Clinician Panel
July 26 @ 5:00 pm – 6:00 pm
Bring your questions to ask during the Q&A session, or feel free to submit them ahead of time to Stephanie Harry at sharry@mitoaction.org.
About the Speaker
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.
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.
Georgianne Arnold, MD, Phd
Dr. Arnold graduated from Indiana University with degrees in biology and chemistry, and has a Masters degree in Medical Genetics from Indiana University-Purdue University at Indianapolis. She graduated from medical school from 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 VMP Genetics. Dr. Arnold is the past president of the Society for Inherited Metabolic Disorders, and 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 Tucker, DPT, PT
Following her undergraduate studies at Duke University, Pamela Tucker obtained her Doctor of Physical Therapy degree from Franklin Pierce University. Her clinical experience includes the management of outpatient and inpatient rehabilitation of infant, pediatric, and adult populations.
She is a senior Physical Therapist at the Children's Institute of Pittsburgh and UPMC with specialties in pediatric, neurological, vestibular, and concussion interventions. Her research interests include physical therapy interventions for children with inherited metabolic disorders, aquatic physical therapy, concussion management, and robotic-assisted mobility training. Dr. Tucker is currently working on a physical therapy protocol for recovering from rhabdomyolysis.









