Philly a hotbed of efforts to prevent blindness

Gustavo Aguirre (right), an ophthalmologist at the University of Pennsylvania School of Veterinary Medicine, with William Beltran, an assistant professor of ophthalmology.
Gustavo Aguirre (right), an ophthalmologist at the University of Pennsylvania School of Veterinary Medicine, with William Beltran, an assistant professor of ophthalmology. (AKIRA SUWA / Staff Photographer)
Posted: June 25, 2012

In the mountains of Peru, in the remote village of Paran, 50 of the 400 residents are blind.

It has been like this for at least five generations. Families have come to expect and accept that some of their children are likely to live out their lives in darkness.

But on June 13, an e-mail signaling hope for the villagers arrived in Gustavo Aguirre's tiny, windowless office at the University of Pennsylvania School of Veterinary Medicine.

A Peruvian researcher who had taken DNA samples from the villagers had just received the results of a genetic test. It showed that a gene that causes retinitis pigmentosa had been identified and found to closely match the one Aguirre has isolated in his Philadelphia laboratory.

"Let us repeat our congratulations on his discovery, celebrate the match and hope that together, we can move forward," the note said. Aguirre, 68, a veterinary ophthalmologist with a Ph.D. in cell biology, was thrilled. In his line of work, moments like this don't come around often.

His research requires the patience of a monk, the determination of a marathon runner, the discipline of a Marine, the brain of a scientist, and millions upon millions of dollars in funding.

For nearly 40 years, Aguirre has been teasing apart the pieces of a genetic puzzle that causes the cells in the retina to die and make people go blind.

One of his most dramatic successes occurred in 2001 when he and his colleagues used gene therapy to cure a dog - a briard sheepdog named Lancelot - of X-linked congenital stationary night blindness.

Lancelot, who died last year at the age of 12, was once taken to Congress to shake paws with legislators and lobby for funding for gene therapy. He retained his sight for the rest of his life.

Within five years, Aguirre said, clinical trials will begin in humans who have a similar genetic mutation.

Aguirre works with a broad network of other researchers in Philadelphia, around the country, and internationally. In his current projects, he is collaborating with research labs at Penn's Scheie Eye Institute and the ophthalmology department at the University of Florida.

And, now, the investigators in Peru.

The eyes of a dog and a human are very different, but the genetic mutations that cause retinal diseases in both species are similar enough that advances in identification and treatment in dogs can be applied to people.

Meanwhile, Aguirre said, the research that he and his colleagues have done has helped breeders eliminate the genes that used to make their dogs go blind. "The incidence of these diseases has plummeted," he said. "Progressive retinal atrophy in Irish setters, for example, has nearly disappeared."

Inherited diseases of the retina affect only 200,000 people in the United States, said Stephen Rose, chief research officer for the Foundation Fighting Blindness, a nonprofit that has funded Aguirre's work since he started. (Approximately 10 million Americans lose their sight from age-related macular degeneration, Rose says, but that is caused by a variety of factors, including obesity and smoking.) When an illness afflicts a relatively small population, he explains, it is called an "orphan disease," and is less likely to attract research funding from pharmaceutical companies.

That is why scientists like Aguirre rely on public support from the National Eye Institute and niche philanthropies like the Foundation Fighting Blindness.

Since its founding in 1971, the group, based in Columbia, Md., has donated $450 million to fund research around the world.

"Philadelphia is one of the hotbeds of research and progress on finding effective treatments," Rose said.

The foundation hosts an annual fund-raiser called "Dining in the Dark," in which donors sit down to an elaborate meal with the lights so dim they cannot see their hands. This year's event will be held June 25 at the Four Seasons Hotel.

Locally, one of the primary fund-raisers for the last few years has been Ed Babin. Five years ago, his son Eddie started to have trouble seeing. "We thought he needed glasses," said Babin, the 47-year-old owner of a Bucks County company that sells sprinkler systems.

When Babin and his wife took Eddie to the eye doctor, they were told the boy had Stargardt's disease, that the cells in his retina were rapidly dying.

"They told us, 'There is nothing we can do for your son.' Nothing. No pills. No surgeries." Eddie was 14. He played football and hockey. Within a year, he was unable to see well enough to watch his teammates play, and his younger brother, Andrew, began to lose his vision, too, from the same disease.

"The doctors gave us no hope. It was a very depressing time in our lives," said Babin.

Babin now sits on the foundation's national board. "We're parents on a mission to raise money to help any child with these diseases," he said. "I promised my sons that they'll drive a car and see a movie again one day."

In October, the Babins sponsor a team for the annual fund-raising walk. It's named "Special Ed and the Guide Dogs," after Eddie's rock band. Both boys have taken up music to replace sports.

And they always attend the Dining in the Dark dinner.

"Trying to pour wine and eat your food, you'd be shocked how difficult it is," Babin said.

Aguirre, who is a regular at these dinners, said that even though he has dedicated his career to blindness, he was not prepared for the experience.

"You definitely don't want to wear a good tie."


Contact Melissa Dribben at 215-854-2590 or mdribben@phillynews.com.

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