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Ground breaking discovery of 50 new gene markers that increase a person’s risk of developing glaucoma

Professor Alex Hewitt 

Professor Alex Hewitt. 

There are some things in life we can’t control – genes are one of them. You can’t change your genetic makeup, your family medical history or your predisposition to certain diseases, including glaucoma. But, a better understanding of the genetics that cause eye disease to emerge will help us to diagnose and treat conditions like glaucoma.

In his blog for RANZCO, Professor Alex Hewitt, a senior author on work recently published in Nature Genetics and a clinical researcher at the Menzies Institute for Medical Research and the Centre for Eye Research Australia, explains a revolutionary discovery that could transform the diagnosis and treatment of glaucoma.

I’m excited to be part of the team of clinicians and researchers from across Australia that has just identified over 50 new gene markers that increase a person’s risk of developing glaucoma – one of the leading causes of irreversible blindness globally. Our discovery is ground breaking because it could lead to earlier diagnosis and intervention and moves us one step closer to preventative treatment that could stop people from losing their sight as they age.

This discovery is based on data from the UK Biobank, the International Glaucoma Genetics Consortium and the Australian and New Zealand Registry of Advanced Glaucoma which was established by Professor Jamie Craig from Flinders University and involves ophthalmologists from across Australia & New Zealand. Research grants from organisations like ORIA have been crucial in progressing our work and reaching this point.

Up until now, glaucoma treatments have focussed on reducing the pressure in the eye. This new work is important because we have identified a number of new genes that could be targeted in the development of new drugs.

Glaucoma has long been described as ‘the sneak thief of sight’ because it is generally asymptotic in the early stages of the disease and early treatment is vital because, once a person experiences vision loss, it is impossible to reverse.

Although a predictive test for glaucoma is not available yet, our new research will dramatically improve our ability to identify people at risk of developing glaucoma and, potentially, stop the disease in its tracks. This is a really exciting time to be involved in eye research, knowing that each discovery is taking us closer and closer to eradicating preventable blindness.

Professor Alex Hewitt was one of the recipients of the 2016 ORIA Grant to advance studies on using stem cells to understand glaucoma.

In supporting organisations like the ORIA, it’s remarkable what you can help to achieve.

Link to paper: https://rdcu.be/3CTh