In-Vivo CRISPR Gene Editing Might Cure Hereditary Blindness

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Clustered Regularly Interspaced Short Palindromic Repeats, aka CRISPR, is a family of DNA sequences found in the genomes of prokaryotic organisms such as bacteria and archaea. These sequences are derived from DNA fragments of bacteriophages that had previously infected the prokaryote. They play a vital role in the antiviral defense system.

They are used to detect and destroy DNA from similar bacteriophages during subsequent infections. The technology had been used to functionally inactivate genes in human cell lines and cells, to study Candida albicans, to modify yeasts used to make biofuels, and to modify crop strains genetically. Today CRISPR is living its glory momentum.

In-vivo CRISPR to cure Leber Congenital Amaurosis (LCA), hereditary blindness

Scientists at the Oregon Health and Science University are currently involved in a study to test CRISPR’s abilities to treat the genetic mutation of the gene CEP290. The mutations of this gene cause blindness, by firs inducing Leber Congenital Amaurosis disease.

They cured it without cutting out the faulty DNA sequence and put it back after being edited. This is the former technique used. Now, the first patient got the in vivo treatment, and another 18 are waiting for their turn.

The scientists injected the CRISPR-loaded medicine directly into photoreceptor cells behind the retina, to remove the faults of CEP290. “Being able to edit genes inside the human body is incredibly profound. Beyond potentially offering treatment for a previously untreatable form of blindness, in vivo gene editing could also enable treatments for a much wider range of diseases,” says Mark Pennesi, OHSU’s lead scientist in the trial.

Gene CEP290 and LCA

The gene CEP290 is a centrosomal protein that plays an essential role in the photoreceptors at the back of the retina and in the kidney, brain, and many other organs of the body. A mutation in this gene leads to infant and child blindness, a disease known as Leber Congenital Amaurosis. Thirty-five different variations in CEP290 are responsible for causing LCA.

Other mutations have also been identified in causing many other syndromes. It is unknown how one mutation in a gene can create so many different types of syndromes, particularly many of which affect the Central Nervous System.

Leber congenital amaurosis is a rare inherited eye disease that appears at birth or in the first few months of life. The term congenital refers to a condition present from birth, and amaurosis refers to a loss of vision not associated with a lesion. LCA is typically characterized by nystagmus, sluggish or absent pupillary responses, and severe vision loss or blindness.

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