Hilary Joyce Vernon, M.D., Ph.D.

Headshot of Hilary Joyce Vernon
  • Associate Professor of Genetic Medicine

Languages: English, Spanish



Research Interests

Molecular and metabolic pathogenesis of organic acidemias; Molecular and metabolic pathogenesis of Barth Syndrome; Clinical laboratory biochemical diagnosis ...read more


Dr. Hilary Vernon is an Associate Professor of pediatrics at the McKusick Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute.

Hilary Vernon is an associate professor of genetic medicine and a medical biochemical geneticist with expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University.

Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University.

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  • Associate Professor of Genetic Medicine
  • Associate Professor of Pediatrics

Departments / Divisions

Centers & Institutes



  • MD; Rutgers Robert Wood Johnson Medical School (2004)


  • Pediatric Genetics; Johns Hopkins University School of Medicine (2010)


  • Biochemical Genetics; Johns Hopkins University School of Medicine (2011)

Board Certifications

  • American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics) (2011)
  • American Board of Medical Genetics and Genomics (Clinical Genetics and Genomics (MD)) (2022)
  • American Board of Pediatrics (Pediatrics) (2009)

Research & Publications

Research Summary

Dr. Vernon's current area of study is in inborn errors of metabolism, which cause disturbances of mitochondrial function, including several different organic acidemias and Barth Syndrome. These are rare disorders, each with an approximate incidence of 1/50,000 - 1/250,000. They have an onset in childhood and a devastating effect on health and quality of life.

Dr. Vernon's lab uses a mass spectrometry-based metabolomics approach to create metabolic profiles of these disorders and select promising analytes from these profiles as potential treatment targets for further study. She is also using cell culture and animal-based models in identifying molecular and metabolic markers.

Clinical Trials

NCT03098797 A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome

Selected Publications

View all on PubMed

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. Mol Genet Metab. 2018 Jul;124(3):204-209.

Vernon H, Cohen J, De Nittis P, Fatemi A, McClellan R, Goldstein A, Malerba N, Guex N, Reymond A, Merla G. Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. Clin Genet. 2018 Jun;93(6):1254-1256.

Sandlers Y, Mercier K, Pathmasiri W, Carlson J, McRitchie S, Sumner S, Vernon HJ. Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. PLoS One. 2016 Mar 25;11(3):e0151802

Thompson WR, DeCroes B, McClellan R, Rubens J, Vaz FM, Kristaponis K, Avramopoulos D, Vernon HJ. New targets for monitoring and therapy in Barth syndrome. Genet Med. 2016 Oct;18(10):1001-10.

Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical laboratory studies in Barth Syndrome. Mol Genet Metab. 2014 Jun;112(2):143-7

Contact for Research Inquiries

McKusick-Nathans Institute of Genetic Medicine
733 North Broadway
MRB 529
Baltimore, MD 21036 map

Activities & Honors


  • James B. Sidbury, Jr. Fellowship in Biochemical Genetics, Johns Hopkins University, 2011
  • Francis F. Schwentker Award for Excellence in Research, Johns Hopkins University, 2010
  • Chief resident of medical genetics, Institute of Genetic Medicine, Johns Hopkins University, 2010 - 2011
  • Margaret Nielsen Fellowship in Genetic Medicine, Johns Hopkins Institute of Genetic Medicine, 2007


  • Diplomate, American Board of Pediatrics, 2009
  • Member, The American Society for Human Genetics, 1996
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