“Cell-type specific transcriptional networks related to neurodevelopmental disorders”
Genevieve Konopka, PhD
Professor and Vice Chair, Department of Neuroscience; Jon Heighten Scholar in Autism Research,
Townsend Distinguished Chair in Research on Autism Spectrum Disorders,
University of Texas Southwestern Medical Center

Abstract: Autism spectrum disorder (ASD) has a complex genetic etiology. However, there is converging evidence from single cell profiling studies that the altered development of specific cell types has important functional contributions to ASD pathology. Our work has demonstrated a cell autonomous role in the developing brain for specific transcription factors that regulate molecular pathways at risk in ASD. We have been elucidating the contribution of the transcription factors FOXP1 and FOXP2 to cell function during brain development. Mutations in FOXP1 and FOXP2 are among the most significant recurrent de novo mutations associated with ASD. Using a combination of mouse models and human cellular models, we have revealed the targets of these transcription factors at cellular resolution. We incorporate these findings with measures of mouse behavior and electrophysiology to bridge risk genes with function. Together, these data should provide insight into the functional contribution of ASD risk genes in specific cell types in the brain, and how they relate to ASD-relevant features.

Wednesday, December 14, 2022 at 1:00 pm

Free and open to the public. Email Conte@Harvard.edu to register and zoom info