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 been 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 Food and Drug Administration-approved drugs will be tested to determine whether any can restore normal growth patterns to the mutant neurons. This research, if successful, will advance 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.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
