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A novel cell-based assay for autism research and drug discovery

State/Province Full: 
United States

It is clear that autism has a complex genetic basis, and many genes associated with autism have been identified. Understanding the consequences of autism-associated mutations at the cellular level will likely be required to meet the long-term goal of identifying safe and effective drug treatments that improve social behaviors of children with autism. In the present study, researchers aim to develop a cell-based system for identifying how neurons are affected by mutations in autism-related genes. This cell-based system will be used in a screen to identify drugs able to reverse any observed changes caused by these mutations. Dr. Restifo and colleagues will focus on the effects of three genes that have found to be associated with autism in humans. They will create genetically modified fruit flies (an animal often used to study basic neuronal development) which have mutations in the fly genes that correspond to the human genes which are mutated in autism. Neurons from these flies will be analyzed for any abnormalities in size and shape that result from mutating these genes. Then, a selection of FDA-approved drugs will be tested to determine whether any can restore normal growth patterns to the mutant neurons. This research, if successful, will advance our knowledge of the effects of autism-associated mutations on neuronal development, and could create a novel system for the identification of drugs which might eventually be used to treat human patients with autism.