‘Why did I get it?’: Australian research into early onset Parkinson’s hopes to give patients answers | Parkinson’s disease

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Sandra Gerschwitz remembers standing in the paddock as a child watching the crop duster go past and seeing the chemicals falling to the ground on the neighbouring farms in South Australia’s Eyre peninsula. “It was only if my dad was around he would say, ‘Hop in the ute, don’t be out here,’” Gerschwitz says.

Ever since she was diagnosed with Parkinson’s in 2019, Gerschwitz has been left to ponder what caused the disease. While the latest research shows environment, plastics and pollution are among the factors linked to increased rates of the disease, researchers largely don’t know exactly why it occurs.

Parkinson’s is a neurodegenerative condition where the nerve cells in the brain don’t make enough dopamine, which affects movement, resulting in common symptoms such as tremors, muscle stiffness and slowing of movement.

Gerschwitz was 37 years old when her first symptom appeared; she found herself stumped putting the sheets on the clothesline, unable to manage holding the pegs and the sheet at the same time.

Those who get Parkinson’s before the age of 50, like Gerschwitz, are known as having early onset Parkinson’s disease.

Research led by Dr Kishore Kumar, of the Translational Neurogenomics Group at the Garvan Institute of Medical Research, will analyse the DNA of 1,000 Australians who either have early onset Parkinson’s disease or a positive family history of at least two family members affected by the disease.

“Up to 14% of Parkinson’s patients have a gene mutation which causes Parkinson’s, and the drive to understand the genetics of Parkinson’s is an increasingly important component in understanding the disease,” Kumar says.

For Gerschwitz, genetic testing gave her the knowledge the disease wasn’t in either of her family lines. It was a “big relief” she wasn’t going to pass it on genetically to her three children. But she is left asking: “If I didn’t get it genetically, why did I get it?”

“We don’t know a lot about what why Parkinson’s occurs. There are big gaps in our knowledge and by understanding the genetics, we hope to fill in those gaps in our knowledge,” Kumar says.

Sandra Gerschwitz with her children
Sandra Gerschwitz (centre) says genetic testing revealing her Parkinson’s wasn’t in either of her family lines was a ‘big relief’ she wasn’t going to pass it on genetically to her children. Photograph: Sandra Gerschwitz

Kumar has received $3m from the government’s $66m Medical Research Future Fund, which he will use to recruit and carry out genome sequencing on 1,000 Australian patients linking up with the Australian Parkinson’s Genetic Study (QIMR Berghofer) and an international study, the Global Parkinson’s genetic program.

At present, all patients with Parkinson’s are treated with dopamine, but in the future if genetic testing were incorporated alongside a neurologist taking a history and examination, patients could receive treatment that targets any underlying genetic abnormality, Kumar says.

Prof David Finkelstein, head of the Parkinson’s Disease Laboratory at the Florey Institute of Neuroscience and Mental Health, says the latest research shows increasing rates of Parkinson’s disease, which has doubled since 2005 and is projected to double again in 2040, is not related to genetics, but to the environment, plastics and pollution.

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“Parkinson’s isn’t a genetic disorder, but information from people living with Parkinson’s may help future generations and devise future therapies,” Finkelstein says.

“This research is important because of what it may do for future generations.”

Finkelstein also emphasises that people who carry a genetic predisposition towards Parkinson’s, Google co-founder Sergey Brin discovered, will not necessarily get the disease.

Research has shown that in some conditions only one in three people with the genetic predisposition towards Parkinson’s get the disease, Finkelstein says.

The health minister, Mark Butler, says “the first step to prevention and treatment is diagnosis, and genomics hold the promise of providing earlier and more certain diagnoses for a range of conditions like Parkinson’s”.

“People involved in this research will be provided with information that will also help better diagnose and inform their own treatments.”

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