Fighting blindness with gene therapy
Shannon E. Boye, PhD ’06, has an eye for tackling some of the toughest sight-robbing vision problems.
Shannon E. Boye, PhD ’06, has an eye for tackling some of the toughest sight-robbing vision problems. It’s an arduous mission: packaging corrective genes inside a harmless virus and deploying it to correct retinal disease.
Colleagues and collaborators in ophthalmology research note that Boye has had a major impact on gene therapy for eye diseases. Yet she speaks modestly — almost matter-of-factly — about spending years searching for a viable treatment.
“I owe much thanks to many people for getting my research to where it is now,” said Boye, an associate professor in the department of ophthalmology at the UF College of Medicine.
Her determination and collaborative spirit have brought Boye significant recognition. She recently received an award given to scientists whose work has important clinical applications. The Association for Research in Vision and Ophthalmology Foundation presented a Carl Camras Translational Research Award to Boye during its annual meeting. It includes a $12,000 honorarium.
Since the early 2000s, Boye has led the development of a gene therapy for Leber congenital amaurosis type 1, or LCA1. Patients lose their vision due to a genetic mutation that inhibits protein production in the eye’s rod and cone photoreceptors.
A series of findings published by Boye and her colleagues between 2012 and 2015 showed the gene therapy was safe and effective at restoring vision and retinal function in mouse models and worthy of study in human clinical trials. The French pharmaceutical firm Sanofi established a research collaboration with UF and the University of Pennsylvania to develop LCA1 gene therapy.
While Boye’s accomplishments are widely respected, it’s her other qualities that also help make her science successful. One of her peers, University of Pennsylvania ophthalmology professor Samuel Jacobson, MD, PhD, offers this assessment: Dynamic scientist. Humble and self-effacing. Collaborates well with many different scientific groups.
In nominating Boye for the award, Jacobson said Boye has the crucial scientific instincts to understand which diseases are within reach to treat. Her research “has evolved over the years to the point of being critically important for current progress in treating human retinal blindness,” Jacobson noted.
This story originally ran in the Summer 2018 issue of the Doctor Gator newsletter.