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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