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Gene therapy gives vision to visually impaired patients since childhood, research reveals

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A single shot of RNA therapy provided vision for patients suffering from a rare genetic type of childhood blindness.

The results of this gene editing study conducted at the University of Pennsylvania Perelman School of Medicine are: Nature medicine The findings show that the procedure has brought about major changes in the fovea centralis, the central point of human central vision.

Gene therapy enhances retina capacity

Some patients in the study took intraocular shots of the antisense oligonucleotide sepofalsen. This RNA molecule increases normal CEP290 levels of photoreceptors in the eye and enhances retinal capacity under daytime visual conditions.

Read again: Blinds regain vision after artificial corneal transplant from Israeli company

This treatment was intended for patients with retinal disorder Leber congenital amaurosis (LCA) with the CEP290 mutation. This is a gene that is commonly affected among patients suffering from this disease. Patients who suffer from this form of LCA will have severe visual impairment that begins in infancy.

According to researchers, the findings will set new criteria for possible biological improvements. Artur Cidecyan, Ph.D., co-author and professor of ophthalmology at the University of Pennsylvania Science Eye Institute. Said in this study: This allows you to compare the relative benefits of two different interventions. “

Gene therapy for pediatric blindness

(Photo: Victor Freitas from Unsplash)

In this study, researchers found that repeated injections of sepofalsen every three months significantly improved vision in 10 patients. The eleventh patient, who was tested for a period of 15 months and received only one shot of Sepofalsen, had no night vision, narrow vision, and poor vision. After receiving the initial dose, patients decided not to receive quarterly maintenance because continuous injections increase the risk of cataracts.

Significant visual acuity improvement several months after injection

A single dose of sepofalsen was observed to significantly improve visual function and retinal structure, demonstrating a significant biological effect of the treatment. An important finding from this study was that this biological effect was relatively slow when the shot was first given. However, researchers observed an improvement in visual acuity after one month, and the patient’s visual acuity reached its most pronounced state after more than two months.Very surprisingly, these vision improvements When tested 15 months after injection..

These powerful visual improvements were unexpected, the researchers said, saying their findings may provide implications for coping with ciliopathy. cell.

Researchers further stated that this provides “an exciting direction for RNA antisense therapy.” They added that the unexpected stability of the patient’s cilia trading zone leads to an appropriate dosing schedule for treatments targeting sepophalsen and other cilia.

The reason behind the effectiveness of antisense oligonucleotides in the treatment of this rare form of blindness is that RNA molecules are small enough to penetrate the cell nucleus but remain long enough to do their job. This is because it is not removed immediately.

Researchers are planning gene-specific treatments for currently incurable blindness due to hereditary retinopathy.

In the UK, the charity Fight For Sight is likewise Funding parallel research At University College London (UCL), NewsMedical reported on the use of gene therapy in the treatment of LCA.

Related article: Experts reveal what the eyes are telling about human health

Read more news and information about Gene therapy About science time.


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