Genotype-Phenotype Characterisation of MND in Scotland

About the project

Recent discoveries in the genetic landscape of MND have resulted in an accelerated research investment exploring aetiology of disease and basis of phenotypic variation.  My research aims to investigate the phenotypic and genetic characteristics of people with MND in Scotland to direct clinical services and interventions and lay the foundations for future genetically targeted drug trials. 

Scotland benefits from a culture of longstanding MND data capture and an integrated healthcare system.  I helped to develop the Clinical Audit Research and Evaluation of MND (CARE-MND) platform, an evolution of the established Scottish MND Register, to integrate this information. 

My PhD summarised the epidemiology and genetic epidemiology, as well as characteristics and survival markers, of people diagnosed with MND in Scotland between 2015-2017.  Current and future work is focussed on variant classification of MND-associated genes, genotype-phenotype correlations, and prognostic modelling.


Previously funded by the Chief Scientist Office for Scotland, MND Scotland and the MND Association


Leighton, D., Newton, J., Colville, S., Bethell, A., Craig, G., Cunningham, L., Flett, M., Fraser, D., Hatrick, J., Lennox, H., Marshall, L., McAleer, D., McEleney, A., Millar, K., Silver, A., Stephenson, L.
Stewart, S., Storey, D., Stott, G., … Pal, S.
Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
2019 Mar 20
Leighton, D. J., Newton, J., Stephenson, L. J., Colville, S., Davenport, R., Gorrie, G., Morrison, I., Swingler, R., Chandran, S., & Pal, S.
Changing epidemiology of motor neurone disease in Scotland.
Journal of Neurology
2019 Feb 25
Black, H. A., Leighton, D. J., Cleary, E. M., Rose, E., Stephenson, L., Colville, S., Ross, D., Warner, J., Porteous, M., Gorrie, G. H., Swingler, R., Goldstein, D., Harms, M. B., Connick, P., Pal, S.
Aitman, T. J., & Chandran, S.
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Neurobiology of Ageing
2016 Dec 21

Primary location


Principal Investigator

Other people involved

Dr Suvankar Pal, Professor Siddharthan Chandran, Professor Mary Porteous

Dr George Gorrie (University of Glasgow)

Dr Matthew Harms, Dr David Goldstein (Columbia University, New York)