My laboratory interests span two major areas 1) Medical Genetics and Metabolism and 2) Leukemia. In Genetics my laboratory focuses on novel disease gene discovery in patients identified through the Undiagnosed Diseases Network, and investigating several genetic disorders including Pitt Hopkins Syndrome, IQSEC2-related disorder and CACNA1E epileptic encephalopathy. We have systematically and characterized patient derived induced pluripotent stem cell (iPSC) models of several inherited monogenic causes of intellectual disability and neurodevelopmental disorders developing phenotypic assays amenable to drug screening to precision targeted therapeutics.
In Leukemia we have identified two related genes, TLE1 and TLE4, as novel tumor suppressor genes that cooperate with other genetic events in malignant transformation. We have characterized the role of these proteins in leukemogenesis and normal hematopoiesis using a variety of in vivo and in vitro techniques. We have also characterized targetable intracellular signal pathways through which they exert their effects.
A second focus of the lab has been characterizing the components of the leukemic stem cell niche, especially miRNAs, and using this information to explore novel targeted therapies.