New genetic study of Australians living with Parkinson’s disease
The causes of degenerative brain disease are largely unknown, although experts say aging, genetics and environmental factors can trigger its onset.
The study is looking for 10,000 Australians with Parkinson’s disease to donate their saliva samples to help dig deeper into the genetics of the disease.
Researchers from the Queensland Institute of Medical Research (QIMR) will then extract the DNA and analyze it.
“The more genetic variants we find, the better we understand the pathways that actually cause the disease,” said the study’s lead researcher, Professor Nick Martin of QIMR Berghofer.
“We already have about ten genes implicated in the etiology of this disease.”
The main goal is to improve diagnostics and design new drugs to prevent the disease.
The study is funded by the Shake It Up Australia Foundation and the Michael J. Fox Foundation.
“Most definitely this is going to lead us to a better understanding of what genetics contribute to Parkinson’s disease,” said Clyde Campbell, CEO of the Shake It Up Australia Foundation.
“We have 10,000 people we hope to be able to work with in Australia and that becomes 150,000 of the global patient study, so it’s a huge study.”
Earlier findings involving 1,500 Australian patients provided a snapshot of historical environmental exposures.
The study, published in the British Medical Journal, found that 34% of patients said they had been exposed to pesticides or herbicides at some point in their life.
A third of the sample said they had worked in a high-risk occupation that included the welding, flour milling, petrochemical and agricultural industries.
Sixteen percent of the sample had suffered a head injury and there was a significant positive relationship between the age of the head injury and the age of onset of the first symptom.
Although experts say these results need to be replicated, it enhances their understanding.
“What we are seeing is that there are pockets of people with Parkinson’s in and around the Australian community,” Mr Campbell said.
“We want to understand why these pockets exist.”
Marty Cobcroft, 61, took part in the pilot study and said it was crucial that others contribute.
Since being diagnosed with Parkinson’s disease in 2018, he has found it harder to move and balance issues make him more vulnerable to falls.
“You try to do everything much more slowly, but it’s hard to break the habits of a life where you jump out of the chair like you’re 25,” he said.
Her first symptoms started with shaking of her legs and loss of sense of smell.
“I got surprised by my wife because I bought this perfume which I really liked,” he said.
But when she wore the perfume for their wedding anniversary, he smelled nothing.
With the help of medication, physiotherapy and exercise, Mr. Cobcroft is learning to adjust to this new chapter in his life.
“I want to tell people that you can live with and still be satisfied with your life,” he said.
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