Unravelling the genetic secrets of Huntington’s disease

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One of Monash University’s doctorate students, April Philpott, was a finalist in the Victorian Young Achiever’s Awards. April undertook her PhD in the Experimental Neuropsychology Research Unit, School of Psychological Sciences, headed by Professor Nellie Georgiou-Karistianis.

The goal of her research is to increase the understanding of early brain changes and their genetic links in Huntington’s disease (HD).

About 1600 Australians have the disease, which is a genetic neurodegenerative disorder with no cure or disease-modifying treatments. Symptoms comprise changes in movement, thinking, mood and behaviour.

According to Ms Philpott, the relationship between what happens in the brains of people with HD and the motor, cognitive and behavioural changes associated with the disorder remain poorly understood.

“Despite decades of research since the gene mutation was discovered in 1993, little is known about how the disease progresses and how to stop it,” she said.

Traditional neuroimaging technologies, including MRI, have increased the understanding of structural and functional brain changes, but new technologies are required to investigate brain cells at a functional level. Which is where Ms Philpott’s research comes in.

She is using a less-utilised technique known as transcranial magnetic stimulation (TMS) to measure underlying neurophysiology of brain cells, with the goal of identifying a biomarker of neurodegeneration which could inform the design of future clinical trials.

Ms Philpott has recruited the world’s largest study of people who are gene positive for HD but have yet to develop symptoms of the disease.

“Testing such people is crucial to determine what happens to trigger the onset of symptoms. Once we know this we can potentially block or slow down these symptoms,” she said.

Ms Philpott’s doctorate supervisor, Professor Georgiou-Karistianis, congratulated her student on being a finalist in the Victoria Young Achiever Award, Research Impact Award category.

“April was one of four finalists for this award. This is such a great honour for April, and for our lab. It is recognition of the world-class research that she is doing, as well as the potential life changing consequences it may have for patients.”

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Source: Monash University

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