When it comes to developing innovative gene therapies for retinal diseases, few researchers are doing more than Shannon Boye, Ph.D., and her laboratory staff of 10 at the University of Florida. In addition to advancing a gene therapy for Leber congenital amaurosis (LCA) caused by GUCY2D mutations toward a human study, Dr. Boye and her team are enhancing gene-delivery systems by making them safer to administer and able to carry larger payloads than current systems.
In recognition of her pivotal role in moving the gene-therapy field forward, Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.
“Not only is Dr. Boye a top-notch retinal investigator; she is thoughtful, articulate and, as VISIONS attendees are learning in her Gene Therapy 101 session, she knows how to communicate the complicated science in terms that everyone can understand,” says Stephen Rose, Ph.D., the Foundation’s chief research officer.
Dr. Boye’s emerging LCA gene therapy is particularly compelling because GUCY2D mutations severely affect the cones of young children. Cones are the retinal cells responsible for reading, recognizing faces, perceiving colors and seeing in lighted conditions.
She has achieved success with the gene therapy in mouse models of LCA, and is now determining the optimal viral gene-delivery system for a planned human study. She’s partnering with the pharmaceutical company Genzyme to launch the clinical trial.
Dr. Boye is also working on a technique for injecting gene therapies into the middle of the eye, which is filled with pliable vitreous gel. The approach is less likely to cause damage than subretinal injections, which are commonly used but more invasive, and put the retina, already fragile from disease, at risk of further damage.
To address the challenge of getting large genes like USH2A and CEP290 into cells of the retina, Dr. Boye is developing what’s known as a dual-vector delivery system, which essentially doubles the capacity of current systems.
Dr. Boye is one of the youngest investigators ever to receive the Board of Director’s Award, which is given annually at the conference. “Young researchers are beginning their careers with more powerful technologies and more scientific knowledge than established scientists like we had when starting out,” says Dr. Rose. “They have an opportunity to advance the science much faster and further. They are the lifeblood of the future of research, and moving treatments into human studies.”
The Foundation established the Alan Laties Career Development Program to foster the advancement of young, retinal-research talent. It’s given out more than 100 awards.