( University of Pennsylvania researchers ...)Gene Therapy Awakens the Brain Despite Blindness from Birth,Health

University of Pennsylvania researchers have shown in an animal study that a gene therapy used to restore retinal activity to the blind also restores function to the brain's visual centre , a critical component of seeing.

Geoffrey K. Aguirre, Assistant Professor of Neurology at the university who led that multi-institutional study, feels that gene therapy can improve retinal, visual-pathway, and visual-cortex responses in animals born blind, and that it has the potential to do the same in humans.

"The retina of the eye captures light, but the brain is where vision is experienced," Aguirre said.

"The traditional view is that blindness in infancy permanently alters the structure and function of the brain, leaving it unable to process visual information if sight is restored. We've now challenged that view," he added.

According to the researchers, the new findings are significant because they support the potential for human benefit from retinal therapies aimed at restoring vision to those with genetic retinal disease.

During the course of study, the researchers used functional MRI to measure brain activity in blind dogs born with a mutation in gene RPE65, an essential molecule in the retinoid-visual cycle. The same mutation causes a blindness causing eye-retinal disorder in humans called Leber congenital amaurosis (LCA).

When the researchers performed gene therapy on canines by introducing a working copy of RPE65 into their retina, the eye functions were restored in them. However, it was unclear whether the brains of the animal could "receive" the restored sight.

The researchers noted that gene therapy to the eye dramatically increased responses to light within the visual cortex of the canine brain. They observed the recovery of visual brain function in a dog that had been blind for the first four years of its life, and the recovery persisted in another dog for at least two-
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