To achieve more understanding of the pathogenic factors of Mendel's genetic diseases at the genetic level, thereby promoting the development of clinical diagnosis, disease prevention and treatment of Mendelian genetic diseases.
In order to make up for the shortcomings of traditional research methods and accelerate the discovery of unknown pathogenic genes, BGI launched the “Chinese Thousand Monogenetic Diseases Program” in May 2010, through collaborations with scientists in monogenetic disease around the globe and relies on BGI’s advanced sequencing platform and powerful information analysis capability. to transform the rich genetic resources into new scientific research and promote the development of monogenic diseases filed.
Since the launch of the program, BGI has cooperated with more than 50 research and medical organizations in China and internationally, to launch research on about 150 pathogenic genes. More than 50 projects are in the late verification stage.
On November 23, 2010, the result of collaborative research between BGI and Central South University Xiangya Hospital and other organizations, "Using exome sequencing technology to discover cerebellar ataxia new pathogenic gene TGM6" was published online in the internationally renowned magazine
On March 24, 2011, the result of a collaborative research conducted by the research team of BGI and the First Affiliated Hospital of Anhui Medical University "Using exon sequencing technology to discover and verify that mutations in the NCSTN gene can lead to the development of reverse acne" was published online in the
Journal of investigative dermatology.
Jun Ling Wang, Xu Yang, Kun Xia,et al.TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Yuan Liu, Min Gao, Yong-mei Lv,et al.Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa).
Journal of investigative dermatology , 2011,Mar 24.