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

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. 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 co-founder and co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (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 Nationaal PKU Association, and the Organic Acidemia Association. 

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

Verma A, Lehman AN, Gokcan H, Cropcho L, Black D, Dobrowolski SF, Vockley J, Bedoyan JK. (2023). Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism. Mol Genet Genomic Med. e2283. .

Vianey-Saban C, Fouilhoux A, Vockley J, Acquaviva-Bourdain C, Guffon N. (2023). Improving diagnosis of mitochondrial fatty-acid oxidation disorders. Eur J Hum Genet. 31: 265-72. PMC9995306.

Vockley J, Aartsma-Rus A, Cohen JL, Cowsert LM, Howell RR, Yu TW, Wasserstein MP, Defay T. (2023). Whole-genome sequencing holds the key to the success of gene-targeted therapies. Am J Med Genet C Semin Med Genet. 193: 19-29.

Vockley J, Brunetti-Pierri N, Chung WK, Clarke AJ, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. (2023). The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. Genet Med. 25: 100022.

Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N. (2023). Challenges and strategies for clinical trials in propionic and methylmalonic acidemias. Mol Genet Metab. 139: 107612.

Vockley J, Burton BK, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman KA, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Rahman S, Ray K, Reineking B, Pisani L, Ramirez AN. (2023). Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. J Inherit Metab Dis. 46: 943-55.

Vockley J, Defay T, Goldenberg AJ, Gaviglio AM. (2023). Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease. Am J Med Genet C Semin Med Genet. 193: 77-86. PMC10038858.

Vockley J, Sondheimer N, Puurunen M, Diaz G, Ginevic I, Grange K, Harding C, Northrup H, Phillips J, Searle S, Thomas J, Zori R, Denney W, Ernst S, Humphreys K, McWhorter N, Kurtz C, Brennan A. (2023). Efficacy and Safety of a Synthetic Biotic for Treatment of Phenylketonuria. Nature Metabolism. Accepted for Publication:

Wang H, Lu J, Stevens T, Roberts A, Mandel J, Avula R, Ma B, Wu Y, Wang J, Land CV, Finkel T, Vockley J, Airik M, Airik R, Muzumdar R, Gong Z, Torbenson MS, Prochownik EV. (2023). Premature aging and reduced cancer incidence associated with near-complete body-wide Myc inactivation. Cell Rep. 42: 112830. .
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Aliu E, Shi H, Basu S, Kochersperger C, Van't Land C, Karunanidhi A, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, Giangrande PH, Martini PGV, Vockley J. (2023). Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model. Mol Genet Metab. 138: 106982. PMC9877169.

View MyNCBI Bibliography » 

Academic and Research Interests

  • Fatty Acid Oxidation
  • Inborn Errors of Metabolism
  • Genomic Medicine
  • Newborn Screening
  • Mitochondrial Energy Metabolism
  • Oxidative phosphorylation
  • Very long chain acyl-CoA dehydrogenase deficency
  • Branched chain amino acid metabolism
  • Isovaleryl-CoA dehydrogenase
  • Isovaleric acidemia
  • Acyl-CoA dehydrogenases

Research Grants

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

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

 

5R01DK109907-06, Characterization of Branched Chain Amino Acid Metabolism and Its Deficiency, 2016-2025. 

5R01DK117916-03, Hepatocyte Transplantation for Liver-Based Metabolic Disease, 2018-2024. 

ALX-HPP-501/18581, An Observational, Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia, 2015-2024. 

R01 HD105994, Metabolic Engineering for Management of PAH Deficient PKU Osteopenia, 2022-2027. 

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