Autism Spectrum Disorder

In contrast to the neurodegenerative diseases, whether Drosophila can provide an effective model system for neurodevelopmental diseases like autism spectrum disorders (ASDs) is still an open question. Defining molecular pathways that are dysfunctional in ASDs is key to understanding their pathogenesis. In Alzheimer’s and Parkinson’s Disease, identification of single gene mutations in the 5-10% of genetic cases have revealed core molecular pathways that are altered, including in the larger category of sporadic cases. A major question is whether a similar molecular pathway will emerge for autism based on the recent identification of defined mutations and de novo genome copy number variations that account for 10-20% of ASDs. Current evidence suggests the disease may result from disruption in synapse formation and synaptic plasticity during development. We are taking advantage of genetic manipulations available in Drosophila to explore the mechanisms by which newly identified autism-associated synaptic proteins may alter neuronal activity or synaptic connectivity. We will use these models to explore how basic synaptic properties may be disrupted in autism-associated genes implicated from human genetic studies.