Full Name
Fengxiao Bu
Job Title
Associate Professor, Medical Genetics
Company/Institute
West China Hospital
Speaker Bio
Fengxiao Bu is Vice Director of the Institute of Rare Disease at West China Hospital, Sichuan University. He also serves as a Youth Committee Member of the Chinese Society of Genetics and a Member of the Auditory, Speech, and Communication Branch of the Chinese Biophysical Society. Dr. Bu has authored over 40 peer-reviewed papers in leading journals, including Genome Medicine, Journal of the American Society of Nephrology, Advanced Science, PLOS Genetics, Journal of Genetics and Genomics, and The Journal of Clinical Endocrinology & Metabolism. His research primarily focuses on the development of genomic analysis tools, pipelines, and databases tailored for rare disease diagnosis and management. He also investigates the genetic and molecular mechanisms underlying rare diseases, particularly hereditary deafness.
Presentation Title
Current Status and Progress of "Genome Sequencing of 100,000 cases with Rare Diseases" Project
Fengxiao Bu