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Understanding pathomechanisms of ALS

Substantial heterogeneity exists in the clinical presentation of MND with disease progression varying from months to decades and variable non-motor symptoms including cognitive and behavioural dysfunction in as many as 50% of patients. Due to this substantial clinical heterogeneity patients face prognostic uncertainty and stratification for clinical trials is difficult.

The aim is to implement cutting-edge genetic, transcriptomic and proteomic approaches to probe pathogenic variations in individuals with MND using post-mortem brain tissue. Using these techniques, we have been able to identify (i) cell-type specific and (ii) brain region-specific differences in key pathways that may account for regional susceptibilities to the disease process in individuals with MND. These findings, combined with access to linked clinical records will hopefully allow us to continue to explore clinico-pathological correlations with the aim of identifying therapeutic targets and developing biomarkers necessary for clinical trials in this field.

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