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A GREAT LEAP IN THE TREATMENT OF HEREDITARY PATHOLOGIES OF VISION: GENE THERAPY

Of all the advances that scientific and technological development has brought in the field of hereditary pathologies that affect vision, the most relevant and transcendent for the patient is the possibility of applying treatments for diseases that, until now, were considered incurable. Thirty years ago a new type of therapy was successfully launched: gene therapy.

In general terms, gene therapy is the introduction or modification of genetic information in the patient, with the aim of relieving or reversing their symptoms. Gene therapy can be applied by different methodologies. To date, these are the most promising in the field of hereditary retinal dystrophies:

Gene Addition

This therapy introduces a healthy copy of the affected gene into the patient’s cells using viral vectors or nanoparticles. This is currently the most advanced therapeutic strategy and it is applied in quite a number of clinical trials. However, it has two main disadvantages. First, there is a limit to the size of the gene that can be introduced. Second, it is not an effective strategy with dominant diseases.

Gene Editing: CRISPR-Cas

The CRISPR-Cas system allows direct modification of the patient’s pathogenic genes. This system aims to introduce a sequence into the patient’s cells that is incorporated in the same place as the affected gene, and the information for the synthesis of an enzyme that will cut all or part of the defective gene. The EDIT-101 therapy from Editas Medicine Inc. uses this strategy to remove part of the defective intron of the CEP290 gene.

Antisense Oligonucleotides

Mutated genes produce messenger RNAs from which defective proteins will be generated. Antisense oligonucleotides bind to these messenger RNAs, promoting their degradation and blocking the production of defective proteins.

Optogenetics

This technique consists of the use of light to activate therapeutic compounds. A recent therapy developed by Nanoscope Therapeutics Inc. introduces genes whose proteins, in combination with special glasses, are able to respond to light signals and  activate the neuronal circuit responsible for vision.

Inteins

Inteins are a type of protein capable of self-processing. That is, they are capable of making cuts and bindings on certain sequences until they obtain a functional protein. The company SpliceBio is developing a therapy for the treatment of Stargardt’s disease caused by mutations in the ABCA4 gene, which is too large to be introduced in its entirety using conventional vectors.

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