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Physiological Studies in a Human Stem Cell Model of 15q Duplication Syndrome

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United States

Although there are likely to be many causes of autism, duplications of a particular region (15q) of the human chromosome is the most frequently identified genetic abnormality in individuals with autism. This syndrome is characterized by cognitive disability, language impairment, delays in motor development, and sensory processing disorders. Seizures are also seen in the majority of children with 15q duplication syndrome. As with many other forms of autism, deficits in synaptic signaling in the brain play a critical role in the disease, but the underlying mechanisms are unknown. In order to develop appropriate treatments, it is necessary to understand what happens at a molecular level that results in the autistic behaviors. Several mouse models have been developed to address these questions, but until now this basic research has been limited to animal models because it has not been possible to examine the functional properties of brain neurons in affected individuals. A recent discovery, however, has allowed scientists to reprogram human skin cells into a type of stem cell that can then be converted into brain cells, or neurons. The research group has recently succeeded in reprogramming skin cells from 15q duplication syndrome autism patients into functional brain cells that can be grown and studied in a dish. They are now uniquely poised to take advantage of this novel and exciting system to test specific ideas about the underlying molecular and cellular deficits in autism, and attempt to reverse those deficits. This approach may prove useful for identifying novel targets for drug discovery and for screening potential therapeutics aimed at ameliorating and/or curing the seizures, movement disorders, and language and cognitive impairments in autism.