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Clinicians’ Panel Discussion #2

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Dr. Jerry Vockley, Marie Norris, Dr. Peter McGuire, Dr. Georgianne Arnold, Pamela Lane take questions from the International Metabolic Conference attendees.

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About the Speaker

Dr. Jerry Vockley

Dr. Jerry Vockley

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Geneticspeer-reviewed and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 270 peer reviewed scholarly articles, is the principle investigator on four NIH grants and a co-investigator on 7 others. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

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.

Dr. Peter McGuire

Dr. Peter McGuire

Dr. Peter McGuire received his bachelor's in psychology from Villanova University, a master's in microbiology and immunology from New York Medical College, and a M.B.B.Ch. with honors (equivalent to an M.D.) from the Royal College of Surgeons in Ireland. After completing a combined residency in pediatrics and medical genetics at Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical Genetics and Genzyme. After completing his training, he remained as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.

In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development Program to accelerate his translational research program. He was appointed to the position of tenure track investigator in 2016. Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in immunology and biochemical genetics, he fashioned a translational research program to understand host-pathogen interactions in disorders of mitochondrial metabolism.

His NIH Clinical Center protocols, the NIH MINI Study, is the first organized effort to study viral infection, immune function, and disease progression in patients with disorders of mitochondrial metabolism.

Dr. Georgianne Arnold

Dr. Georgianne Arnold

Dr. Arnold graduated from Indiana University with degrees in Biology and Chemistry. She has a Master’s Degree in Medical Genetics from Indiana University-Purdue University at Indianapolis and graduated from medical school at Upstate Medical Center in New York. She completed a residency in Pediatrics at Northwestern University and a fellowship on Genetics at the University of Colorado. Dr. Arnold is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics.

Previously, Dr. Arnold was faculty at the University of Arkansas and the University of Rochester. She is now Professor of Pediatrics and Clinical Research Director at the University of Pittsburgh Medical Center. Her main interest is clinical research in inborn errors of metabolism. She is currently conducting numerous clinical trials for a variety of metabolic disorders and is the Longitudinal Project Principal Investigator for the national Rare Disease Consortium for phenylketonuria.

Dr. Arnold has authored more than 70 medical publications, and received the Shapira Award for the best publication by a Society for Inherited Metabolic Disorders member in the journal Molecular Genetics and Metabolism for her paper “A Delphi clinical practice protocol for the management of very long-chain acyl-CoA dehydrogenase deficiency.” She has presented papers at numerous national and international meetings and is currently the President of the Society for Inherited Metabolic Disorders.

Pamela Lane

Pamela Lane

Pam received her BSW from East Tennessee State University and her MSW from University of South Carolina. She has been working as a licensed clinical social worker for over 30 years serving children and adults in medical, mental health, and community settings. She has provided trainings for medical staff, school staff, nursing students, and MSW students on numerous topics including families in crisis, complex family systems, child abuse, suicide prevention, crisis intervention, behavioral health, child development and assessment, and professional boundaries. Her experience includes working with individuals and families across the lifespan including preschoolers, school aged children, teens, and adults in mental health services and has provided individual, family, and group therapies. She has been active with community advocacy with training and consultations for families and other community partners.

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Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure
Presented November 15, 2023

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