This project explores whether gene expression patterns in blood could help detect MND earlier. 

The team previously identified a group of genes with distinct expression patterns in the blood and motor cortex of people with MND. Now, they’re validating these findings using UK Biobank samples, including people who later developed MND, to look for biological changes that appear before symptoms start. 

By using samples from people with MND, other neurodegenerative conditions, and healthy individuals, they’re testing how specific the gene panel is to MND. They also plan to develop software that assigns a risk score based on gene expression, which could help GPs identify patients who need specialist referrals. 

Potential impact: A non-invasive blood test that could help GPs identify people at risk of MND earlier and identify patients for clinical trials. 

This project is testing whether a signature of non-coding RNA (ncRNA) molecules in the blood could provide a new diagnostic tool for MND. 

The team previously identified a panel of 47 short ncRNA molecules that appeared to be dysregulated in people with MND. Now, they’re using a custom-made assay to measure these in blood samples from people with MND and healthy volunteers, to validate their findings. 

They’re also working with other researchers to test the panel in an independent validation group and using machine learning to explore whether specific ncRNA patterns could be used to diagnose or track disease progression. 

Potential impact: A molecular signature in the blood that could aid diagnosis or offer clues about disease progression. 

This project is developing an automated tool that scans general practitioner (GP) records for symptoms and flags patients who may need a specialist referral. 

The existing “Red Flag” tool, developed by the MND Association and the Royal College of General Practitioners, helps GPs identify symptoms that could indicate MND. However, a limited number of GP surgeries are using it routinely. 

MND Alert is a feasibility study building a software tool that runs in the background of GP systems, scanning patient records for concerning patterns of symptoms. For example, if muscle weakness and slurred speech appear together, the tool can prompt the GP to consider a neurological referral. 

The software builds on the Red Flag tool but adapts it for digital records and coding systems used in GP practices. The team is testing an early version in 30 GP practices and gathering feedback from clinicians. 

Potential impact: A simple alert system embedded in GP software that could reduce delays in referring patients from primary care to specialist services.  

This project is developing an at-home test to detect the MND-linked protein, TDP-43, in stool samples. 

TDP-43 is a protein that accumulates in brain tissue of people with MND and is a well recognised hallmark of the disease. The test uses aptamers, which are synthetic molecules designed to bind tightly and specifically to TDP-43. If successful, it could be used to screen people with early symptoms and prioritise them for further investigation. 

Potential impact: A simple non-invasive screening test that could support earlier diagnosis and potentially monitor disease progression in clinical trials. 

This project is investigating whether a molecule called polyP can reliably distinguish people with MND from healthy individuals or those with other neurological conditions. 

Previous research suggests that polyP levels are altered in the spinal fluid of people with MND. The team is developing a sensitive and scalable test to detect polyP in blood samples, making it easy to use in clinical settings. 

Potential impact: A novel biomarker that could support earlier diagnosis and help track disease progression.