Dr. Shannon Boye is a scientist and entrepreneur at the University of Florida who has spent more than two decades developing gene therapies for inherited eye diseases. Her latest work has been focused on finding a noninvasive way to treat gene mutations that affect young children.
Humans are made up of DNA containing genes, which produce the proteins that perform the body’s essential functions, including converting light into vision in the eye, Boye explained in an interview with The Sun. When a gene contains a mutation, it either fails to produce its intended protein or produces one too misshapen to work properly, causing that function to break down entirely.
“Blindness can be caused by misspellings in genes in your retina that fail to make protein,” she said. “So my job as a gene therapist is … to deliver a healthy copy of a gene back into the patient’s eye and then ask that healthy gene to make the protein it was supposed to make, and in so doing, hopefully restore function to that person’s retina.”
Boye and her husband founded a startup, Atsena Therapeutics, six years ago where she’s been able to apply her academic research in a clinical setting as chief science officer. The company is currently running two clinical-stage gene therapy programs for X-linked retinoschisis (XLRS), a genetic disease that causes progressive vision loss in boys, and Leber congenital amaurosis type 1 (LCA1), which can cause blindness from birth.
At UF, Boye and her team developed a new virus based on adeno-associated virus, or AAV, a viral vector that scientists pioneered at the university in the 1980s and ’90s. AAV, she said, acts like a “taxi cab,” transporting healthy genes directly into a patient’s retina to treat mutations. Standard AAV delivery involves injecting the virus underneath the retina, temporarily detaching it. If that detachment occurs over the fovea — the region responsible for color, sharpness, and daytime vision — it can worsen a patient’s sight.
Her team’s new virus, AAV-SPR, is safer than the original. The viral vector can travel beyond its injection site, so doctors can inject it in the peripheral retina rather than directly underneath it while still delivering therapeutic genes to the fovea. The ‘S’ in SPR stands for spread.
“It’s a huge leg up in terms of safety, and it’s a big leg up in terms of efficacy as well, because we can target gene to a wider region of the retina. I think that we are solving for one of the biggest problems in the gene therapy space, which is the ability to target the appropriate cell type,” she said.
One young patient involved in the clinical trials who was suffering from XLRS said the treatment changed his life. Before receiving the new vector, he had been depressed, socially isolated and reluctant to try new things, Boye said. After treatment, he took up rock climbing and told doctors he felt like he was looking at the world through an HDTV. Another 12-year-old patient reported being able to see the whiteboard from a seat in the back of his classroom a few weeks after receiving the treatment.
Clinical trials for the treatment of LCA1 have also been successful. Boye told The Sun about patients who said they saw snowflakes and stars for the first time.
“There was a woman who was treated about a month before Halloween, and by the time the holiday rolled around, she was able to read the labels on her kids’ candy for the first time,” she said. “We had one woman who was able to see the lines and the crosswalk at night outside her house, so it was the first time she was able to navigate safely outside her home at night.”
Pivotal trials for both treatments are set to begin this year, and Boye expects to seek FDA approval for the treatments in 2028.
This article originally appeared on The Gainesville Sun: UF scientist develops safer gene therapy to restore vision
Reporting by Chelsea Long, Gainesville Sun / The Gainesville Sun
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