Peter is currently a cardiology fellow and PhD candidate in Molecular, Cellular and Integrative Physiology at the UCLA. As part of the Specialty Training and Advanced Research (STAR) program, he used a multiscale approach to create a comprehensive atlas of how the cardiac autonomic nervous system controls the heartbeat.
The future of cardiovascular medicine is here at UCLA, because we have a team of investigators that are fully committed - from the level of clinical care, through discovery science and engineering, to community outreach, and to educating the next generation.
While cardiovascular calcification is associated with a higher risk of cardiac events, whether modifying calcification improves outcomes is unclear. New studies show that using fused micro-PET/CT imaging in mice allows researchers to better understand how cardiovascular calcification responds to interventions, such as endurance exercise and parathyroid hormone therapy.
Primary Endocardial Fibroelastosis (pEFE) is a chamber specific congenital heart disease that manifests early after birth with profound left ventricular failure requiring heart transplantation within the first year of life. To date, pEFE diagnosis is solely based on pathological examination of the explanted heart. No medical treatment has been effective and heart transplantation is often the only option.
To elucidate the molecular genetic mechanisms of this disease entity, Dr. Touma and her team in the Neonatal/Congenital Heart Laboratory employed integrative genomic analysis of whole exome sequencing and RNA-seq. They also utilized patient-derived cells and explanted heart specimens to identify potential causal genetic variants. For the first time, they report novel contribution of ciliopathy genes to pEFE etiology. Specifically, the team discovered that a novel rare recessive variant in ALMS1 gene underlies the unique pEFE phenotype. Mutations in ALMS1 are known causal of Alstrom Syndrome, a well-recognized ciliopathy. Remarkably, Dr Touma’s team provided the first evidence linking pEFE to Alstrom Syndrome and demonstrated that the mechanism leading to this mysterious and incurable form of CHDs involves the induction of epithelial mesenchymal transition process in cardiac fibroblasts, potentially mediated by TGFβ signaling activation.
By generating patient-derived human induced pluripotent stem cells (hiPSCs), Dr. Touma and her colleagues have established a system for early perinatal diagnosis of ALMS1 variants and set up a pipeline for high throughput screening of novel therapeutic targets for pEFE revealed from their study.
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