Overview

Our lab studies the genetics and biology of ocular diseases with a primary focus on glaucoma and relevant phenotypes. Glaucoma is a heterogeneous group of diseases characterized by death of retinal ganglion cells, specific visual field deficits, and optic nerve degeneration. It is a leading cause of blindness worldwide and affects over 70 million people. The genes and molecular mechanisms contributing to glaucoma are poorly understood. Our goal is to identify genes, molecular mechanisms and cellular networks contributing to glaucoma. Individuals with refractive errors (both myopia or hyperopia) are at a higher risk of developing glaucoma. Another focus of the lab is to understand the role of refractive error in the pathogenesis of glaucoma. Our laboratory employs a variety of multi-disciplinary approaches to dissect the role of complex disease associated genes at a mechanistic level. We have established important mouse models that recapitulate features of the human disease. They provide us the platform to discover new genes/pathways, elucidate the molecular mechanisms, contributing to glaucoma as well as to test hypothesis and new treatment ideas. In parallel, we employ tools of human genetics as a path towards the identification of disease genes.