Australian scientists conduct stem cell research unveiling a detailed genetic roadmap of glaucoma
Stem cell research that has unveiled a detailed genetic roadmap of glaucoma – the world’s leading cause of irreversible blindness – will help scientists develop new drugs to combat the disease by identifying potential target areas to stall or reverse vision loss. The research, one of the largest and most detailed stem cell modelling studies reported for any disease, is published in Cell Genomics.
According to a news release from the University of Melbourne, by comparing stem cell models of the retinal ganglion cells of people with Primary Open Angle Glaucoma to those without the disease, more than 300 novel genetic features of these cells were uncovered. The study will lead to a better understanding of the mechanisms that damage retinal ganglion cells and lead to the onset of glaucoma. Investigators noted that this will help them develop new drugs to combat glaucoma, by identifying potential new areas to target to stall or reverse vision loss caused by the disease. Healthy retinal ganglion cells – which transmit visual information from the eye to the brain via the optic nerve – are essential for vision. In glaucoma, the gradual damage and death of these cells leads to a progressive, irreversible decline in sight.
The Researchers cannot obtain or profile retinal ganglion cells from living donors without an invasive procedure. That in order to clear this hurdle, the team used induced pluripotent stem cell (iPSC) technology to ‘reprogram’ skin cells provided by donors into a stem cells that were then turned into a retinal ganglion cell in the lab. They then mapped the individual genetic expression of almost a quarter of a million cells to identify features that could impact on the way genes are expressed in the cell, impacting its function, and potentially contributing to vision loss.
They identified 312 unique genetic features in the retinal ganglion cell models that warrant further investigation. The research provides hundreds of new targets for researchers developing new drugs to treat glaucoma which is predicted to affect more than 80 million people globally by 2040. Current therapies are limited to slowing vision loss by reducing pressure in the eye – but they do not work for all patients and some people continue to lose many retinal ganglion cells and vision despite having normal eye pressure. The rich source of genetic information generated by this research is an important first step towards developing new treatments that go beyond lowering eye pressure and can reverse damage and vision loss.
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