Explore Research Innovation at UCLA Health
Congenital Heart Defects, Neonatal Heart Maturation, Developmental Genomics.
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.
Dr. Touma’s laboratory employs integrative genomics platforms, including family-based exome/genome/transcriptome sequencing and disease model systems to identify the disease-causal rare genetic variants, and to uncover environment-gene interactions that control chamber specific development and maturation in newborn hearts. These insights will lead to better understanding of the underlying mechanism as well as developing new therapeutic targets for congenital heart defects, with ultimate goal to achieve precision child health in cardiovascular medicine. The current active projects include:
Genetics and Genomics of Congenital Heart Defects
Gene-Environment Regulatory Circuits in Neonatal Heart Chamber
Maturation and congenital Heart Defects.
Genome Regulation by Long noncoding RNAs in Neonatal Heart
Maturation and Congenital Heart Defects.
1. A Path to Implement Precision Child Health Cardiovascular Medicine. Touma M*, Reemtsen B, Halnon N, Alejos J, Finn JP, Nelson SF, Wang Y. Front Cardiovasc Med. 2017 Jun 1;4:36.
Gene-Environment Regulatory Circuits of Right Ventricular Pathology in Tetralogy of Fallot. Zhao Y, Kang X, Gao F, Guzman A, Lau RP, Biniwale R, Wadehra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Van Arsdell G, Coppola G, Nelson SF, Touma M*; UCLA Congenital Heart Defects BioCore Faculty. J Mol Med (Berl). 2019 Dec;97(12):1711-1722.
Ppp1r1b-lncRNA Inhibits PRC2 at Myogenic Regulatory Genes to Promote Cardiac and Skeletal Muscle Development in Mouse and Human. Kang X, Zhao Y, Van Arsdell G, Nelson SF, Touma M*. RNA. 2020 Apr;26(4):481- 491.
PI Contact information: firstname.lastname@example.org Lab Website Link: https://www.uclahealth.org/mattel/touma-lab/