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Neurocognitive Phenotypes in the Genetics of Autism

Salt Lake City
State/Province Full: 
United States

One of the major obstacles for autism genetics research is heterogeneity: extensive variations in clinical presentation make it difficult for investigators to correlate genetics findings with heterogeneously presented symptoms. By looking at traits in unaffected family members that are not autism but are associated with autism, however, scientists might be able find ways to lessen the complexity of the genetic analysis. Michel Villalobos, Dr. Mahon's fellow, will work with Dr. McMahon to examine variables related to intellectual functioning, language ability, sex, and ASD characteristics in autistic individuals and their unaffected family members. It is hoped that analyzing these neurocognitive variables using the rich and unique Autism Speaks-funded Autism Genome Project linkage data (AGP phase 1) could help define subtypes to further reduce analytic complexity and gene identification. What this means for people with autism: This project will leverage a rich, unique dataset generated by the AGP to explore new approaches in autism gene discovery. If successful, findings from this study could speed gene identification and shed light on the complex relationship between autism genotype and phenotype.