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Hilary Joyce Vernon, M.D., Ph.D.
Associate Professor of Pediatrics
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.
Dr. Vernon received her undergraduate degree in biochemistry from University of Pennsylvania. She earned her M.D. from Robert Wood Johnson Medical School/UMDNJ and her Ph.D. from Rutgers University. She completed a combined residency in pediatrics and clinical genetics and a fellowship in clinical laboratory biochemical genetics at Johns Hopkins University. Dr. Vernon joined the faculty at the Kennedy Krieger Institute and at Johns Hopkins University in 2011.
Her research focuses on inborn errors of metabolism, which cause disturbances of mitochondrial function, including Barth Syndrome, methylmalonic acidemia and propionic acidemia. She directs the Barth Syndrome Interdisciplinary clinic at the Kennedy Krieger Institute and is the principal investigator of the first intervential clinial trial in Barth Syndrome. She is also the co-director of the Clinical Trials Unit at the McKusick-Nathans Institute of Genetic Medicine.
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. She is board certified in pediatrics, clinical genetics and clinical biochemical laboratory genetics.
- Associate Professor of Pediatrics
Centers & Institutes
- MD, Rutgers - Robert Wood Johnson Medical School (2004)
- Johns Hopkins University School of Medicine / Pediatrics (2011)
- Johns Hopkins University School of Medicine (2011)
- American Board of Medical Genetics and Genomics / Clinical Biochemical Genetics (2011)
- American Board of Medical Genetics and Genomics / Clinical Genetics / MD (2011)
Research & Publications
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.
Selected PublicationsView 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
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