Genetic treatments make the brain work despite being born blind

Researchers at the University of Pennsylvania have demonstrated a gene therapy method commonly used to restore retina to the eyes in the blind, also restores the function of the visual center of the brain, a key component. Key of sight.

The famous study led by Geoffrey K. Aguirre, associate professor of neurology at Penn Medical School, shows that gene therapy can improve the retina for the eyes, for small vessels. visual, and for the visual stimulation of the outer shell in blinded animals. and this can be done in humans.

'The retina of the eye receives light, but the brain is the place where vision is perceived,' Aguirre said. 'The traditional concept is that innate blindness changes the structure and function of the brain, making it impossible for the brain to process visual information unless vision is restored. We are now doubting this view. '

Results from retinal treatments to restore vision to people with this genetic retinopathy have encouraged a potential treatment for human benefit.

(Photo: Europa) Researchers have used MRI to measure brain activity in blinded dogs with a mutant gene RPE65, an essential molecule in the retina's visual cycle. . The same mutation causes human blindness known as Leber congenital fragility, or LCA for short (Leber Congenital Amaurosis). It is the first retinal eye disorder in people recommended by gene therapy.

The research team found that gene therapy for the eyes significantly increased the reception of light in the visual cortex of the dog's brain . The recovery of visual brain function occurs in blind dogs for the first 4 years of its life, and it is seen that recovery continues to exist in another dog for at least 2 and a half years after being treatment, this refers to the durability of the treatment.

Next, the scientists studied the structure and function of the visual brain in patients with the same type of blindness. Young adults who are blind due to RPE65 mutation have intact visual brain blood vessels along with nearly normal structures. The Penn University team also found that, while the visual membrane of these patients with LCA does not perceive dim light, the brain's response to brighter light is comparable to those of people with normal vision.

Aguirre said: 'It seems that these patients have the necessary cerebral vessels ready to work if their eyes start to work again.'

The results of the study were led by the ophthalmic professor Samuel G. Jacobson, at the Scheie Eye Institute at Penn University, and Artur V. Cideciyan, the assistant professor of ophthalmology, which is very important for the trials. clinical trials in humans.

Cideciyan said: 'The existence of practical potential in both the eyes and the brain are prerequisites for the success of gene therapy in all forms of LCA. For the RPE65-type disease, we now have evidence for both, and retinal-level treatment has hoped to restore the patient's useful vision. '

Danh Phuong