The smaller things in lifeDecember 18, 2011
Paediatric ophthalmologist Dr Jon Ruddle knows all too well the devastating effect that eye disease can have on young people.
It’s one of the reasons he chose to specialise in paediatric ophthalmology after returning from Fellowships at Moorfields Eye Hospital and Great Ormond Street Children’s Hospital in London.
Dr Ruddle said the challenges of the role are far outweighed by the resilience of his little patients and the rewarding nature of the work.
“When you treat a child for vision problems you’re potentially improving their vision for 80 years. It’s work that has an important and long-lasting impact,” he said.
As a Research Fellow within CERA’s Clinical Genetics Unit, Dr Ruddle was part of the team that discovered TUBB3 – a gene associated with a rare subtype of the common childhood eye disorder, strabismus.
Strabismus – the condition that causes ‘turned’ or ‘crossed’ eyes – affects one in 50 Australians.
The project was a collaborative effort with Harvard University that spanned more than 15 years and involved a large team of people.
“The discovery was important because it has helped build understanding of the development of the nerves that control eye” Dr Ruddle said.
“We found that the TUBB3 gene drives the development of the nerves that control the eye muscles. This rare form of strabismus occurs when mutations in this gene cause the abnormal development of these nerves,” he said.
“We also found that the mutations can interfere with the brain’s ability to wire up properly which, in severe cases, can lead to intellectual, behavioural and social disabilities.”
Dr Ruddle expects that CERA’s genetic research capacity will greatly improve with the introduction of a vast bank of genetic information known as the Melbourne Biobank for Eye Disease or MBED.
“Through the bank, we’ll collect blood and clinical information from people with eye disease and people with healthy eyes who’ll be control participants,” Dr Ruddle said.
“Over time, the bank will become a major repository of data for investigating the genetic and environmental causes of eye disease, and developing new treatments.”