Now for the first time, the most promising magic bullet yet—gene therapy—has been shown to safely improve vision in children and adults with rare retinal diseases that cause blindness.
Penn husband-and-wife research team Albert M. Maguire and Jean Bennett have been examining inherited retinal degenerations together for nearly 20 years. Their study sought to improve vision in five children and seven adults with Leber's congenital amaurosis (LCA), which affects fewer than 2,000 people in the United States. The results even surprised them.
"Children who were treated with gene therapy are now able to walk and play just like any normally sighted child," says Maguire, an associate professor of ophthalmology at Penn and a physician at the Children's Hospital of Philadelphia. "They can also carry out classroom activities without visual aids."
"It's a dream come true, really. We hope it's a cure. We'll have to wait for time to pass by to see if it is," says Bennett, the F.M. Kirby Professor of Ophthalmology at Penn's School of Medicine.
Maguire and Bennett met when they were first-year medical students at Harvard. "We were dissecting partners in neuroanatomy. It was love over the hypothalamus," Bennett says.
They've been married for 24 years. A shared desire to combine their unique skill sets in search of new cures for eye disease led them to begin collaborating professionally.
"It was really fun. He'd come to my lab a couple of hours once a week and we'd work together, taking advantage of his surgical skills and whatever I'd concocted in the lab," Bennett says. "We tried really hard not to bring it home and make our kids listen to it over dinner. But I must confess—they had an unusual vocabulary when they were little, talking about things like electroretinograms."
The roots of their scientific breakthrough reach back to the early 1990s, when scientists began unraveling the complex human genetic code and the idea of gene therapy moved from the realm of science fiction to the covers of medical journals."Twenty years ago, gene therapy was a pipe dream ... The ability to deliver genes stably and safely to the tissue didn't evolve until the late 1990s," Bennett says.