ASXL Symposium Series - Part II
AЯRE ASXL Conference 2018, UCLA Los Angeles - Stephanie Bielas:
Insights from ASXL3 genetic variants: Histone H2A mono-urbiquitanation in Bainbridge-Ropers Syndrome
Dr. Stephanie Bielas is an Assistant Professor in the Department of Human Genetics at University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis of human neurodevelopmental disorders and developing functional assays to validate the patho-genicity of deleterious alleles. Human neurogenetic findings provide a platform from which to investigate molecular and developmental pathogenesis of associated disorders. In this endeavor, she uses human pluripotent stem cells (hPSCs) and mouse models. Her lab identified de novo dominant truncating variants in ASXL3 (Additional-sex combs like 3) as the genetic basis of Bainbridge-Ropers Syndrome (BRS) and dysregulation of histone H2A mono-ubiquitination as key molecular pathology in patient derived cells. Her research is providing important insight into the impact of clinically relevant pathogenic ASXL3 variants on brain and heart development.