Canadian researchers have uncovered a genetic signature in the blood that could one day revolutionize how we detect Parkinson’s disease—quickly, accurately, and without brain scans.
Key Points at a Glance
- Researchers identified a blood-based genetic signature unique to Parkinson’s disease
- New single-cell RNA sequencing technology made this discovery possible
- The signature allows clear distinction between Parkinson’s and other Parkinsonian syndromes
- This could lead to faster diagnosis and better-targeted clinical trials
Parkinson’s disease has long eluded early diagnosis, often hiding behind vague symptoms and overlapping with rarer neurological disorders. But a team led by Martine Tétreault at CRCHUM and Université de Montréal may have just changed that. Their discovery: a blood-based genetic fingerprint that could detect Parkinson’s earlier and more reliably than ever before.
Published in Brain, the study marks a world first. Using state-of-the-art single-cell RNA sequencing, researchers identified a set of immune cell biomarkers that are uniquely active in people with Parkinson’s. These biomarkers reveal heightened activity in stress-related genes within immune cells, effectively forming a disease-specific genetic “signature.”
“We found that immune cells in Parkinson’s patients are behaving differently,” says Tétreault. “They’re overexpressing stress genes—and together, those changes form a clear signature of the disease.”
The implications are profound. In the study, 14 Parkinson’s patients and 6 patients with other Parkinsonian syndromes were compared to 10 healthy individuals. The results showed that the gene signature could reliably distinguish Parkinson’s from similar conditions like progressive supranuclear palsy (PSP) or multiple system atrophy (MSA)—two disorders that are often misdiagnosed due to their clinical resemblance.
Currently, there are no definitive blood-based diagnostic tests for Parkinson’s. Diagnosis relies heavily on neurological exams and, in complex cases, brain imaging—both of which are expensive and not always accessible. This new method could represent a paradigm shift: fast, affordable, and available through a simple blood sample.
The study also paves the way for better-targeted treatments and improved clinical trials. “Knowing who truly has Parkinson’s is essential,” says Tétreault. “These biomarkers can help us select the right patients for drug trials, potentially accelerating the path to more effective therapies.”
Importantly, the research team is making their entire immune cell subtype atlas public, giving scientists around the world access to a new diagnostic and research tool. The team’s efforts were supported by the Courtois Foundation and the Weston Family Foundation, along with dedicated CHUM neurologists and participating patients.
With over 110,000 Canadians currently living with Parkinson’s—and that number projected to rise to 150,000 by 2034—early diagnosis is more critical than ever. This genetic blood test may be the breakthrough patients and physicians have been waiting for.
“It’s about getting answers sooner, and with greater certainty,” says Tétreault. “And it starts with a drop of blood.”
Source: CRCHUM
