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Energy in Action Podcast Episode 151: Hope for FAOD Patients Through Research

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In this episode of Energy in Action, host Marcy Young speaks with Dr. Gillingham about the journey that led her from clinical dietetics into FAOD research, the impact of meeting one young patient with LCHAD early in her training, and the deeply personal connection she maintains with families affected by these rare diseases.

EPISODE HIGHLIGHTS

Dr. Melanie Gillingham is a professor of molecular and medical genetics at Oregon Health & Science University and one of the leading researchers in fatty acid oxidation disordersA group of genetic conditions that affect how the body breaks down fats to make energy. (FAODs). In this episode of Energy in Action, host Marcy Young speaks with Dr. Gillingham about the journey that led her from clinical dietetics into FAOD research, the impact of meeting one young patient with LCHAD early in her training, and the deeply personal connection she maintains with families affected by these rare diseases.

They discuss the results of a five-year natural history studyA type of medical research study in which researchers examine how a disease or medical condition develops over time. on LCHAD retinopathy, why puberty may be a turning point in vision decline, and how new preclinical models—from iPSC-derived retinal cells to animal studies—are driving progress toward future treatments. Dr. Gillingham also explains why nutrition research is still so limited in mitochondrialRelated to the mitochondria. disease, how new advances in precision nutrition might change that, and what’s next in her ambitious plan to launch a national FAOD Consortium. From patient-inspired breakthroughs to surprise stories of regained mobility, this episode is a powerful reminder that real hope is rooted in rigorous science—and in the people who never stop asking what’s possible.

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energy in action, faod, LCHAD retinopathy, podcast

About the Speaker

Melanie Gillingham, PhD, RD, LD

Melanie Gillingham, PhD, RD, LD

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders.

In 2014, a group of FAO researchers, under the leadership of Dr. Jerry Vockley, founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). Dr. Gillingham participates on the organizing committee of INFORM.

Dr. Vockley and Dr. Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham is currently conducting a larger natural history study of LCHAD retinopathy.

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