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Jerry Vockley, MD, PhD
- Division Chief of Medical Genetics at Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center
- Cleveland Family Professor of Pediatric Research at the University of Pittsburgh School of Medicine
- Distinguished Editor, NIH Director’s New Innovator Award Editorial Board
- Associate Editor of Molecular Genetics and Metabolism
Jerry Vockley, MD, PhD is a highly respected thought leader in the field of genetic research as a result of his internationally acclaimed work in medical genetics and inborn errors of metabolism. He has published more than 185 scientific articles in peer-reviewed journals. His laboratory has been responsible for identifying and characterizing the molecular basis of multiple new inborn errors of metabolism. The National Institutes of Health has awarded Dr. Vockley continuous funding to support his important work since 1992.
After receiving his bachelor’s degree in biology at Carnegie-Mellon University, Dr. Vockley went on to receive his medical degree and doctorate in Genetics from the University of Pennsylvania School of Medicine. 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, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.
Dr. Vockley is board-certified in pediatrics, clinical genetics and biochemical/molecular genetics. He has has received numerous honors for his work. His professional and scientific society memberships include the American Society for Clinical Investigation, Society for Inherited Metabolic Disorders, American Society of Human Genetics, American Academy of Pediatrics, American Association for the Advancement of Science and the Society for the Study of Inborn Errors of Metabolism. He is the past president of the Society for Inherited Metabolic Disorders and the International Congress on Inborn Errors of Metabolism.
Selected Publications
- Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. - Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase.
Peters V, Morath M, Mack M, Liesert M, Buckel W, Hoffmann GF, Vockley J, Ghisla S, Zschocke J. - Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex.
Wang Y, Palmfeldt J, Gregersen N, Makhov AM, Conway JF, Wang M, McCalley SP, Basu S, Alharbi H, St Croix C, Calderon MJ, Watkins S, Vockley J. - An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein.
Zhang Y, Mohsen AW, Kochersperger C, Solo K, Schmidt AV, Vockley J, Goetzman ES. - Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias.
McCalley S, Pirman D, Clasquin M, Johnson K, Jin S, Vockley J. - Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ. - Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. - Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington Mice.
Polyzos AA, Lee DY, Datta R, Hauser M, Budworth H, Holt A, Mihalik S, Goldschmidt P, Frankel K, Trego K, Bennett MJ, Vockley J, Xu K, Gratton E, McMurray CT. - Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders.
McCoin CS, Gillingham MB, Knotts TA, Vockley J, Ono-Moore KD, Blackburn ML, Norman JE, Adams SH. - Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. - Phenylketonuria: Current Treatments and Future Developments.
Lichter-Konecki U, Vockley J. - Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C; ENB-010-10 Study Group. - Response to Letter to the editor.
Gillingham MB, Heitner SB, Lasarev MR, Harding CO, Vockley J. - Evolving Trends in Liver Transplant for Metabolic Liver Disease in the United States.
McKiernan PJ, Ganoza A, Squires JE, Squires RH, Vockley J, Mazariegos G, Soltys K, Sun Q, Sindhi R. - Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).
Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. - Diagnosis of ‘possible’ mitochondrial disease: an existential crisis.
Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. - Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. - Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, Wang Y, Wipf P, Van Houten B, Mohsen AW, Vockley J. - Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J. - Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.
Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N.
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