A mega-analysis led by Joan O’Brien, MD, Rebecca Salowe, MSE, Shefali Setia Verma, PhD, and Marylyn Ritchie, PhD, at Penn Medicine—involving over 11,200 people of African ancestry—was published in 2024, identifying three gene variants associated with glaucoma. Published in the prestigious journal Cell, the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study highlights the importance of diversity in genetic research and aims to fill knowledge gaps and guide clinical decisions for a group particularly vulnerable to developing glaucoma.
From Joan O’Brien, MD: “We are sharing our genetic database with other researchers across departments and schools that are studying diseases that over-affect African-ancestry populations. These collaborations are resulting in much more research on the health of an historically understudied population.”
From Rebecca Salowe, MSE: "Glaucoma is a highly familial disease, so premature and irreversible vision loss can affect multiple family members, contributing both to adverse health and economic outcomes. With current treatments for glaucoma having limited success, there is an urgent need for large genetic studies to identify novel targets for screening and therapeutic intervention in African ancestry individuals.”
From Shefali Setia Verma, PhD: "This work highlights the essential role of diversity in genetic research. Without our focus on this specific ancestry group, these unique and critical insights might have remained lost, and we would not have been able to substantially enhance our understanding of the genetics behind primary open-angle glaucoma in this overaffected population."
From Marylyn Ritchie, PhD: “To enhance our work, we were able to identify patients in the Penn Medicine BioBank with glaucoma to validate the genetic effects we gleaned from the initial cohort we analyzed. Without that resource, it would have been much more difficult to produce such strong work.”
Read more at Penn Medicine's “Mega-analysis identifies gene variants associated with glaucoma in people of African ancestry."
Explore the numerous articles on the POAAGG team’s work—from the Philadelphia Inquirer to Ophthalmology Times.
By Maressa Park