Florida Trend Staff | 1/1/2010

Science
» William Hauswirth

William Hauswirth published research last year that experts say offers significant hope that gene therapy could one day help cure human vision disorders. [Photo: Jeffrey Camp]

In fall 2009, Dr. William Hauswirth, professor of ophthalmology and molecular genetics at the University of Florida, published research that showed how gene therapy could cure squirrel monkeys of color blindness — the most common genetic disorder in people. The findings represent a significant step toward curing human vision disorders involving cone cells, which are the most important cells for sight. Hauswirth also has had initial success in human clinical trials to test gene therapy for Leber congenital amaurosis, a form of blindness that strikes children.

Florida Trend: What made you decide to study ophthalmology?

William Hauswirth: "I was a molecular biologist with a long-standing side interest in light and its interaction with cells, especially vision. When it became possible to deliver genes to living cells, it became obvious to me that there was a great opportunity to treat blindness using the molecular techniques with which I was familiar."

FT: When and how did your research turn to gene therapy, and how long have you spent working to figure out how genes can treat blindness?

WH: "In the early 1980s two key advances happened that made gene therapy for blinding genetic disease at least theoretically possible. First, the tools were developed (at UF) to create safe human viruses that could deliver potentially therapeutic genes to living cells. Second, the first gene causing a blinding disease of the retina was discovered, and it was clear that many more were to follow."

FT: Your techniques have successfully cured color blindness in monkeys and have actually restored vision in people who were born with a form of genetic blindness. Can you explain how each of those treatments works?

WH: "Both treatments involved making in the lab a human virus that was able to efficiently and safely deliver a gene missing in either the color-blind monkeys or in one genetic form of childhood blindness. We then injected each new virus carrying the correct therapeutic gene into the retinas of affected monkeys or humans. After a few months each had regained partial function to correct their vision deficit: Red color vision was restored for the monkeys and ability to perceive objects they could not previously see for the people."

FT: What is the status of human clinical trials — and how close are you to clinical treatment?

WH: "The clinical trial has been under way for almost two years, and we have treated nine young adults and children so far. Our plan requires us to move very carefully at the beginning of such a novel form of therapy. We can only report on the outcome for the first three, and all had clinically significant improvement in their vision, one being able to see objects in 60,000 times dimmer light than before gene therapy. There were no adverse side effects in any patient."

FT: What are the implications for other types of blindness?

WH: "These results suggest that many forms of genetic blindness are likely to respond as well to the correctly designed retinal gene therapy. Each therapy will require its own specific gene to be inserted into the virus and a carefully designed clinical trial to document safety and efficacy."

FT: Can you describe the feeling of helping someone to see again?

WH: "The feeling is difficult to put into words: It is sort of like wandering for days in a dense, rainy jungle thinking that you may never find your way home and then suddenly emerging into a sunny, dry clearing with your home in front of you. The sense of joy is subdued but very warm and real." — Cynthia Barnett

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