Grant: Operating Grant - PA: Genetics (Bridge Funding: Research Priorities)

Neurodevelopmental disorders such as autism spectrum disorder and intellectual disability have a strong genetic component. In many cases, genetic mutations have been repeatedly observed in affected individuals. The identification of genetic mutations that underpin these disorders can provide insight into the disease mechanisms, which in turn should allow treatment strategies to be designed, in order to improve the quality-of-life of affected individuals and families. However, in many cases, how the identified genes contribute to neurodevelopment remains poorly understood. In previous work, we focused on studying a group of genes that are linked to neurodevelopmental disorders. These genes encode proteins that function as master regulators of other genes. Using genetics, we determined that these genes work together to help generate neurons in the cerebral cortex. In our current proposal, we will expand upon this work to show how these genes regulate the functions of cortical neurons. We will also study how the mutations that have been observed in humans with neurodevelopmental disorders can undermine the functions of cortical neurons.