I have been working on the molecular causes of neurogenetic syndromes, with an emphasis on duplication or deletion of the 15q11.2-q13 locus, for over 20 years using both Drosophila models and Dental Pulp Stem Cell (DPSC) derived patient derived neurons. The primary focus of my work is to elucidate the underlying molecular changes common to syndromic forms of autism to untangle the complex etiology of non-syndromic ASD. My laboratory uses DPSC neurons grown from the tooth pulp of children with a variety of neurogenetic syndromes. This collection has given me the opportunity to explore gene and protein expression changes across disorders using multiple biological replicates per genotype. We currently house DPSC from >200 individuals representing 16 different syndromes. In this project we will expand our studies to neurons from children with Prader-Willi (PWS), Schaaf-Yang (SYS), Angelman (AS), Duplication 15q (Dup15) and 10 other syndromes. Over the past 15 years we have performed studies involving techniques already ongoing in the lab such as differentiation of DPSC into neurons, western blot analysis, drug studies, circadian studies and lentiviral rescue studies and reporter assays. We continue to push the boundaries of what these unique stem cells can do and have recently begun electrophysiological experiments using this collection or rare syndromes.
