Molecular Analysis of Developmental Brain Disorders Associated with Synaptic Pathology

ABSTRACT The molecular mechanisms of synaptopathy that arise downstream of the large number of gene conferring risk for these disorders remains unclear. Particularly, how different risk genes may segregate into common molecular mechanisms has been challenging to identify. Likewise, how genetic missense variants result in pathology remains an enigma. These gaps in knowledge pose a significant barrier to the field and limit our ability to envision stratagies to ameliorate pathogenesis. In this project, we will develop and utilize innovative proteomic, scRNA-seq, and genome engineering approaches to solve these problems at larger scales than previously possible in animals. We anticipate these data will provide a new and unparalleled molecular framework for ASD and related disorders as well as future studies on new targets to beneficially modulate behavior.