Parkinson’s disease is the world’s fastest growing neurogenerative condition and second only to Alzheimer’s in number of cases. Predicted to double in by 2040, it currently affects an estimated 200,000 Australians.

Typically, the route to diagnosis involves subjective functional tests and ruling out other conditions like Alzheimer’s, multiple sclerosis, Huntington’s disease or motor neuron disease.

Parkinson’s has around 40 symptoms that vary from day to day in severity. The earliest symptoms are frequently misdiagnosed in the early stages of the disease, often dramatically impacting the quality of life of those affected and their families.

In 2023 researchers published a breakthrough in The Lancet Neurology that a biomarker for Parkinson’s had been found. They discovered that abnormal alpha-synuclein, a protein central to the disease, could be detected in the spinal fluid of people with Parkinson’s and those not yet diagnosed but at risk.

The drawback was that the test requires a lumbar puncture, or spinal tap, to access spinal fluid for analysis – not a simple procedure that can be done using a sample taken by any GP or nurse in a clinic. While the spinal fluid test is a milestone, the search continues for a minimally invasive, scalable test that can be used in routine clinical practice.

As well as being important for diagnosis and tracking the progression of Parkinson’s, biomarkers are crucial when new drugs are tested in clinical trials, allowing accurate analysis of results to avoid false positives or negatives.

Abigail, a volunteer consumer advocate at WEHI who lives with Parkinson’s, said that getting a diagnosis can take a long time, with some people being misdiagnosed.

“Having a test that can be done using a blood test would be welcomed by people with Parkinson’s and their families and would mean earlier access to interventions that help improve quality of life,” she said.

The newly funded study will build on the WEHI team’s recent discovery that people with Parkinson’s generally have lower mitochondrial DNA copy numbers due to changed blood cell type composition.

Their research, which utilised a robust dataset from thousands of participants, showed that lower numbers were linked to more severe symptoms.

WEHI’s Prof Bahlo and Dr Wang will lead the bioinformatics arm of the new international working group, seeking to find the best way to assess if the mitochondrial DNA features can be used as a blood-based biomarker for Parkinson’s.

Using computational methods, the team will develop a new analysis pipeline that processes genetic datasets, analyses mitochondrial DNA and provides a more complete picture.

Meanwhile their colleagues in the working group will test the same principles in the wet lab using traditional biochemical tests with biospecimens from Parkinson’s patients.

Bioinformatician Dr Wang said the team’s goal is to identify the best way to profile mitochondrial biomarkers to enable large studies, laying the groundwork for precision therapies and improved clinical trial design.

“This will be the first time that a direct comparison of traditional and computational approaches will have been done in this field,” she said.