Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder in Canada and can severely impair a child's ability to communicate and socialize with others. Despite recent improvements in behavioral and communication therapies - which help manage the symptoms of ASD, there are still no effective treatments that target the underlying molecular pathways misregulated in this disorder. Consequently, the development of new therapeutic strategies that target the underlying biology of ASD is a critical step towards creating new and effective treatment options. In a recent scientific breakthrough, researchers at the University of Toronto discovered that "micro-exons" - small, neuron-specific segments located within particular genes - are frequently misregulated in the brains of individuals with ASD - uncovering a novel and potentially important mechanism underlying this disorder. Working in the laboratory of Dr. Benjamin Blencowe, the goal of my CIHR post-doctoral research is to identify new chemical compounds that stimulate micro-exon inclusion in the brain, and assess the potential of these compounds to treat ASD. To accomplish my goals, I will utilize a state-of-the-art, high-throughput drug screening technique to monitor the effect of tens of thousands of small molecules on micro-exon inclusion in parallel. The newly identified compounds will then be characterized in mice that are deficient in a key regulator of micro-exons and that display autism-like characteristics, in order to assess their capacity to rescue neurological changes associated with ASD, as well as behavioral changes such as reduced social interaction. This project represents a critical step towards identifying novel chemical compounds that increase micro-exon inclusion in the brain, and will investigate the potential of these compounds to treat ASD and other related neurological disorders.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
