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- B.A. University of Pennsylvania, 1998
- Ph.D. Rutgers University, 2004
- M.D. Robert Wood Johnson Medical School, UMDNJ, 2004
In many inborn errors of metabolism, the primary enzymatic defect is known, but the secondary consequences on cellular biochemistry are not well understood. Since treatment in these disorders often involves compensating for biochemical defects through nutritional and cofactor supplementation, understanding these secondary consequences are crucial in developing more successful clinical interventions. My laboratory is taking both a metabolic and molecular approach towards understanding how a single enzymatic defect causes a biochemical “ripple-effect” throughout the cell.
My 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.
Barth syndrome is a rare, X-linked recessive disorder of lipid metabolism. Patients with Barth syndrome have low muscle tone, dilated cardiomyopathy, immune deficiency due to neutropenia, muscle weakness, and short stature. Barth Syndrome is caused by mutations in the TAZ gene, which leads to decreased production of an enzyme required for the synthesis of cardiolipin, a structural mitochondrial lipid. There is currently no specific treatment for Barth syndrome.
Organic acidemias are individually rare, but collectively have a large impact on childhood health. Three such diseases of amino acid metabolism, glutaric aciduria type 1, methylmalonic aciduria and propionic acidemia generally cause severe morbidity and mortality from complications such as brain infarction most often located in the basal ganglia and pancreatitis. While the primary biochemical defects underlying these diseases are understood, the molecular events leading to acute clinical events are not known, and there have been few novel advances in treatment in the past several years.
We use 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. We are also using cell culture and animal based models in identifying molecular and metabolic markers.
In addition to my research pursuits at the McKusick-Nathans Institute of Genetic Medicine, I am a clinical biochemical geneticist at the Kennedy Krieger Biochemical Genetics Laboratory and at the Kennedy Krieger Neurogenetics Clinic
- Molecular and metabolic pathogenesis of organic acidemias
- Molecular and metabolic pathogenesis of Barth Syndrome
- Clinical laboratory biochemical diagnosis
- Member, The American Society for Human Genetics 1996-present
- Diplomate, American Board of Pediatrics, 2009-present
- 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
Vernon H, Clark K, Bressler J. In vitro models to study the blood brain barrier. (2011) Methods Mol Bio 578: 153-168.
Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. (2010) Mol Genet Metab 100(3):229-33.
Vernon H, Osborne C, Tzortzaki E, Yang M, Chen J, Rittling S, Denhardt D, Buyske S, Bledsoe S, Evan A, Fairbanks L, Simmonds H, Tischfield J, Sahota A: Aprt/Opn double knockout mice: Osteopontin is a Modifier of Kidney Stone Disease Severity. (2005) Kidney International 68(3): 938-947.
Tinkel-Vernon H. Finkernagel S, Desposito F, Pittore C, Reynolds K, Sciorra L: Patient With a Deletion of Chromosome 21q and Minimal Phenotype. (2003) American Journal of Medical Genetics, 120: 142-143.
Krantz I, Smith R, Colliton R, Tinkel H., Zackai E, Piccoli D, Goldmuntz E, Spinner N: Jagged1 Mutations in Patients Ascertained with Isolated Congenital Heart Defects. (1999) the American Journal of Medical Genetics, 84 (1): 56-60.
Vernon, H. “Dysmorphology”. Oski’s Pediatric Certification and Recertification Board Review. Eds. Coombs and Kirk. Lippincott Williams & Wilkins. 2010.
Vernon, H. “Metabolism”. Oski’s Pediatric Certification and Recertification Board Review. Eds. Coombs and Kirk. Lippincott Williams & Wilkins. 2010.
Tinkel-Vernon, H. “Allergy and Immunology”. The Harriet Lane Handbook, 18th ed. Eds. Rau and Custer. Philadelphia, PA. 2009.
Tinkel-Vernon, H. “Human Genetics and Development”. First Aid for the Pediatric Boards, 2nd ed. Eds: Le, Shroeder, Lam, Vera, Rabizadeh. New York, NY 2009.
Hilary Vernon, M.D., Ph.D.
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine
Broadway Research Building, Room 510
733 N. Broadway St.
Baltimore, MD 21205