Novel Genetic Mouse Model of Early-Onset Glaucoma
Blinding diseases affecting children and young adults are mainly caused by defective genes, which are typically passed on from parent to their children. Our mission is to identify the culprit gene and find out how they act to cause blindness. The completion of this project will help us move forwards towards finding solutions to control and manage the disease.
We have characterized a mouse model of glaucoma that recapitulates features of early-onset glaucoma in humans. Mouse studies provide an important extension to human studies that allows detailed mechanistic understanding. Findings from the proposed studies will lead to a better understanding of the molecular mechanisms contributing to elevated intraocular pressure, a major risk factor for glaucoma. Importantly, it has potential to provide us with a robust new genetic mouse model to study glaucomatous neurodegeneration, which is much needed to advance glaucoma research. Uncovering the molecular basis of a disease is key to development of therapeutic intervention(s) to prevent/slow down glaucoma progression.
About the Researcher
Dr. Nair received PhD in Biochemistry from the University of Mumbai, India. During his postdoctoral training at The Jackson Laboratory, Dr. Nair characterized both spontaneous and chemically induced mouse mutants that recapitulate features of human glaucoma. Dr. Nair joined the Department of Ophthalmology at UCSF , where his laboratory studies the molecular mechanisms contributing to ocular diseases with a major focus on glaucoma. They employ a multi-disciplinary approach by integrating the use of human and mouse genetics, genomics, animal models, molecular and cell-biology, and physiology based experiments to gain mechanistic insight into the pathogenesis of glaucoma relevant phenotypes.
Our long-term goal is to functionally validate candidate glaucoma genes identified through genetic linkage and association studies (both rare and common variants) and to uncover the underlying pathogenic processes. Understanding the contributions of genes and pathways are critical for defining the mechanisms underlying elevated intraocular pressure and glaucoma. We greatly appreciate the funding from the BrightFocus Foundation, which will help transform the understanding of glaucoma in order to have a greater impact on the vision of glaucoma patients here in the US and around the world.
First published on: July 3, 2019
Last modified on: November 13, 2019