SAndra Gerschwitz remembers standing in the field as a child and watching the sprinkler go by and the chemicals fall to the ground on neighboring farms on South Australia’s Eyre Peninsula. “Only when my father was around he would say, ‘Get in the car, don’t come here,'” Gerschwitz says.
Since she was diagnosed with Parkinson’s in 2019, Gerschwitz has had to wonder what caused the disease. Although the latest research shows that environment, plastics and pollution are factors linked to the increase in the disease, researchers are largely unsure of exactly why this disease occurs.
Parkinson’s is a neurodegenerative disorder in which the nerve cells in the brain do not produce 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 to put the sheets on the clothesline because she couldn’t manage to hold the pegs and the sheet at the same time.
Those who develop Parkinson’s before age 50, like Gerschwitz, are known to have early-onset Parkinson’s disease.
Research led by Dr Kishore Kumar, from the Translational Neurogenomics Group at the Garvan Institute of Medical Research, will analyze the DNA of 1,000 Australians who either have early-onset Parkinson’s disease or have a positive family history from at least two relatives who are affected by the disease.
“Up to 14% of Parkinson’s patients have a gene mutation that causes Parkinson’s, and the drive to understand the genetics of Parkinson’s is an increasingly important part of understanding the disease,” says Kumar.
For Gerschwitz, genetic testing gave her the knowledge that the disease does not run in any of her family lines. It was a “great relief” that she would not genetically pass it on to her three children. But she wonders, “If I didn’t get it genetically, why did I get it?”
“We don’t know much about the cause of Parkinson’s disease. There are huge gaps in our knowledge and by understanding genetics we hope to fill those gaps in our knowledge,” says Kumar.
Kumar has received $3 million from the government’s $66 million Medical Research Future Fund, which he will use to recruit and perform genome sequencing on 1,000 Australian patients, following the Australian Parkinson’s Genetic Study (QIMR Berghofer) and an international study, the Global Parkinson’s Genetic Program.
Currently, all patients with Parkinson’s are treated with dopamine, but if in the future genetic testing were combined with a neurologist taking the 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 that increasing rates of Parkinson’s disease, which have doubled since 2005 and are expected to double again by 2040, not related to genetics. , but for the environment, plastic and pollution.
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“Parkinson’s is not a genetic condition, but information from people with Parkinson’s can help future generations and devise future therapies,” says Finkelstein.
“This research is important because of what it could mean for future generations.”
Finkelstein also emphasizes that people with a genetic predisposition to Parkinson’s, as Google co-founder Sergey Brin discovered, will not necessarily develop the disease.
Research has shown that under certain circumstances, only one in three people with a genetic predisposition to Parkinson’s will develop the disease, Finkelstein says.
Health Secretary Mark Butler says “the first step to prevention and treatment is diagnosis, and genomics holds the promise of earlier and more certain diagnoses for a range of conditions such as Parkinson’s disease.”
“People involved in this research will receive information that will also help better diagnose and inform their own treatments.”