Hunan Provincial Key Laboratory of Medical Genetics was founded by Academician Xia Jiahui in the 1970s. The Research Center is a collaborative research platform dedicated to both basic and clinical translation. It is established under the Department of Medical Genetics at Central South University and collaborates with institutions such as Xiangya Hospital, Xiangya Second Hospital, and Xiangya Third Hospital of Central South University. The center brings together clinicians and researchers engaged in medical genetics-related studies to jointly advance scientific research and clinical practice in the field of medical genetics.

Hunan Provincial Key Laboratory of Medical Genetics is dedicated to discovering and elucidating the genetic foundations and pathogenic mechanisms of major human diseases, and converting its research findings into new clinical diagnostic and treatment methods. The department emphasizes the dissemination of knowledge in "Medical Genetics" and the cultivation of specialized talent, contributing to the advancement of genomic medicine and the improvement of human health outcomes.

Representative achievements include:

1. In China, we were the first to conduct the collection, preservation, utilization and database management of human genetic resources, establishing the only international database containing germplasm resources with abnormal karyotypes, which promoted the sharing of genetic resources in China.

2. As the world's first to precisely located the human testicular determining factor and cloned the hereditary deafness pathogenic gene GJB3. In 2010, we created a pathogenic gene identification technology system that is widely used internationally. We have conducted research on the pathological mechanism and new drug development of the GJB3 gene for deafness, and obtained pharmaceutical research achievements with independent intellectual property rights.

3. We have discovered and clarified the double-gene genetic pattern of Parkinson's disease.

4. We have established the most complete gene diagnosis platform in the world and have completed 1/4 of non-invasive prenatal diagnosis globally.

5. In China, we were the first to conduct clinical genetics training, training 80% of the clinical genetics professionals, and we have organized the establishment of a national prevention and control network for severe genetic diseases covering 28 provinces and municipalities. We initiated and established the Chinese Medical Doctor Association Medical Genetics Physician Branch.