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Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure

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December 6, 2023 @ 7:00 pm 8:00 pm EST

Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failure. Ms. Norris will discuss the role of ceramides, while addressing the mounting evidence that elevated ceramides contribute to heart failure in humans/rodents and that cardiac function improves with ceramide depletion.

About the Speaker

Marie Norris

Marie Norris

Marie Norris is a metabolic dietitian and doctoral student at the University of Utah investigating the way a lipid, ceramide, contributes to disease pathogenesis in fatty acid oxidation disorders, which is a new and exciting avenue of sphingolipid research. Mounting evidence reveals that elevated ceramides contribute to cardiomyopathy and heart failure in both humans and rodents, and that cardiac function improves with ceramide depletion. The overarching goal of her doctoral research is to identify novel mechanisms by which ceramides contribute to cardiomyopathy pathogenesis and heart failure progression in patients with fatty acid oxidation disorders. Specifically, she critically tests whether ceramides are necessary and sufficient to induce cardiac hypertrophy, fibrosis, apoptosis, and mitochondrial dysfunction in animal models of fatty acid oxidation disorders. She was recently awarded with the University of Utah Graduate Student Travel Award to present her research at the Genetic Metabolic Dietitians International Conference. Prior to starting her PhD, she was a metabolic dietitian at Seattle Children’s Hospital where she carefully crafted complex nutrient prescriptions for each patient based on clinical, biochemical, social, and physical parameters. In this role, she also actively participated in clinical research, published papers outlining nutrition therapy for fatty acid oxidation disorders, published a paper detailing nutrition-specific considerations to make when using Triheptanoin, and published a study of carnitine deficiency among critically ill patients receiving ECMO therapy. With a particular fondness for lipid metabolism, she grew especially passionate about improving care for patients with fatty acid oxidation disorders and decided to pursue a PhD. She is committed to these patients and determined to identify novel therapeutic targets for them.