Grant: Fellowship: Bisby (Prize)

Autism spectrum disorders are thought to be disorders of development whereby individuals often demonstrate repetitive behaviors and impaired social functioning. Currently, the Harvard Autism Consortium have identified a number of genetic variants in people with Autism that may be causative. That is, that the presence of the genetic variation (e.g. gene duplication, gene deletion) may cause Autism. The purpose of my project is to determine if the genetic variations observed in people with autism have functional consequences. To do this, I will transform skin cells from autistic subjects into brain cells by way of stem cell technology developed at Harvard. As these brain cells contain the genetic variations to be studied, I can apply a series of tests to the cells and see how they respond to a particular treatment compared to brain cells from individuals without the genetic variation. Understanding how cells with the deletion respond to different chemicals could help understand which molecular pathways are affected in autism.