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.
Vernon H, Clark K, Bressler J. "In vitro models to study the blood brain barrier." Methods Mol Bio. 2011;758: 153-168.
Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. "Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria." Mol Genet Metab. 2010 Jul;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." Kidney International. 2005 Sep;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." American Journal of Medical Genetics. 2003 Jul 1;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." American Journal of Medical Genetics. 1999 May 7;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.