Jakub Scaber

My research aims to understand the biological processes that give rise to motor neuron disease and the related condition of frontotemporal dementia at the cellular and molecular level, specifically using advances in high-throughput sequencing technologies and computational biology to address these questions. I am particularly interested in the development of tools that will allow us to understand why certain cell types are affected by these conditions, whereas others are relatively spared.

I use induced pluripotent stem cell-derived neurons to understand how certain pathogenic genetic variants (C9orf72, TDP-43) can predispose certain cell types to the development of motor neuron disease, and am working to better understand the utility of this early neuronal model in the study of an adult neurodegenerative disease. I complement my cellular work with the molecular analysis of post-mortem samples using sequencing and other unbiased molecular techniques, and believe that a synergism between these two approaches can yield important insights into the pathophysiology of motor neuron disease.