Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are clinically distinct neurodegenerative diseases. But the discovery that they share a common cause – an expansion of a six-letter DNA sequence within the C9orf72 gene - is helping to revolutionize our understanding of the diseases.

Scientists are studying the biological impact of the faulty version of the C9orf72 gene to work out the mechanisms that lead to FTD and ALS. They theorise that the resulting protein may not function properly and/or be toxic to neurons.

The Isaacs Lab is investigating the underlying molecular mechanisms behind C9orf72-related FTD and ALS using a variety of experimental techniques and model systems. The team are also developing high-throughput screening approaches to identify genes and small molecules that modulate C9orf72 and other FTD/ALS genes. The ultimate goal is to develop innovative treatment strategies – such as novel gene therapies.