Investigating whether cell-free DNA in the blood can be used to help diagnose MND and predict disease progression.
Principal Investigator: Dr Emma Dempster
Lead Institution: University of Exeter
MND Association Funding: £245,604.15
Funding dates: September 2025 - August 2028
About the project
When cells are dying, DNA from within the cell is released into circulation and can be detected in the blood. This DNA is called cell-free DNA (cfDNA) and it carries information, like a 'signature', about the type of cell it has come from and the health of the cell it has come from. This project aims to develop a diagnostic blood test for MND that uses these cfDNA signatures from dying nerve cells. The researchers will compare the signatures in the blood of people with MND and healthy controls, to identify specific cfDNA markers that can be used to detect MND in the blood. They will also look at changes in the cfDNA in samples from people with MND over time, to explore whether changes in cfDNA can be linked to clinical changes as the disease progresses, such as symptoms and quality of life.
What could this mean for MND research?
It is hoped that identification of these cfDNA biomarkers will enable the development of a simple blood test that can help inform earlier diagnosis and predict disease progression in MND. As nerve cells die in people with MND before symptoms start, it is hoped that the test will be able to show nerve cell death before symptoms start, which might be useful for people known to be at risk of developing MND. Achieving earlier diagnosis could help people with MND to access clinical trials, treatments and care sooner.
Project code: 2484-791