|PA||Sue Ball and Linda Phillipson|
MA (Cantab.) MBBS PhD FRCP (Lond.)
Professor of Clinical Neurology & Neuroscience
- Consultant Neurologist
- Medical Research Council Senior Clinical Fellow
Biomarker development in motor neuron disease
My group's research involves patients diagnosed with Motor Neuron Disease (MND), known in its commonest form as Amyotrophic Lateral Sclerosis (ALS).
MND 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 MND 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 blood, and sometimes also spinal fluid 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.
With the award of a Senior Clinical Fellowship from the Medical Research Council and Motor Neurone Disease Association UK, BioMOx now includes the study of rare 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: www.biomox.net
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, and contribute to the acute out-of-hours service which runs seven days a week. I undertake regular teaching of medical students as the Richard Doll Senior Fellow to Green Templeton College at Oxford University, as well as educating junior doctors and GPs about all aspects of neurological disease.