Nervous system development-related diseases, including mental retardation, developmental delay and pediatric autism. Studies have shown that genetic factors are closely related to the occurrence and development of these diseases, but there is no clear genetic diagnostic criteria and effective treatment.

February 13，《Nature·Genetics》（impact factor：31.6）published the paper named “Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases”, the professor of Department of Forensic Medicine Professor Bo Xiong is the co-author of the paper, Huazhong University of Science and Technology Tongji Medical College Department of Forensic Medicine and Brain Institute for the second completion of the paper unit.

Genetic factors are closely related to the occurrence and development of neurological diseases. Although the results of exon sequencing in recent years provide a large number of candidate pathogenic genes, but the number of samples is too small, the mutant gene is scattered and it is difficult to identify the relationship between disease and genes. Professor Bo xiong investigated the research which had collected more than 12000 DNA samples from the Patients with neurological developmental disorders, And the target genes obtained by exon sequence were subjected to target depth sequencing, and 91 susceptibility genes were significantly correlated with these diseases. this research selected out a lot of Pathogenic mutations, and Initially provided information on the characteristic mutations that led to different subtypes of the disease providing a theoretical basis for the establishment of genetic diagnostic criteria for such diseases and providing potential treatment Target.

In addition, using the similar research method, professor Bo Xiong involved in another scientific research projects on Pediatric autism in China were susceptible gene mutation frequency survey, found some of the high mutation gene in Chinese to guide the precise diagnosis and treatment of pediatric autism as a partial theoretical basis. And this research had published on 《nature·communication》，the title : De novo genic mutations among a Chinese autism spectrum disorder cohort, professor Bo xiong is the co-author of this paper.

It is reported that professor Bo xiong is the introduction of outstanding overseas talent of the Department of Forensic Medicine at the end of 2015, the group of " Project of Thousand Youth Talents" selected, is mainly engaged in neurobiology, genetics and neurological diseases and other aspects of research, and the Research work is National Natural Science Foundation of China (General program) and the Huazhong University of Science and Technology Innovation Fund and other funding.

More details: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3792.html