Summary
This project aims to study the gene expression alterations at the neuromuscular junction in amyotrophic lateral sclerosis (ALS) by making use of and developing novel RNA sequencing techniques. The goal is to gain a better understanding of the molecular mechanisms that underlie neuromuscular junction defects in ALS in order to identify potential therapeutic targets.
Description
Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neurodegenerative disease, characterized by degeneration of motor neurons, resulting in paralysis and death due to respiratory failure. ALS is incurable and there is a clear unmet medical need, which is attributable to the incomplete understanding of the molecular pathogenesis of ALS. In order to develop future therapeutic approaches that could block the onset and/or the progression of ALS, we must identify the molecular derailments leading to the pathology. In the proposed project, we will investigate the role of skeletal muscle in ALS pathogenesis and additionally identify potential therapeutic targets in this tissue. Furthermore, the project will resolve an ongoing debate in the field: does skeletal muscle contribute to ALS pathogenesis?
