Jerry Vockley, MD, PhD, FACMG

  • Division Director, Genetic and Genomic Medicine, Cleveland Family Endowed Chair in Pediatric Research, Professor of Pediatrics and Human Genetics, and Director, Center for Rare Disease Therapy

Administrative Assistant: Brianna Karp Sokol

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 Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. 

Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His lab has been responsible for identifying multiple new genetic disorders, many of them defects in mitochondrial energy metabolism, and he has published nearly 300 scientific articles in peer review journals. His current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease, and branced chain amino acid metabolism. He also is a leader in the development and testing of novel therapeutic agents for treating inborn errors of metabolism. He is the principle investigator on four NIH grants and a co-investigator on seven others. He holds multiple United States and international patents and has had two drugs for treatment of metabolic disorders approved by the FDA. He is the founder of the Plain Communities Translational Medicine program at UPMC Children’s Hospital of Pittsburgh. He received a UPMC Wolff Center Award for Excellence in Patient Experience in 2017.

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 is past chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics and Genomics Therapeutics Committee. He recently joined the Board of Directors for the American College of Medical Genetics and Genomics. 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). He is also a volunteer medical advisor for several parent and family support groups including the Fatty Acid Oxidation Family Support Group, Save Babies through Screening, United Mitochondrial Disease Foundation, and the Organic Acidemia Support Group. He speaks at multiple family support functions throughout the year for CanPKU and the NPKU Alliance. He was recognized as a Champion for Babies by the March of Dimes in 2015.

Vockley is the co-founder and director of the North American Metabolic Academy established by the SIMD to help educate the next generation of metabolic physicians in the United States, and serves as associate editor for the journal Molecular Genetics and Metabolism. He is founder of the International Network on Fatty Acid Oxidation Research and Management (INFORM). He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. Vockley was recognized in 2002 as the Research Educator of the Year while at the Mayo Clinic, and received University Faculty Honors for his educational efforts in 2014. At the University of Pittsburgh, Vockley teaches in the both the Medical School and Graduate School of Public Health. Vockley has mentored numerous PhD candidates, postdoctoral fellows, and undergraduates in their research. 

Professional and Scientific Society Membership

  • American College of Medical Genetics
  • American College of Pediatrics
  • American Society for Clinical Investigation
  • Society for Inherited Metabolic Disorders
    • Board of Directors (1999-Present)
    • President-Elect (2003-2004)
    • President (2005-2007)
  • American Society of Human Genetics
  • American Academy of Pediatrics
  • American Association for the Advancement of Science
  • Society for the Study of Inborn Errors of Metabolism
  • International Network for Fatty Acid Oxidation and Research
  • Association for Clinical Translational Science

Education & Training

  • BS, Biology, Carnegie Mellon University, 1978
  • MD, University of Pennsylvania School of Medicine, 1984
  • PhD, University of Pennsylvania School of Medicine, 1984
  • Internship and Residency in Pediatrics, University of Colorado Health Science Center, 1984-1987
  • Fellowship in Pediatrics and Human Genetics, Yale University School of Medicine, 1987-1991

Selected Publications

Academic and Research Interests

  • Energy metabolism
  • Fatty acid oxidation
  • Amino acid metabolism
  • Acyl-CoA dehydrogenase
  • Very long chain acyl-CoA dehydrogenase
  • Isovaleryl-CoA dehydrogenase
  • PKU
  • Branched chain amino acid metabolism
  • Whole genome sequencing
  • Newborn screening
  • Mitochondria

Research Grants

NIH U54NS078059, North American Mitochondrial Disease Consortium (PI: Hirano), 2012-2024, $1,967

NIH R01DK117916, Hepatocyte Transplantation for Liver-Based Metabolic Disease (PI: Fox/Vockley), 2017-2022, $685,236

Ultragenyx Pharmaceuticals, Dietary Therapy for Inherited Disorders of Energy Metabolism (PI: Vockley), 2013-2021, $52,871

Richard King Mellon Foundation, Precision Medicine Implementation and Commercialization (PI: Lee), 2019-2022, $134,365

LogicBio, A Retrospective Study (Critical Evaluation) of the Key Aspects of the Disease Course and Clinical Outcomes Under Current Therapies in Pediatric Patients with Severe Methylmalonic Acidemia (MMA) Characterized by MMUT Mutations (PI: Vockley), 2020-2022, $35,429

NIH U54NS115198, Rare disease research network: Congenital disorders of glycosylation (PI: Eva Morava-Kozicz), 2019-2024, $95,485

NIH U54NS115198, The Natural History of LCHAD Retinopathy (PI: Melanie Gillingham), 2019-2023, $182,985

NIH U01TR002271, Precision Medicine in the Diagnosis of Genetic Disorders in Neonates (PI: Jonathan Davis), 2018-2023, $282,311

Aeglea, PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency (PI: Vockley), 2020-2022, $54,000

BioMarin, A Prospective Clinical Study of Phenylketonuria (PKU) (PI: Vockley), 2020-2022, $204,377