Journal of Clinical and Experimental Ophthalmology
Open Access

Genetic analysis of families with Schnyder corneal dystrophy identifies UBIAD1, an enzyme producing endogenous vitamin K, which interacts with enzymes regulating cholesterol synthesis and storage

4^th International Conference on Clinical & Experimental Ophthalmology

July 14-16, 2014 DoubleTree by Hilton Baltimore-BWI Airport, USA

Michael L. Nickerson

Scientific Tracks Abstracts: J Clin Exp Ophthalmol

Abstract :

Xueting Jin obtained her M.D. from the Medical Center of Fudan University, Shanghai, and qualified as a physician in 2012. During medical school, she participated in several research projects, mainly focused on the mechanism of atherosclerosis. She is currently a postdoctoral fellow at the National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland. Her research interests include disorders of cholesterol metabolism, focused on Schnyder corneal dystrophy and atherosclerosi

Biography :

Michael L. Nickerson obtained a Ph.D. in Molecular Medicine from the George Washington University and has made significant contributions to the identification of disease genes, including the Birt-Hogg-Dubé gene in chromophobe kidney cancer, the dead-end gene in testicular cancer, the fumaratehydratase gene in leiomyomatosis and papillary kidney cancer,andthe UBIAD1 gene in Schnyder Corneal Dystrophy (SCD). He has applied exome sequencing of tumor genomes to identify TET2 alterations in prostate cancer and BAP1 and CHD1 mutations in bladder cancer. UBIAD1 mutations in over 50 SCD families, and enzyme structure, function, and binding partners have been published.