My laboratory focuses on understanding the genetic architecture of autism. We are working with genome-wide genetic data to identify additional susceptibility loci, the genetic mechanisms by which DNA variants influence autism risk, and the genetic and physiological pathways these risk loci implicate. We can use rich genetic datasets to ask questions about the role for copy number vs. SNP variation, rare vs. common variation, gene-sex interaction, gene-gene interaction, and gene-environment interaction.
We are also using human induced pluripotent stem cell (iPSC) models to study known mutations or copy number variants predisposing to autism. We will first identify the effects of genetic risk variants and then be able to ascertain whether the effects of genetic risk can be modified at the cellular level by environmental or pharmacological agents. These models will be used to test hypotheses emerging from our genetic datasets.
Our long term goals are to use genetic tools to improve understanding, prevention, diagnosis, and treatment of autism and related traits.