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.