Research Projects

Unravelling the genetics of frontotemporal dementia

Awarded to:
Dr Jean-Marc Gallo

Current award:

King’s College London

1 October 2014 - 30 September 2017

Full project name:

Molecular mechanisms of C9ORF72 repeat expansion toxicity in frontotemporal dementia






Researchers want to get to grips with how a particular faulty gene impacts the biology of the brain in frontotemporal dementia.

In 2012, a faulty version of a gene called C9ORF72 was discovered to be responsible for frontotemporal dementia (FTD) in a large proportion of families with a history of the condition.

However, it remains a mystery how and why this faulty gene could cause so much damage.

Uncovering the role of C9ORF72 in the brain will provide vital clues to the causes of FTD and unlock new approaches to treating the disease.

Why is this important?

Frontotemporal dementia is the second most common cause of dementia in people under 65.

Unlike other forms of dementia, the symptoms often don’t start with memory loss but with a change in personality and behaviour as well as problems with communication.

Around 40% of cases of FTD are thought to be genetic – passed down in families.

This is a cruel twist to what is already an incredibly distressing disease for individuals and their families.

This research will help pave the way to the development of treatments to slow down, or halt, the progression of this disease in the families affected.

What will they do?

To understand how the faulty C9ORF72 gene damages nerve cells, the team will use state-of-the-art stem cell techniques to study the cells in the laboratory.

They will take donated skin cells from people with and without the inherited form of FTD and turn them into nerve cells in the lab.

By comparing how these nerve cells behave, the researchers will learn how this faulty version of C9ORF72 wreaks its harmful effects in the brain.

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Dementia is one of the world’s greatest challenges. It steals lives and leaves millions heartbroken. But we can change the future.