We are working at the intersection between model organism genetics and the discovery of novel disease-causing mutations in human genomes. My long-term research goal is to understand the gene regulatory networks and developmental mechanisms that assign different cell identities in functionally appropriate positions in the vertebrate embryo, and to utilize this knowledge for the advancement of human medicine. This includes building bioinformatics tools that are disease agnostic and species agnostic, that we have applied to human genomes as well as model organism genomes. My lab is recognized as a founder and leader in the field of vertebrate left-right (LR) development, discovering genetic pathways and mechanisms that convert bilateral symmetry to left-right asymmetry, including essential functional and/or structural asymmetries in the heart, brain and digestive system. Disruptions of LR asymmetry result in a large percentage of complex congenital heart defects affecting approximately thirty-five thousand births per year in the US. We have generated zebrafish genetic models of human congenital heart disease (CHD), ciliopathies, Roberts syndrome, Li-Fraumeni syndrome, colon cancer and rare/orphan diseases in pediatrics.
