Clinician Panel

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.

Jessica Gold, MD, PhD

Dr. Jessica Gold is a medical geneticist trained in pediatrics and internal medicine. Both her clinical work and research is dedicated to helping adolescents and young adults with inherited metabolic disorders prepare for adulthood. For many young people, puberty and reproductive health are important milestones in emerging adulthood. Yet, clinicians lack information on these topics for people with FAODs, which impacts their ability to provide guidance. This project is the first step in learning how people with FAODs approach puberty and reproductive health. The roundtable discussions will be an opportunity for people with FAODs or their parents/caregivers to share their experiences with puberty and reproductive health so we can improve healthcare for adolescents and adults with FAODs.

Elizabeth Ames, MD, PhD

Dr. Elizabeth Ames completed her undergraduate degree at the University of Minnesota in Genetics, Cell Biology and Development. She then completed an MD/PhD at the University of Virginia. Her interest in genetics began during her PhD while studying RNA processing in fetal heart development. She then moved to the University of Michigan to complete a combined residency in both Pediatrics and Medical Genetics. After residency, she completed a fellowship in Medical Biochemical Genetics. She has remained at the University of Michigan as a clinical assistant professor in the departments of Pediatrics and Internal Medicine where she sees patients of all ages. Her clinical interests include novel therapies for inborn errors of metabolism, RASopathies, and neuromuscular conditions.

Amanda Pritchard, MD

Dr. Amanda Barone Pritchard is an Assistant Professor of Pediatrics at University of Michigan Health in the division of Pediatric Genetics, Metabolism, and Genomic Medicine. Dr. Pritchard attended the University of Pittsburgh School of Medicine before completing Pediatric Residency at Lurie Children’s Hospital in Chicago. She then trained in Medical Genetics and Genomics and completed a Medical Biochemical Genetics fellowship at the Children’s Hospital of Philadelphia. She currently practices pediatric genetics and biochemical genetics, and has research interests in delineation of new genetic disorders and treatment of genetic diseases. She has been involved in several clinical trials for inborn errors of metabolism. Dr. Pritchard is also an enthusiastic medical educator and serves as Program Director for the Medical Biochemical Genetics Fellowship and Associate Program Director for the Medical Genetics and Genomics and Combined Pediatrics-Medical Genetics and Genomics Residency Programs at the University of Michigan.