Hilary J. Vernon, MD, PhD

Primary Academic Title

Professor of Genetic Medicine

Background

Centers and Institutes

McKusick-Nathans Institute of Genetic Medicine

Clinical Trials Summary

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

Find a Clinical Trial

Additional Academic Titles

Professor of Pediatrics

Contact for Research Inquiries

733 North Broadway
MRB 529
Baltimore, MD 21036

Research Interests

Clinical laboratory biochemical diagnosis, Molecular and metabolic pathogenesis of Barth Syndrome, Molecular and metabolic pathogenesis of organic acidemias

Lab Website

The Vernon Lab for Translational Mitochondrial Medicine - Lab Website

• Dr. Vernon's Laboratory at the Department of Genetic Medicine develops and studies cellular models of mitochondrial disorders to understand their biological basis and to find new targets for therapeutic intervention.

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.

PubMed - Publications

http://www.ncbi.nlm.nih.gov/pubmed/?term=Vernon%20HJ%5BAuthor%5D&cauthor=true&cauthor_uid=25851414

Selected Publications

• 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.

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

• 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.

• 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.

Honors

• James B. Sidbury, Jr. Fellowship in Biochemical Genetics, Johns Hopkins University, 1/1/11
• Francis F. Schwentker Award for Excellence in Research, Johns Hopkins University, 1/1/10
• Chief resident of medical genetics, Institute of Genetic Medicine, Johns Hopkins University, 1/1/10
• Margaret Nielsen Fellowship in Genetic Medicine, Johns Hopkins Institute of Genetic Medicine, 1/1/07

Memberships

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