Researchers find key to cure blindness

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A team of researchers from the University of Wisconsin-Madison have published a trial that, on paper, could cure blindness caused by hereditary macular degeneration, a condition that, until now, was not curable. He test It has been led by Dr. David Gamm and has been published in the American Journal of Human Genetics and this line of work could lead to healing of an incurable disease.


Specifically, the team has focused on vitelliform macular dystrophy, also known as BEST disease, and which causes a gradual loss of vision from childhood to blindness total over the course of a few decades. This disease has a clear hereditary component and is caused by more than two thousand mutations of the BEST1 gene.

Researchers have approached this incurable disease in a different way than previously. They have corrected degeneration by placating the mutated genes with functional copies of BEST1. This approach has proven to be successful in most mutations that have been tested, but not in all, as the team itself highlights. Specifically, the work has been based on the application of the CRISPR-Cas9 gene in the mutated genes.

What is the origin of Best’s disease? The BEST1 gene contains a protein that affects a layer of the retina known as RPE, so that by inheriting this defective gene from one of the parents, the person will be affected by this disease and will be doomed to blindness. This therapy genetics it requires high precision when it comes to replacing faulty genes with functional ones, as highlighted in the trial.

Are we close to the cure for Best’s disease? The short answer is no, but the hope is that, in theory, a new avenue has been opened to apply healing to real patients. “We were able to reduce the disease across the gene lines,” confirms Gamm, and the good news does not end here: this approach to the problem could be applied to other diseases caused by genetic mutations that affect tissues.

The post Researchers find key to cure blindness appeared first on Digital Trends Español.

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