Associate Research Fellow, Institute of Rare Diseases, West China Hospital, Sichuan University; Head of the Genomics Core Facility, Frontier Science Center for Disease-related Molecular Networks, Sichuan University.
Main research interests include medical genetics, with a focus on the identification of pathogenic genes and molecular mechanisms of hereditary deafness; construction of large-scale rare disease cohorts and genomic research.
First discovered and reported the novel deafness gene SMAC/DIABLO for DFNA64 internationally (published in Am J Hum Genet), participated in the pathogenicity identification and molecular mechanism research of multiple deafness genes and variants, and published 9 SCI papers as corresponding author or first author (including co-authorship), and participated in the publication of more than 20 papers. Participated as a key member in the "China Deafness Genetics Consortium (CDGC)" project and the "Genome Sequencing of 100,000 Rare Disease Patients (GSRD-100KWCH)" project.
Currently serves as the Deputy Director of the Expert Committee on Deafness Gene Diagnosis and Prevention of the China Hearing Medicine Development Foundation; Member of the Hearing, Speech and Communication Branch of the Biophysical Society of China; Member of the Genetic and Developmental Diseases Branch of the China International Exchange and Promotion Association for Medical and Health Care.