Our overall interest is to understand the molecular mechanisms underlying autism spectrum disorder (ASD) and how mutations in ASD genes can lead to neuronal dysfunction, with the goal to identify key pathways that can be eventually targeted for the development of therapies. We utilize a three-pronged approach to study ASD.
Next generation sequencing to identify ASD genes
We apply genomic technologies including whole exome and genome sequencing to identify pathogenic variants that underlie disease in patients with ASD.
Characterizing the neuronal function of ASD genes
In order to study the function of candidate ASD genes, we model the identified mutations in neuronal cultures and characterize the resulting structural and functional phenotypes.
Understanding the underlying molecular mechanisms
The ultimate goal of our studies is to identify biomarkers for diagnosis and molecular targets for the development of therapeutics. We utilize the mouse as a model to dissect the pathways in which ASD genes normally function.