Edbauer Lab

Research focus

ERC Advanced Grant · 2024

Targeting rogue DNA repair and genomic instability as novel toxicity mechanisms in C9orf72 ALS/FTD

Repeat expansions are a major cause of neurodegenerative diseases, but causal therapies are not available. A (G4C2)n repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Europe. Despite extensive research, the mechanisms linking these expansions to selective neurodegeneration remain poorly understood. Our project, epiC9repair, explores the novel hypothesis that genomic instability at the C9orf72 locus, driven by aberrant DNA repair and repeat-induced chromatin changes, is a critical factor in ALS/FTD pathogenesis. This project builds on our recent observation that the C9orf72 repeat is also a hotspot of DNA…

From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.