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John A. Bernat, MD, PhD

Clinical Associate Professor

Current Positions

  • Clinical Associate Professor, Stead Family Department of Pediatrics, Division of Medical Genetics & Genomics
  • Medical Director, Child Health Specialty Clinics, Stead Family Department of Pediatrics, Division of Child and Community Health
  • Associate Program Director, Medical Genetics and Genomics Residency Program

Education

  • BA in Biochemistry and Molecular Biology, Washington University in St. Louis, St Louis, Missouri
  • MD with Distinction in Research, University of Michigan, Ann Arbor, Michigan
  • PhD in Human Genetics, University of Michigan, Ann Arbor, Michigan
  • Residency in Pediatrics, University of Michigan Hospitals and Health Centers, Ann Arbor, Michigan
  • Residency in Medical Genetics and Genomics, University of Michigan Hospitals and Health Centers, Ann Arbor, Michigan
  • Fellowship in Clinical Molecular Genetics and Genomics, University of Michigan, Ann Arbor, Michigan

Research Interests

  • Natural history of lysosomal disorders (e.g. Fabry disease, Gaucher disease, Pompe disease)
  • New therapeutics for lysosomal disorders (e.g. Fabry disease, Gaucher disease, metachromatic leukodystrophy, mucopolysacchridoses), including enzyme replacement therapies, substrate reduction therapies, and in vivo and ex vivo gene therapies
  • Newborn screening for lysosomal disorders

Licenses & Certifications

  • Board Certified, Clinical Molecular Genetics and Genomics, American Board of Medical Genetics and Genomics
  • Board Certified, Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics
  • Physician License, Iowa Board of Medicine
  • Board Certified, Pediatrics, American Board of Pediatrics

Selected Publications

  • Holida M, Linhart A, Pisani A, Longo N, Eyskens F, Goker-Alpan O, Wallace E, Deegan P, Tøndel C, Feldt-Rasmussen U, Hughes D, Sakov A, Rocco R, Almon EB, Alon S, Chertkoff R, Warnock DG, Waldek S, Wilcox WR, Bernat JA. A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies. J Inherit Metab Dis. 2025 Jan;48(1):e12795. doi: 10.1002/jimd.12795. Epub 2024 Oct 9.
  • Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1.
  • Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. J Med Genet. 2024 May 21;61(6):520-530.
  • Hughes D, Gonzalez D, Maegawa G, Bernat JA, Holida M, Giraldo P, Atta MG, Chertkoff R, Alon S, Almon EB, Rocco R, Goker-Alpan O. Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease. Genet Med. 2023 Dec;25(12):100968.
  • Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022 May;136(1):4-21.
  • Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatr Res. 2020 Mar;87(4):735-739.