3 words. Inherited retinal degenerations. Commonly abbreviated as IRDs. It’s a spectrum of retinal degeneration diseases in which photoreceptor cell death occurs and progressively declines one’s vision due to deteriorating retinal functions. This leads to permanent blindness.
Here’s where the BRILLIANCE trial comes to play. Dr Mark Pennesi, decides to put the capabilities of the CRISPR gene to the test. The trial has shown a lot of promise. He says that it’s much more rewarding to a physician when the patient describes how their vision has improved after treatment. He continues to add that the aforementioned benefits can have huge impacts on those with low vision. He is an ophthalmologist and Oregon Health & Science University’s leading scientist for the Phase 1 out of the two phases for the BRILLIANCE trial.
They are attempting to resolve a rare form of blindness. The evaluation of the safety and effectiveness of the trial took place. EDIT-101, an experimental gene that was utilised through the CRISPR technology is part of an editing treatment of gene by Editas Medicine. Sadly, there is, no FDA approved treatment for Leber Congenital Amaurosis, known as LCA, Type 10. LCA is a retinal disorder that causes dystrophy leading to vision loss and blindness at the infancy stage. It falls under the spectrum of IRDs. This is a rare genetic condition. The purpose is to edit a CEP290 gene mutation, this mutated defect occurs in 2 or 3 out of 100,000 newborns. This method is the 1st of its kind to utilise CRISPR for in vivo gene editing where the genes are fixed within the human body.
It is part of GE, which is gene editing or genome editing and is meant to remove or replace a mutated gene at the DNA level.
The findings for this study are published on the New England Journal of Medicine dated May 6, 2024.
Nivea Vaz
Manipal College of Medical Sciences, Pokhara







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