May 4, 2026

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How a vision-restoring gene therapy proved that we can treat inherited diseases

Three 2026 Breakthrough Prize winners reflect on developing Luxturna, a gene therapy that treats blindness caused by rare inherited eye diseases

By Lauren J. Young edited by Jeanna Bryner

Glasshouse Images/Getty Images

Physician and molecular biologist Katherine High remembers sitting at a staff meeting of the gene therapy company Spark Therapeutics on November 15, 2018, waiting to hear from a guest speaker, when the first snow of the season began to fall in Philadelphia. Just outside the auditorium, the speaker, a 10-year-old boy with a rare inherited eye disease called Leber’s congenital amaurosis (LCA), was transfixed by the falling flakes outside the full-length windows. The child, who had previously been legally blind from the progressive condition, was one of the first patients to regain vision from a gene therapy High helped develop. It was the first time he had ever seen snow fall.

“It was very difficult to get him away from watching the snowflakes fall [and] into a room to sit and talk to people,” High, who co-founded Spark Therapeutics, recalls. Witnessing the child marvel at the snowy scene was “obviously very profound. It was breathtaking.”

High, molecular biologist Jean Bennett and ophthalmic surgeon Albert Maguire are three of the key players who developed Luxturna, a gene-augmenting therapy that can help reverse some inherited retinal diseases, including a type of LCA. LCA affects thousands of people globally and is responsible for 20 percent of childhood blindness. People with LCA are born with very poor vision, which slowly worsens over time—this is caused by a faulty chemical mechanism in retinal light-sensitive cells.

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“Whatever poor vision they have as infants disappears because the cells die off progressively as people grow,” Bennett says. “By the time they’re 20, they’re usually stone-cold blind.”

By targeting a gene central to the molecular dysfunction and creating a novel system to deliver functional genetic instructions, High, Bennett and Maguire were able to move their therapy from the lab to experiments in dogs and finally to clinical trials in humans. They demonstrated in patients that the technique could resuscitate retinal cells and increase visual sensitivity more than 40,000-fold.

“For young patients, we’ve had people who have had their visual field restored to what would be considered normal,” Maguire says.

The U.S. Food and Drug Administration approved Luxturna to treat LCA in 2017. The one-time therapy—which costs about $425,000 per eye—is injected under the retinas. Since the first trials, at least 500 people in the U.S. have received the treatment.

(L-R) Albert Maguire, Jean Bennett and Katherine A. High, who each won the 2026 Breakthrough Prize in Life Sciences at the Breakthrough Prize Ceremony on April 18, 2026 in Santa Monica, California.

Getty Images for Breakthrough Prize

The trio recently won a 2026 Breakthrough Prize for this work. Scientific American spoke with Bennett, Maguire and High about the challenges of developing the therapy and conducting human trials, the ways they gained trust with patient communities and the future of the research.

[An edited transcript of the interview follows.]

What is Leber’s congenital amaurosis? What are the symptoms?

MAGUIRE: Leber’s congenital amaurosis is a retinal disease that affects photoreceptors [light-sensitive cells]. It is a progressive degeneration because of genetic biochemical defects which result in blindness.

There are numerous genetic subtypes of Leber’s congenital amaurosis, and early on, they look different in terms of severity. For instance, type LCA5 is an early onset severe visual disability characterized by oculodigital behavior, in which people press on their eyes to stimulate mechanical light. From birth, they really do not have very useful, functional vision. They can’t read. They have no night vision. That’s a very severe form, which is still being worked on.

LCA2 [which Luxturna is approved to treat] is a type that’s a little less severe. People with LCA2 haveabnormal, jiggling eye movements soon after birth because they can’t see things sharply enough to fix their eye on them. They usually have very poor sensorial acuity [inability to see details or objects from backgrounds]. They have nystagmus, which is when their eyes are moving around, sort of sweeping the area to pick up on things. They tend not to look at faces, and that’s a