Jablonski Receives Renewal of NIH R01 grant on Genetic Modulators of Glaucoma

Monica Jablonski, PhD, Professor in the Department of Ophthalmology and Associate Dean of the Graduate School has received a renewal of her NIH grant, “Genetic Modulators of Glaucoma.” The grant is for four years and is for $1,535,975 over the course of the grant.

“We propose to continue to use the BXD (C57BL/6 x DBA/2J) family of recombinant inbred (RI) lines of mice as a genetic reference panel (GRP) and to combine our work with human genome wide association studies (GWAS) to uncover and clarify the genetic heterogeneity that underlies optic nerve (ON) damage’, Jablonski says. “We have had success using this combined approach in the regulation of intraocular pressure (IOP), and we are well positioned to take the next step and apply this approach to define cellular targets of RGC damage and death.”

Jablonski notes that the glaucoma research that she and other researchers around the country are doing is very important “Glaucoma is the leading cause of irreversible blindness in the world. A thorough understanding of this disease is a major challenge because its genetic basis is heterogeneous, and it likely represents a family of disorders resulting from intersecting gene-regulated pathophysiologic pathways,” she says. “I have a fabulous team of investigators from around the world who are working with us on this project.” 

Jablonski and her team propose to uncover phenotypic diversities of glaucoma-related ON damage and uncover common underlying mechanisms that are shared with IOP modulation. The long-term research goal is to identify disease mechanisms and develop neuroprotective therapies to preserve retinal health in patients at risk for glaucoma. Jablonski states that the overall objective is to identify novel gene products and related mechanisms that lead to

glaucomatous endophenotypes using multi-dimensional genetic analyses, cross-species comparisons (mouse, rat and human) and validation using novel murine glaucoma models. In being awarded the renewal, Jablonski believes that the combination of cutting-edge systems genetics methods, species comparisons of glaucoma phenotypes, and a strong interdisciplinary team of investigators with extensive experience in systems genetics, glaucoma, GWAS in human and rats, and advanced computational methods contributed to the additional funding by NIH.