Flinders researchers find new marker for glaucoma
A person’s chance of developing glaucoma – the leading cause of blindness worldwide – could now be easier to predict following the discovery of three new disease-related genes by Flinders University researchers.
The findings, which have just been published in two papers in the prestigious international science journal Nature Genetics, identified changes in genes ABCA1, AFAP1 and GMDS that increase the risk of developing glaucoma.
Glaucoma is the collective name for eye diseases causing irreversible loss of peripheral vision, usually from too much pressure accumulating inside the eyeball. About one in 10 Australians over the age of 80 will develop glaucoma. At present, about half of all cases are undiagnosed.
The studies, led by Professor Jamie Craig from Flinders University’s Centre for Ophthalmology, Eye and Vision Research, analysed data from 1,155 patients on the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) – the world’s largest collection of advanced glaucoma cases – with the results compared against 2,000 samples from a control group.
The findings have also been verified by collaborators in the US, as well as an independent Chinese study which identified the gene ABCA1 as having a role in glaucoma in a large Asian population.
Professor Craig, who developed the ANZRAG, said that while there is a well-established family link in glaucoma, only a small number of disease-causing genes have been identified.
“We know there’s a strong hereditary component; first-degree relatives of glaucoma patients are actually nine times more likely to develop the disease, but the genes associated with the family link are not well known,” Professor Craig said.
“By understanding the disease at a genetic level, we’re developing a much clearer picture of the risk factors for glaucoma,” he said.
Professor Craig said the team is now working on a National Health and Medical Research Council funded project to determine the risk of people losing their vision if they develop glaucoma, based on the newly identified genetic markers.
By identifying people who are at a high risk of developing glaucoma, Professor Craig said clinicians will be better equipped to detect and treat the disease at an earlier stage to minimise vision loss, and also to prevent its progression in people with a family history.
“In general, people with glaucoma will do well if the disease is detected early and treated, but a lot of people don’t realise they have it until they lose their vision.
“If we can predict people who are particularly at-risk based on these genetic markers we could tailor treatments to them, potentially saving their sight in the future.
“Genetic research is, however, a long process, and it will take several years of further research before the role of these new genes can be fully understood.”
Article originally published in Indaily by Emily Charrison, Flinders University | 5 September 2014
US researchers hone in on blinding eye diseases at FMC
US Scientists Liam Ashander (left) and Andrew Stempel (right) are undertaking research at Flinders Medical Centre (FMC) in a bid to prevent eye disease and blinding eye conditions.
The researchers hope to stop Uveitis - an inflammation in the human eye which can lead to a loss of vision and is often caused by autoimmune disorders such as spondylitis and/or infections such as toxoplasmosis – a parasitic disease.
The research projects, funded by the National Institute of Health (USA) and National Health and Medical Research Council, utilise tissue donations from the Eye Bank of South Australia, located at FMC.
Andrew said working closely with the Eye Bank and receiving the “wonderful gift of human eye tissue” presented a rare and exciting opportunity.
“In the USA, availability of human eye tissue to conduct research is infrequent and costly,” he said. “A lot of important medical research is conducted in experimental models, but research using human tissue goes right to the heart of the problem as it occurs in patients.”
Uveitis is responsible for about 10 per cent of blindness in Western nations, and approximately 50 per cent of people with uveitis in their retina lose vision. The researchers began their studies about a month ago.
Article originally published in News@FMC July 2014.
Flinders University researcher Dr Tiger Zhou has won a prestigious Lions Medical Research Foundation Scholarship in Medicine to search for genes that cause glaucoma – the world’s leading cause of irreversible blindness.
Valued at $105,000 over three years, the scholarship will assist Dr Zhou to undertake a PhD to identify genes associated with glaucoma, based on DNA blood samples from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG).
Statistics show one in 10 Australians over the age of 80 will develop glaucoma. At present, about 50 per cent of people with the disease remain undiagnosed.
Dr Zhou, who completed his Bachelor of Medicine and Surgery from Flinders in 2011, said glaucoma usually runs in families, with first-degree relatives of glaucoma patients having a nine-fold increased risk of developing the disease.
Despite the well-established genetic link to glaucoma based on family inheritance, Dr Zhou said only a small number of disease-causing genes have been determined.
“The most common gene that’s linked to glaucoma is the myocilin gene, which accounts for three to four per cent of all glaucoma cases,” Dr Zhou, based in the Department of Ophthalmology, said.
“There are a handful of other genes that we know about but for the vast majority of cases, we still don’t know the genetic cause,” he said.
“As there is often a positive family history, it is highly likely other genes are involved – it’s just a matter of finding them.”
Dr Zhou, who is being supervised by leading glaucoma expert, Flinders Associate Professor Jamie Craig, said he will use “next generation exome sequencing” among other genetic techniques to carry out his research.
“The human DNA follows a distinct recipe and each gene is an ingredient. My research will look closely at the recipe, or gene sequence, in people with glaucoma to identify changes that may have led to their disease.”
By identifying the genetic fabric of glaucoma, Dr Zhou said clinicians will be better equipped to detect the disease at an earlier stage, thereby reducing the risk of blindness, and also to prevent its progression in people with a family history.
A better understanding of the disease at a genetic level also has the potential to result in new treatment targets in the future.
“Glaucoma is often called the silent thief of sight because patients don’t usually notice changes until there’s significant, irreversible damage to the optic nerve.
“If we can discover more genes related to glaucoma we will know which patients are at risk so they can be treated earlier and more aggressively, to prevent vision loss.”
Dr Zhou thanked the participants in his study, and is appealing for more glaucoma patients to donate blood samples to the ANZRAG, based at Flinders Medical Centre.
For more information on the study or to donate please contact ANZRAG on 8404 2035.
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