Martin Turner

My group's research involves individuals diagnosed with amyotrophic lateral sclerosis (ALS), the commonest form of motor neurone disease (MND).

ALS is a progressive neurodegenerative disease that dramatically shortens the lives of the majority of those who develop it because there is no effective disease-modifying treatment as yet. It causes relentless weakness in the limbs and often speech and swallowing muscles, with loss of independence and eventual respiratory failure. Those who develop ALS have typically led healthy, active lives, and only a minority have a family history of the disease or the related condition frontotemporal dementia (FTD).

My group is trying to identify markers of disease activity across the different types of MND. These are called biomarkers. There is no test for MND, so diagnosis relies on the opinion of an expert neurologist, and any investigations are currently only to exclude other possible causes for the same symptoms (of which there are not many). Biomarkers might be able to shorten the delay of up to one year that many patients with MND have to wait to get a firm diagnosis. This might allow potential therapies to be introduced earlier, before there is spread of symptoms to more than one body region. It would also allow drug trials to be organised more efficiently, by categorizing patients according to disease activity, and making decisions about efficacy much sooner.

The Oxford Study for Biomarkers in MND ('BioMOx') is a platform for studying MND patient volunteers (of all different sub-types) who have agreed to undergo advanced magnetic resonance imaging (MRI) and magnetoencephalographic (MEG) studies of the brain along with spinal fluid and blood samples, to define potential biomarkers. We are also keen to study healthy volunteers and individuals with conditions that look similar to MND for comparison.

BioMOx has already identified a series of potential changes in the brains of MND patients that might be able to serve as biomarkers when combined together, and with substances identified in the blood and spinal fluid samples. I have been at the forefront of the development of a blood-based biomarker called neurofilament light chain, for which I was part of a team awarded the Sean M. Healey International Prize for Innovation in ALS in 2023. This biomarker formed the basis for a major collaborative award of £8m from the National Institute for Health & Care Research (NIHR) to set up the EXPErimental Medicine Route To Success in ALS (EXPERTS-ALS), which is being co-led by the Universities of Oxford & Sheffield.

Find out more at: https://www.experts-als.uk/

Another initiative: Families for the Treatment of Hereditary MND (FaTHoM), involves the study of individuals from families where members of successive generations develop MND, or sometimes FTD. This will allow us to identify the very earliest changes, and ways to intervene and prevent MND and FTD, with the aim of translating these findings to those already living with the disease.

Find out more at: https://www.ndcn.ox.ac.uk/fathom

A C9ORF72 National Registry (ACORN) is a flagship partnership with families affected by the commonest inherited cause of ALS and FTD: https://www.ndcn.ox.ac.uk/research/oxford-motor-neuron-disease-centre/research-projects/acorn-study

Aside from my research, as a consultant neurologist at the John Radcliffe Hospital I see patients with a range of other neurological diseases in my outpatient clinic. As one of the Associate Directors of the Oxford University Clinical Academic Graduate School, I have many years of experience in mentoring early career clinician scientists. I am Senior Research Fellow at Green Templeton College, and undertake regular teaching of Oxford University medical students, as well as educating junior doctors and regional GPs about all aspects of neurological disease. I chair the Case Report Podcast for the popular international journal Practical Neurology (https://pnbmj.podbean.com/).