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.
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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)