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Dementia and motor neurone disease: the role of the C9orf72 mutation

Project details

Thomas Moens
UCL Queen Square Institute of Neurology
Research area
Alzheimer’s disease and dementia
Motor neurone disease
Funding type
PhD studentship
Awarded in
September 2013
March 2018

Thomas joined the PhD programme in Clinical Neuroscience at UCL Institute of Neurology in 2013, supported by a Brain Research UK PhD studentship.

He was awarded his PhD in 2018 and has now taken up a prestigious Marie Curie Fellowship at VIB-KU Leuven Center for Brain & Disease Research in Belgium.

The role of the C9orf72 mutation in amyotrophic lateral sclerosis and frontotemporal dementia

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neurone disease, whilst frontotemporal dementia (FTD) is the second most common cause of dementia. In recent years, there has emerged a growing body of evidence that these two diseases are linked, and in 2011 it was revealed that the same genetic mutation is the most common genetic cause of both diseases.

Thomas’ research was focused on this mutation, which occurs in a gene known as C9orf72. He wanted to understand how this mutation causes the damage that leads to the development of ALS and FTD.

He worked as part of a team that demonstrated that the formation of toxic protein molecules are the likely culprit, and has since completed further work assessing how this toxicity occurs.

Not only does this work provide new targets for the development of drugs to treat ALS and FTD patients with the C9orf72 mutation, but it may also provide insight into the mechanisms underlying the sporadic forms of these diseases.

What next for Thomas?

Through our PhD studentships, we aim to nurture the development of promising researchers who we hope will go on to develop long and illustrious careers in brain research. In this way we are investing in the future of brain research, and the next generation of research leaders.

Not only did our funding support the important research that Thomas undertook during his PhD, which led to the publication of six papers, but it has helped him along the path towards a career as an independent researcher.

Following completion of his PhD, Thomas took up post-doctoral research at VIB-KU Leuven Center for Brain & Disease Research in Belgium. He has been awarded a prestigious Marie Curie Fellowship, which will allow him to continue his study of the mechanisms underlying ALS and FTD.

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