A new, in-depth genetic map of glaucoma, the world’s largest cause of permanent blindness, will aid researchers in developing new treatments to combat the condition by pinpointing possible target areas for halting or reversing vision loss.

A new, precise genetic map of glaucoma – the largest cause of irreversible blindness in the world – will aid in the development of new medications to tackle the condition by identifying possible target regions to halt or reverse vision loss.

The study, which is one of the largest and most comprehensive stem cell modeling studies for any disease ever published, was published today in Cell Genomics.

For the first time, researchers discovered more than 300 new genetic characteristics in retinal ganglion cells from persons with Primary Open Angle Glaucoma and those without the condition.

Professor Alex Hewitt (Centre for Eye Research Australia, University of Melbourne and University of Tasmania), Professor Alice Pébay and Dr Maciej Daniszewski (University of Melbourne), and Ms Anne Senabouth and Professor Joseph Powell (University of Melbourne) coordinated a nationwide partnership (Garvan Institute of Medical Research).

Professor Hewitt, who is also the Head of Clinical Genetics at CERA, believes that the research will help researchers better understand the mechanisms that harm retinal ganglion cells and cause glaucoma.

This will aid researchers in the development of new glaucoma treatments by finding new areas to target in order to slow or reverse vision loss caused by the condition.

Vision requires healthy retinal ganglion cells, which transfer visual information from the eye to the brain via the optic nerve. The slow damage and death of these cells in glaucoma causes a cumulative, irreversible loss of vision.

Professor Hewitt explains, “Glaucoma is often an inherited condition and comparing diseased retinal ganglion cells with healthy one is an effective way to increase our understanding of the mechanisms that contribute to vision loss.”

“Until recently that’s been impossible because you cannot obtain or profile retinal ganglion cells from living donors without an invasive procedure,” adds Professor Pébay, whose team led the stem cell components of this work.

To address this obstacle, the researchers employed Nobel Laureate induced pluripotent stem cell (iPSC) technology to ‘reprogram’ skin cells from donors into stem cells, which were subsequently transformed into retinal ganglion cells in the lab.

They then mapped the genetic expression of nearly a quarter of a million cells to find traits that could influence how genes are expressed in the cell, affecting its function and possibly contributing to eyesight loss.

The researchers discovered 312 distinct genetic characteristics in retinal ganglion cell models that they believe should be investigated further.

“he sequencing identifies which genes are turned on in a cell, their level of activation and where they are turned on and off – like a road network with traffic lights,” notes Professor Powell, whose team led the analysis of the world-leading dataset.

“This research gives us a genetic roadmap of glaucoma and identifies 312 sites in the genome where these lights are blinking.”

The next stage in developing novel therapeutics to prevent glaucoma will be determining which of these traffic lights should be turned off or on.

Professor Hewitt, an ophthalmologist, claims that the findings reveal hundreds of new targets for researchers working on novel medications to treat glaucoma, which is expected to afflict more than 80 million people worldwide by 2040.

Current treatments are confined to delaying vision loss by lowering eye pressure – but they don’t work for everyone, and some people continue to lose numerous retinal ganglion cells and eyesight while having normal eye pressure.

This study’s vast collection of genetic data is an essential first step toward creating new treatments that go beyond lowering ocular pressure and can restore damage and vision loss.

Image Credit: Getty

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