In a significant medical breakthrough, scientists have created a blood test capable of detecting motor neurone disease (MND) with remarkable 97 per cent accuracy, potentially long before symptoms appear. This development promises to drastically cut diagnosis delays and allow patients to begin supportive care and therapies much sooner.
The Science Behind the Diagnostic Breakthrough
Researchers from the US-based not-for-profit Brain Chemistry Labs spearheaded the project, analysing a total of 788 blood samples. Roughly half came from patients already diagnosed with the disease, with the other half serving as controls from unaffected individuals.
The test focuses on microRNAs – tiny fragments of genetic material circulating in the blood that regulate cell function. When disease is present, the patterns of these microRNAs change, allowing them to act as biological markers, or biomarkers. The team successfully identified eight specific microRNAs linked to MND, establishing the test's parameters using 449 initial samples.
Using a laboratory technique called quantitative polymerase chain reaction (qPCR) to analyse the remaining samples, the test demonstrated its high precision. It correctly identified patients with motor neurone disease 97 per cent of the time and accurately ruled it out in 93 per cent of people without the illness.
Transforming the Patient Pathway and UK Impact
This innovation directly addresses one of the most critical challenges in MND care: the agonising delay in diagnosis. Dr Paul Alan Cox, executive and co-founder of Brain Chemistry Labs, emphasised the urgency, stating: ‘For ALS, which typically results in loss of life within 2–5 years from the appearance of symptoms, a delay of one year in receiving a diagnosis is simply unacceptable.’
Senior researcher Dr Rachel Dunlop highlighted the clinical benefit: ‘This new test means that patients can initiate therapy early in the disease.’ Earlier diagnosis enables quicker access to multidisciplinary specialist care, symptom management, and eligibility for clinical trials, even though a cure remains elusive.
The findings, recently published in the journal Molecular Neurobiology and presented at the International Symposium on ALS/MND, have immediate relevance for the UK. Approximately 5,000 adults in the UK are currently living with motor neurone disease, with amyotrophic lateral sclerosis (ALS) being the most common form.
A Disease Thrust into the Spotlight
Motor neurone disease has garnered increased public attention following high-profile cases. Earlier this year, former England rugby union international Lewis Moody revealed his diagnosis at age 47. This news followed the death of rugby league legend Rob Burrow in 2024, who became a powerful campaigner after his 2019 diagnosis.
The condition, which progressively affects nerves controlling movement, leading to muscle weakness, loss of speech, and difficulty breathing, was also highlighted by actor Eric Dane (Grey’s Anatomy). Perhaps the most renowned case remains that of physicist Professor Stephen Hawking, who lived with the disease for over 40 years – an exceptionally long survival.
Following the successful results, Dr Sandra Banack confirmed the team's next step: ‘We are seeking to identify a diagnostic firm to make this test commercially available.’ Moving from the laboratory to clinical use could revolutionise the diagnostic journey for thousands.
