Department of Cell Biology
My research interests are focused on dysregulated intracellular signal transduction in Fragile X syndrome (FXS) and other autism spectrum disorders. FXS is the most frequent inherited intellectual disability and the predominant monogenic cause for autism. Our research has discovered that in a mouse model for FXS, enzymatic activity and downstream signaling of phosphoinositide-3 kinase (PI3K) is exaggerated and stimulus-insensitive. Interestingly, apart from FXS, several other autism spectrum disorders are characterized by defects within the PI3K/mTOR pathway. Using genetic and pharmacologic approaches in a mouse model and patient cell lines, we are currently testing whether dysregulated PI3K/mTOR signaling can be used as therapeutic target and/or biomarker for FXS and other autism spectrum disorders.