Using Induced Pluripotent Stem Cells to Study Autism

Autism Spectrum Disorders (ASDs) are a complex group of neurodevelopmental diseases many of which have a genetic basis. While we are starting to identify some of the mutations that confer susceptibility to ASDs, we known little about how these mutations alter the development and function of the human brain. The ability to generate induced pluripotent stem (iPS) cells from the skin of patients with ASDs, combined with our ability to differentiation of these cells into cortical neurons, allows us to establish cellular models of ASDs in the lab.  We have generated iPS cells from the skin of patients with syndromic forms of autism and have differentiated these cells into neurons. We have identified cellular phenotypes in neurons from some of these patients that provide novel insights into the underlying cellular basis of autism. I will describe our results and discuss some of the challenges of using iPS cells to study ASDs.  This strategy is allowing us to study the development of patient-derived neurons for the first time and is helping us identify therapeutic targets for the development of new pharmaceuticals to treat ASDs and other neurodevelopmental disorders.