Sheffield Institute for
Translational Neuroscience


Innovative gene therapy programme paves the way for new treatments for neurodegenerative diseases

An innovative gene therapy programme which could pave the way for novel treatments for neurodegenerative diseases, has been launched at the University of Sheffield in collaboration with the Cell and Gene Therapy Catapult. 

The pioneering research has been awarded £513,141 from LifeArc and the Motor Neurone Disease Association to test the feasibility and efficiency of an ambitious gene therapy programme to treat motor neurone disease (MND) and frontotemporal dementia (FTD) patients with underlying mutations in a causative gene known as C9orf72.

If successful, this programme could lead ground breaking research into future clinical trials for one of the most common forms of these incurable neurodegenerative diseases within the next few years. 

The research from the University of Sheffield’s Institute for Translational Neuroscience (SITraN) is led by Dr Guillaume Hautbergue, Head of the RNA Biology Laboratory, in collaboration with Professor Mimoun Azzouz and Professor Dame Pamela Shaw.

"No one has yet attempted to prevent these repeated sequences of RNA from leaving the cell’s nucleus and it opens up new areas of investigation for gene therapy. It is an exciting time for biomedical research and the development of novel treatments for incurable diseases such as MND,” said Dr Guillaume Hautbergue. 

In an early stage study, published in Nature Communications, Dr Hautbergue and his research team were able to pinpoint why the repeated RNA sequences are able to leave the cell’s nucleus to cause cell death. 

The team identified a particular protein called SRSF1 which binds to the pathological repeated RNA molecules and transports them out of the cell centre, effectively overriding the gatekeeping machinery within the nucleus by opening a back door. The researchers have further shown that by reducing the SRSF1 protein or altering its makeup so that it is unable to interact with the cell’s export machinery, it is possible to reduce the amount of rogue RNA molecules escaping into the cell’s cytoplasm.

"This is a completely new approach to tackling the most common type of motor neurone disease"

Dr Guillaume Hautbergue

This new research, funded by LifeArc and the MND Association, will be conducted in collaboration with the Cell and Gene Therapy Catapult, an independent centre of excellence to advance the growth of the UK cell and gene therapy industry. The Cell and Gene Therapy Catapult will provide a detailed non-clinical safety strategy as well as regulatory advice to guide the team at the University of Sheffield through interactions with the Medicines and Health Regulatory Agency for the potential commercialisation of an advanced therapy medicinal product.

Matthew Durdy, Chief Executive Officer, Cell and Gene Therapy Catapult commented: “The progress of this scientific breakthrough from the University of Sheffield and the support for this programme by leading investors and charities such as LifeArc and the MND Association, is testament to the UK research excellence and favourable ecosystem for cell and gene therapies. We welcome the opportunity to be part of this programme and look forward to working with the University of Sheffield to help advance their innovative gene therapy technology into the clinics.”

Dr Brian Dickie, Director of Research Development, MND Association said: “We are delighted to be joining with LifeArc in supporting this innovative research programme at one of the world’s leading centres for MND research. 

“Gene therapy for neurodegenerative diseases, such as MND, has had its ups and downs over the past two decades, but the field is now enjoying a renaissance. There is a clear route to clinical trials if the outcomes of this new study are positive.” 

Dr Melanie Lee CBE, Chief Executive Officer of LifeArc, a self-funded medical research charity said: “Funding this innovative and promising research reflects LifeArc’s focus on working with partners to advance pioneering medical research into life-changing treatments and diagnostics for patients. 

“This gene therapy approach, focused on preventing motor neurone toxicity, is the latest in a series of initiatives we are proud to be part of to drive research into practical treatments for this fatal and brutal condition.”

Earlier this year the University of Sheffield launched the Gene Therapy Innovation and Manufacturing Centre (GTIMC), which is one of three pioneering hubs in a new £18 million network funded by LifeArc and the Medical Research Council (MRC), with support from the Biotechnology and Biological Sciences Research Council (BBSRC).

Through revolutionary research like this new programme the centre is set to advance scientific discoveries into promising treatment options for millions of patients with life-threatening diseases.

To view the Nature paper please visit: