Michael J Gambello
Professor of Human Genetics and Pediatrics
Section Chief, Division of Medical Genetics
My primary interest is the autosomal dominant disorder tuberous sclerosis complex (TSC), a neurogenetic disorder affecting 1/6000 people. TSC causes substantial morbidity and mortality due to seizures, intellectual disability, and autism spectrum disorders (ASD). We have developed several mouse models of TSC that we have used to study the pathophysiology, as well as test novel treatment strategies. We are especially interested in the association of TSC and ASD, and are trying to elucidate some of the important pathways that are common to both disorders. Such strategies might reveal new targets for pharmacotherapy.
I also have a keen interest in identifying new Mendelian neurodevelopmental disorders using whole exome sequencing (WES) in our clinical molecular laboratory (http://genetics.emory.edu/egl/). We have formed a personal genomic medicine group that collects and reviews cases for WES. Our rich clinical population has already provided a number of cases that we are currently sequencing.