A key challenge in translating ASD risk variant discovery to novel therapeutics has been how the functionally diverse genes, once perturbed, converge to confer high risk for ASD. Fikri Birey seeks to take on this challenge by aiming to chart the multi-dimensional phenotypic landscape of ASD risk using a human cellular model of the developing cerebral cortex (mid-to-late gestational stage) and state-of-the-art cellular and molecular assays.

Many individuals with autism carry novel mutations in transcription factors, which are critical regulatory proteins. In the current project, Max Staller plans to investigate the functional consequences of mutations in activation domains, the regions of transcription factors that activate target genes.