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The Genetic Drivers of Familial Glaucoma
Unlocking the secrets of eye diseases with genetic origins is a top research priority at Kellogg. Among the rising stars in this field is William Presley, whose work garnered accolades and major grant support in 2024.
A Ph.D. candidate in human genetics, Presley works in the lab of Lev Prasov, M.D., Ph.D. One of his current projects focuses on understanding the genetic basis of treatment-resistant normal-tension glaucoma (NTG).
Presley has received the National Eye Institute’s 2024 Ruth L. Kirschstein National Research Service Award / Individual Predoctoral Fellowship to Promote Diversity in Health-Related Research. This is the first time this grant, known as the F31, has been awarded to a Kellogg candidate. His work was also recognized with the Members-in-Training Outstanding Poster Award in genetics at the 2024 meeting of the Association for Research in Vision and Ophthalmology (ARVO).
“This project began several years ago, when our lab learned of a large family suffering from a dominant form of early-onset NTG. They were experiencing very aggressive disease progression that was unresponsive to traditional glaucoma therapies,” he says.
Isolating the culprit gene proved a complex puzzle. A variant in RPAP3 was associated with NTG in all but two family members, whose optic atrophy may be secondary to a separate condition.
“Preliminary data suggest that the RPAP3 variant is inhibiting production of the proteins that make up a key optic nerve supporting structure called the lamina cribrosa,” Presley explains. “Understanding the pathways involved may eventually point toward new screening and treatment options for this family, as well as other patients with comparable disease presentations.”
Recently, a second NTG family carrying a similar RPAP3 mutation was identified, further strengthening the disease-gene association.
Presley was also recognized in 2024 with an award at the annual Kellogg Research Day conference for a project identifying a genetic variant in a family with plateau iris and angle closure glaucoma.
