Project Summary
P1 will investigate genetic and epigenetic dysregulation in CAKUT. She will couple data from pediatric renal hypodysplasia patients with mutations in epigenetic regulators such as KMT2D, KANSL1, and KDM6A with molecular analyses of how chromatin modifications guide kidney-specific developmental programs, as well as with phenotypic and molecular analyses of conditional mouse mutants of these epigenetic, chromatin-modifying enzymes. This project will include cutting-edge techniques such as spatial transcriptomics and 3D models of disease and an extension to population genetics in order to dissect genetic and epigenetic dysregulation in CAKUT.
