Science: Elevated Intraocular Pressure and Glaucomatous Optic Neuropathy: Genes to Disease Mechanisms, Therapeutic Drugs, and Gene Therapies
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david 4.3k
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A recently published study titled Elevated Intraocular Pressure and Glaucomatous Optic Neuropathy: Genes to Disease Mechanisms, Therapeutic Drugs, and Gene Therapies delves deep into the molecular mechanisms, genetic components, and novel treatment approaches related to glaucoma and its commonly associated condition, chronic ocular hypertension (cOHT).

A Dive into Disease Mechanisms

As we know, glaucoma is a collection of degenerative ocular diseases marked by optic nerve damage, the death of retinal ganglion cells through apoptosis, disruptions in the brain regions tied to visual perception, and significant visual impairment. Among the different types of glaucoma, primary open-angle glaucoma (POAG) is the most prevalent, typically associated with chronic ocular hypertension (cOHT).

Existing treatment options involve a range of pharmaceuticals, surgeries, and device-based therapies, primarily aimed at managing ocular hypertension. However, there is a dire need for improved therapies that offer better efficacy, lower side effects, and sustained activity.

Genetic Links Uncover New Therapeutic Avenues

One of the exciting areas in glaucoma research involves uncovering the genetic aspects of the disease. Genome-wide associated studies (GWAS) have been instrumental in linking the disease pathology to certain genes. This knowledge not only contributes to a deeper understanding of glaucoma but also highlights new directions for potential treatment options.

Novel Treatment Strategies: Gene Therapy and Optogenetics

The review highlights the potential of novel therapies like gene replacement, gene editing with CRISPR-Cas9, and optogenetics in revolutionizing glaucoma treatment.

Gene therapies could potentially replace defective genes linked with cOHT and POAG, hence addressing the root cause of the disease. For example, gene replacement involves introducing a functional copy of the defective gene, while gene editing using CRISPR-Cas9 can precisely modify the faulty gene.

Optogenetics, another innovative approach, involves using light to control cells in living tissue, typically neurons, which have been genetically modified to express light-sensitive ion channels. It could be a promising strategy for restoring vision in glaucoma patients.

These cutting-edge technologies could not only replace traditional drug-based therapies but also enhance the effects of existing treatments, providing a more comprehensive and effective treatment strategy for chronic ocular hypertension (cOHT) and POAG.

A Bright Future for Glaucoma Treatment

Many experts feel that the recent advancements in our understanding of the genetic underpinnings of glaucoma and ocular hypertension have opened the door to a host of novel treatment options that will rapidly improve the lives of people living with glaucoma.

With the possibility of gene therapies and optogenetics, we may soon be looking at a future where glaucoma can be managed more effectively, or even cured, paving the way for brighter, clearer futures for millions worldwide. The journey from genes to disease mechanisms, to therapeutic drugs and gene therapies, is one promising route towards combating this vision-impairing disease. It's not my personal favorite approach, but we all need to be aware of these emerging options.

Here is the study abstract:

Abstract

This review article focuses on the pathogenesis of and genetic defects linked with chronic ocular hypertension (cOHT) and glaucoma. The latter ocular disease constitutes a group of ocular degenerative diseases whose hallmark features are damage to the optic nerve, apoptotic demise of retinal ganglion cells, disturbances within the brain regions involved in visual perception and considerable visual impairment that can lead to blindness. Even though a number of pharmaceuticals, surgical and device-based treatments already exist addressing cOHT associated with the most prevalent of the glaucoma types, primary open-angle glaucoma (POAG), they can be improved upon in terms of superior efficacy with reduced side-effects and with longer duration of activity. The linkage of disease pathology to certain genes via genome-wide associated studies are illuminating new approaches to finding novel treatment options for the aforementioned ocular disorders. Gene replacement, gene editing via CRISPR-Cas9, and the use of optogenetic technologies may replace traditional drug-based therapies and/or they may augment existing therapeutics for the treatment of cOHT and POAG in the future.

Keywords: CRISPR-Cas9; genome-wide associated studies (GWAS); ocular hypertension; optogenetics; primary open-angle glaucoma.

Elevated Intraocular Pressure and Glaucomatous Optic Neuropathy: Genes to Disease Mechanisms, Therapeutic Drugs, and Gene Therapies - PubMed

rx:medications glaucoma gene-therapy • 5.2k views
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