Xia, Kun

Biography

My research interests is to identify the causative gene or susceptibility gene for human genetic disorders, and then investigate the molecular mechanism of the related diseases. The research projects in my team are composed of three parts. Part I: Collection and Reservation of the Human Genetic Resources. We collect the genetic resources including genetic disease pedigrees and sporadic cases form all over China, we are intersted in neuropsychiatric diseases, skin diseases, eye diseases, etc. Part II: Mapping and Identification of the Gene for Mendelian Diseases. The stratedgy is mostly family-based study, including linkage analysis using array and causative gene identification using sanger sequencing and next generation sequencing. Part III: Autism Genetics. Autism, an important neurodevelopmental diseases,is the most common autism spectrum disorder. People with autism have differences in the development of their thinking, language, behavior and social skills. The differences appear before age three, and can be diagnosed by 18 months. 

Research Interest

Chromosomal locations and causative genes associated with autism, using karyotype analysis, genome wide association study(GWAS), trios based TDT, genome wide CNVs analysis and high throughput-sequencing.