I am now half-way through my three-year fellowship, looking at the genetics of MND in Scotland and the clinical features that carriers of genetic mutations develop (‘genotypephenotype correlations’).
People with MND who have signed up to the Scottish MND Register and given a DNA sample (blood or saliva) to the Scottish Regenerative Neurology Tissue Bank are included in this study. An amazing 211 patients have contributed to this work since I started my fellowship in August 2015 – a true testament to the generosity of our MND community in Scotland. Recruitment is on-going; if you would like to help and have not done so already, please register your interest at www.care-mnd.org.uk.
Along with Dr Holly Black at the Institute of Genetics and Molecular Medicine (University of Edinburgh), we have undertaken an exploratory analysis of the genetics of MND in Scotland.
This research has highlighted some important findings; mutations in the C9orf72 and SOD1 genes appear to be the most common MND-related genetic abnormalities in Scotland, affecting both patients with a family history of MND and those without. We have also identified that abnormalities in the TBK1 and NEK1 genes affect people in Scotland – these genes have only recently been found to be linked with MND. The work being undertaken in my fellowship aims to expand on this research, analysing many more genes and clinical symptoms. Results from this preliminary analysis have been published and can be found at www.neurobiologyofaging.org.
Global collaboration and sharing of information are key to making progress in MND research. Scotland has many established research partners, including doctors and scientists at Columbia University, New York, with whom I have worked over the past year. Research groups worldwide meet annually at the International Symposium on ALS/MND and I had the opportunity to present data on the epidemiology of MND in Scotland, highlighting the importance of our patients within the global MND landscape. I also presented an outline of our new Clinical Audit Research and Evaluation for MND (CARE-MND) platform. This platform is helping to deliver the best quality care for patients throughout Scotland but, uniquely, it also allows for the integration of routine clinical care with research, so that patients can contribute seamlessly. We are in an unprecedented climate of MND discovery, and so it is crucially important to optimise on our ability to undertake population-wide research in Scotland and to learn from the people who know most about the disease – the patients.