Understanding the genetic underpinnings of frontotemporal dementia

Researching

Causes
Risk

Frontotemporal dementia (FTD) is a rare form of the condition that tends to affect people earlier than Alzheimer’s disease and usually occurs in people under the age of 65. FTD can lead to a range of challenging symptoms including personality and behaviour changes, lack of empathy, and communication problems. This makes it a very distressing condition not only for the person affected but their carers, friends and relatives.

Since the discovery of C9orf72 in 2011, researchers have been continually trying to understand how this gene causes FTD. A faulty version of the C9orf72 gene is thought to be responsible for roughly 8% of all cases of each disease in the UK.

Understanding the precise molecular effects of this mutation and how they lead to damage to the brain, is critical for the development of treatments to slow or stop the progression of FTD.

Prof Mimoun Azzouz at the University of Sheffield will Prof Azzouz will seek to extend our knowledge of how DNA instability is involved in frontotemporal dementia caused by the C9orf72 mutation. Although DNA damage has previously been linked to neurodegenerative diseases, the mechanisms and the causal relationship between DNA stability, gene mutations and damage to the brain are poorly understood.

Understanding the causes of damage to the brain is essential for developing treatments that could benefit people’s lives. If DNA damage is found to play a role in the development of FTD then researchers can turn their attention to combating these processes.

Prof Azzouz is a leading expert in developing gene therapies and this is pioneering research into how we could use safely introduce genes that could repair DNA damage in dementia.

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Awarded to
Prof Mimoun Azzouz

Institution
University of Sheffield

Current Award
£244,661.12

Dates
1 October 2018 - 30 September 2021

Full project name
Gene-based therapeutics for frontotemporal dementia