We are pleased to announce that a Lister Institute research prize fellow Professor Sherif El-Khamisy has led a paper that was recently published in the prestigious Nature Neuroscience.

The article, entitled C9orf72 expansion disrupts ATM-mediated chromosomal break repair, discusses the results of cutting edge research into ATM-mediated DNA repair, which can be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.

The most common genetic causes of ALS and frontotemporal dementia are repeat expansions of hexanucleotides, but little is known about how the mechanisms by which such expansions cause neurodegeneration.

This new research, which forms part of Professor El-Khamisy’s Lister-funded fellowship, uncovered two overlapping pathways by which C9orf72 repeat expansions can lead to genetic instability.

You can find out more about this valuable work at the Nature Neuroscience paper.