RHIANNON BOWMAN 2023, Insight Magazine.

International research led by QIMR Berghofer has found hundreds of new genes linked to a person’s risk of developing glaucoma, including key genetic targets that could, for the first time, pave the way for treatments that prevent the retinal damage that causes blindness.

The findings, from the largest-ever global genetic study of the degenerative eye disease, have been published in the prestigious journal Nature Genetics and is available here.

The research significantly advances academia’s understanding of the genetics of glaucoma, building on a previous 2021 study to identify another 185 previously unknown genes linked to glaucoma risk, bringing the total number to 312 genes.

Lead researcher and internationally-recognised genetic epidemiologist Professor Stuart MacGregor, who heads QIMR Berghofer’s Statistical Genetics Laboratory, said the discoveries could rapidly accelerate a new approach to treatment.

“Existing treatments focus only on lowering eye pressure. The dream has always been to find a way to make the retina itself stronger so it can withstand the build-up of pressure and prevent the damage that causes permanent blindness,” MacGregor said.

“Our findings are really exciting because for the first time we’ve discovered the set of genes that could be targeted to induce this ‘neuro-protection’ in the retinal cells. We’ve also identified existing drugs that could be used on those genetic targets. This could rapidly advance effective treatment to finally prevent retina and optic nerve damage.”

Repurposing drugs has many benefits including faster translation of research findings into treatments for patients because the drugs have already been proven safe in humans.

Lead author Associate Professor Puya Gharahkhani from QIMR Berghofer said the findings are also helping to develop a genetic test to predict a person’s risk of developing glaucoma.

“Glaucoma is one of the most strongly genetic of all human diseases. We can use our genetic discoveries to identify those who are at higher risk. If we can find people before the disease develops, we can prevent blindness in those people,” Gharahkhani said.

The researchers are hoping to collect more data to increase the accuracy of their genetic prediction tool and find even more genes linked to glaucoma risk.

“We want to prevent glaucoma from robbing people of the ability to drive and read and recognise their loved ones, but we need your help to do this.”

The goal is to be able to offer the genetic test to everyone in the community in the near future.

For more information about the study visit https://www.qimrberghofer.edu.au/genetics-of-glaucoma/.

Previous genetic studies of glaucoma have focused on people of European ancestry, however, glaucoma rates are highest in people of African and Asian ancestry. This research combined data from across the globe on an unprecedented scale.

“The global nature of our data allowed us to identify a large number of glaucoma risk genes, and to also discover that most of those genes are actually shared across different ethnic ancestry groups,” Gharahkhani said.

“This means that genetic tests for glaucoma are likely to work well across a wide range of ancestries.”

The research also found, for the first time, links between glaucoma risk and diabetes and immune diseases such as multiple sclerosis.

“Some of our drug discovery work suggests that certain existing treatments for other diseases, such as the diabetes drug Metformin, may have potential for use in glaucoma,” MacGregor said.


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