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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

Jerry Vockley, MD, PhD, FACMG

Jerry Vockley, MD, PhD, FACMG

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his MD and PhD degrees in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the Denver Children’s Hospital, Denver, Colorado, and his postdoctoral fellowship in Human Genetic 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 320 peer reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr.Vockley 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 a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Management (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and 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). He is co-founder and editor of the SIMD North American Metabolic Academy. He provides support for numerous family advocacy groups including MitoAction, the United Mitochondrial Disease Foundation, the National PKU Association, and the Organic Acidemia Association. 

Marie Norris, MS, RDN, CD, CNSC, PhD

Marie Norris, MS, RDN, CD, CNSC, PhD

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.

Peter McGuire, MS, MMBCh

Peter McGuire, MS, MMBCh

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.

Georgianne Arnold, MD, Phd

Georgianne Arnold, MD, Phd

Dr. Arnold graduated from Indiana University with degrees in biology and chemistry and has a Master's degree in Medical Genetics from Indiana University-Purdue University in Indianapolis. She graduated from medical school at Upstate Medical University and completed a residency in Pediatrics at Northwestern University. Her genetics training was at the University of Colorado, and she is boarded in Clinical Biochemical Genetics and Clinical Genetics.

Dr. Arnold was Clinical Director and, most recently, Clinical Research Director at the University of Pittsburgh. She is an Emeritus Professor and a consultant with Virtual Medical Practice. Dr. Arnold is the past president of the Society for Inherited Metabolic Disorders and the recipient of the Shapira Award for the best member’s paper in Molecular Genetics and Metabolism. She has a long-standing interest in fatty acid oxidation disorders, working with Dr. Vockley for 13 Years.

Pamela Lane, MSW, LCSW

Pamela Lane, MSW, LCSW

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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