Marlin Touma, M.D., Ph.D.

Congenital heart defects, or CHDs, are the most common birth defects, affecting approximately 1% of live births and contributing significantly to infant morbidity and mortality. Despite their prevalence, the underlying causes remain poorly understood. To address this unmet need, Touma uses genomics platforms, patient-derived induced pluripotent stem cells and disease model systems, uncovering how genetic variants and non-coding RNAs influence neonatal heart development.  

One key area of focus is the identification of gene-environment regulatory circuits that contribute to the formation and specialization of heart chambers, which may be disrupted in infants with CHDs. Her unique and well-characterized CHD cohort allows for comprehensive and systems-based investigations to elucidate the mechanisms of CHDs, improve the diagnostic yield of genomics platforms and ultimately develop targeted therapies.

Touma leads the UCLA Congenital Heart Defect BioCore, a central research portal that integrates genomics, systems biology and clinical data to study CHDs at multiple levels — from genetic discovery to patient outcomes. This work, conducted in partnership with our center, the Children’s Discovery Institute and the Cardiovascular Theme, brings together experts across fields to translate scientific discoveries into meaningful clinical advancements.