Stephanie Bielas, PhD

Associate Professor of Human Genetics and Pediatrics, Department of Human Genetics Associate Chair for Research

Research Interests

The Bielas lab has an active human genetic component, focused on identifying novel genetic etiologies of neurodevelopmental disorders. We perform functional analysis of genes that cause primary microcephaly and encode components of chromatin complexes that are high confidence risk alleles for autism spectrum disorder. Our functional follow up uses mammalian models of neural development, primarily mouse and human brain organoids. Both models allow us to investigate novel and pathogenic mechanisms of neurogenesis and acquisition of cortical neuron fate.