in 2002 with financial support from the provincial government on the basis of the preparatory work by Nanjing Medical University. After nearly a decade of development and structural adjustment, the usable area of the Key Laboratory reaches 1050 m2 with 180 sets of experimental equipment and 7 of them are over 20 million yuan. The laboratory combined academic research, product development and personnel training into a whole and focused on research in following areas, including metabolic diseases, cancers, neurological diseases, osteoporosis and other important human disease-related genes function. In addition, genetically engineered drugs and diagnostic kits were developed to enhance and promote the diagnosis and treatment of genetic mutation disease. Now the Key Laboratory has 31 faculties and staffs including 15 professors and 1 chief physician, the basic studies and clinical researches are combined under the management. The Key Laboratory has interacted closely and launched several projects with major enterprises to promote the development of economic benefits. In addition to an industry liaison, the Key Laboratory also established a close link with the clinical trials in order to provide services to the patients and serve the public.