Dr. Touma is a physician scientist specialized in Neonatal-Perinatal Medicine and Developmental Genomics in the context of neonatal/congenital heart defects. She is the lead investigator of the UCLA Congenital Heart Defects (CHD) Research Program and the founder and principal investigator of the Neonatal/Congenital Heart Laboratory and the BioCore for Congenital Heart Defects at UCLA, which serves as a hub for basic science discoveries and translational applications in collaboration with the UCLA Institute of Precision Health and the Cardiovascular Theme.
Dr. Touma performed the first genome-wide analysis of chamber specific transcriptome in neonatal murine heart. She discovered numerous novel regulatory long noncoding RNAs, and identified their orthologs in human CHD hearts. She and her team, which include medical students and research trainees, have elucidated the mechanisms by which a novel lncRNA-PPP1R1B regulates myogenic differentiation of cardiac and skeletal myocytes using human iPSCs derived cardiomyocytes. They have also discovered a novel gene-environment regulatory circuit, involving Wnt11 signaling and hypoxia, which dictates neonatal heart chamber maturation. A recent discovery by the team is the identification of a causal gene related to ciliopathy in a rare form of congenital cardiomyopathy.