Developing peripheral blood and neuronal biomarkers for autism using a genetically defined subtype

This project will begin to determine the potential validity of a blood based biomarker for autism by comparing gene expression in blood and IPSC cells from the same patients. In this project, Dr. Breen will use information from individuals with a severe form of autism characterized by a mutation of the SHANK3 gene. This work will begin to identify new genes/pathways in blood samples that will improve diagnosis and also identify new drug targets that will enhance the development of new treatments. These findings can then be applied to a broader range of people with ASD.