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Fatty Acid Oxidation Disorders

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What are fatty acid oxidation disorders, and why are they related to mitochondrial disorders?

Additional areas of discussion include:

  • Do patients with mitochondrial defects also have the potential to have fatty acid oxidation defects?
  • How do disorders of metabolism such as FAOD and mitochondrial disease impact the body’s ability to grow, develop and function?
  • What is the current focus in research for understanding and treating FAODs?

Special appreciation to Ultragenyx Pharmaceutical for support of this presentation.

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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. 

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