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Breakthrough in understanding MND

The Trinity College Dublin research has been hailed as being “extremely valuable” with “enormous” implications



An “extremely valuable” breakthrough has been made in understanding motor neurone disease (MND).

A research team from Trinity College Dublin has found that MND has four distinct patterns of changes in electrical signals that can be identified using EEG (electroencephalography).

The breakthrough has been hailed as being of huge value in identifying patients for clinical trials and will assist in finding new treatments for the neurodegenerative disease.

While trials of new drugs are being undertaken, MND is known to be very heterogeneous with different patterns of disability and life expectancy. 

Predicting in advance the pattern of disability and life expectancy is one of the major challenges in designing modern clinical trials, said the team. 

The electrical signal analysis research developed within Trinity College has discovered different patterns of brain network disruption reflect the underlying disease process. 

The Trinity researchers have now shown that these patterns of brain network disruptions in MND cluster into four distinct subtypes that are predictive of how the disease progresses. 

The team’s findings move the Trinity researchers one step closer to building better and more effective treatments for different sub-categories of the disease.

The work was performed by Stefan Dukic, a PhD student within the academic unit of neurology at Trinity, under the supervision of Dr Bahman Nasseroleslami, Fr Tony Coote assistant professor in neuroelectric signal analysis.Dr Nasseroleslami said: “Understanding how brain networking is disrupted in MND has been the focus of our research for the past ten years. 

“This work show that we are on the right track, and that the technologies we have developed to capture electrical activity in the brain can identify important differences between different patient groups.”

Professor Orla Hardiman, professor of neurology and regarded as a world leader in MND research, said: “This is a very important and exciting body of work. 

“A major barrier to providing the right drug for the right patient in MND is the heterogeneity of the disease. 

“This breakthrough research has shown that it is possible to use patterns of brain network dysfunction to identify subgroups of patients that cannot be distinguished by clinical examination.

“The implications of this work are enormous, as we will have new and reliable ways segregate patients based on what is really happening within the nervous system in MND.”


New AI model helps discover causes of MND

Using the RefMap tool, the number of known risk genes for MND has risen from around 15 to 690



A new machine learning model has been developed for the discovery of genetic risk factors in diseases such as Motor Neurone Disease (MND) using artificial intelligence (AI).

The tool, named RefMap, has already been used by the research team to discover 690 risk genes for MND, the vast majority of which are new discoveries.

One of the genes highlighted as a new MND gene, called KANK1, has been shown by the team to produce neurotoxicity in human neurons very similar to that observed in the brains of patients. 

Although at an early stage, this discovery has been hailed as potentially a new target for the design of new drugs. It could also pave the way for new targeted therapeutics and genetic testing for MND.

Researchers from the University of Sheffield and the Stanford University School of Medicine have led the research. 

“This new tool will help us to understand and profile the genetic basis of MND,” said Dr Johnathan Cooper-Knock, from the University of Sheffield’s Neuroscience Institute.

“Using this model we have already seen a dramatic increase in the number of risk genes for MND, from approximately 15 to 690.

“Each new risk gene discovered is a potential target for the development of new treatments for MND and could also pave the way for genetic testing for families to work out their risk of disease.”

The 690 genes identified by RefMap led to a five-fold increase in discovered heritability, a measure which describes how much of the disease is due to a variation in genetic factors.

“RefMap identifies risk genes by integrating genetic and epigenetic data. It is a generic tool and we are applying it to more diseases in the lab,” Dr Sai Zhang, instructor of genetics at Stanford University School of Medicine said.

Dr Michael Snyder, professor and chair of the department of genetics at the  Stanford School of Medicine and also the corresponding author of this work, added: “By doing machine learning for genome analysis, we are discovering more hidden genes for human complex diseases such as MND, which will eventually power personalised treatment and intervention.”

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Study to explore lived experience of MND

Participants can diarise their feelings and experiences to help effect future change in support and resources



A new study will explore coping and resilience among people living with motor neurone disease (MND), with the aim of helping to improve the resources and support available to them. 

The MND Diary Project will recruit people living with the life-shortening illness – which affects one in 300 people in the UK – in a bid to understand and learn from their experiences and the challenges presented by their diagnosis. 

By collating these shared experiences, the project – from the University of Stirling – aims to enhance future care provision for those with the disease.

“A diagnosis of motor neurone disease can affect people’s lives in many ways,” says Nicola Glennie, a PhD researcher with the nursing, midwifery and allied health professions research unit, in Stirling’s Faculty of Health Sciences and Sport.

“Our project will explore people’s experiences of coping, or not coping, with all the effects that a diagnosis of MND has within their lives, both at home and at work. 

“We’re investigating more than just the physical symptoms of the disease and want to understand how people deal with these challenges, what helps and what does not help. We are exploring how this may change over a period of three months.

“How people cope with challenges can be a very individual thing and what works for one person may not work for someone else. 

“By listening to people’s individual experiences, we’re hoping to build up a picture of the similarities and differences in the ways people cope with MND in their lives.

“Our aim is to use these results to help inform the future healthcare for people living with MND.”

MND causes messages from the motor neurones to gradually stop reaching the muscles – leading them to weaken, stiffen and waste. The illness can affect how people walk, talk, eat, drink and breathe, and some experience changes to their thinking and behaviour. 

However, the disease can impact everyone differently – not all symptoms will affect everyone, or in the same order, or at the same speed.

Much-loved sporting legends Rob Burrow, Stephen Darby and Doddie Weir have increased awareness around MND in recent years, having been diagnosed with the illness themselves.

Recruitment for the new study is being supported by several charities, and anyone who is living with MND, based in the UK and aged over 18 who would like to take part in the project can get in touch with the research team.

Participants would be interviewed twice – three months apart – and are encouraged to keep diaries between the interviews, reflecting on events or challenges faced. The diaries can be kept in any format – written, filmed, or photographed – and creativity is welcome.

When the project concludes, participants will have the opportunity to take part in an event – alongside others living with MND, healthcare professionals, carers, and other stakeholders – where the collated stories are presented and discussed, with a focus on future healthcare.

Ms Glennie’s PhD is funded through an Economic and Social Research Council (ESRC) studentship award from the Scottish Graduate School of Social Sciences. The ESRC is part of UK Research and Innovation.

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Extra Mile Challenge more than doubles fundraising target

The 101-mile run in 24 hours to raise money for MND is Kevin Sinfield’s ‘toughest challenge yet’



Rugby league legend and fundraising hero Kevin Sinfield has embarked on his Extra Mile Challenge to support people living with MND, and has already more than doubled his sponsorship target. 

After raising over £2.7million with his 7 in 7 Challenge – which saw Kevin completing seven marathons in as many days – to raise funds for the MND community in December 2020, he is now taking on his next ultra challenge. 

The challenge will see him attempt to run from the home of Leicester Tigers – the Premiership club where Kevin recently became part of the coaching staff – to Leeds Rhinos’ Headingley Stadium in just 24 hours. 

The hugely ambitious feat, inspired by Kevin’s friend and former Leeds team mate Rob Burrow, was planned to cover 100 miles – but the actual route totals 101 miles, with the extra mile giving the challenge its name, and the sentiment being he will always go the extra mile for his friend, who was diagnosed with MND in 2019. 

Kevin set off on his challenge this morning, with a target of raising £100,000 – already his total stands at more than total that amount, with more donations being received continually. 

Donations will be split equally between the Leeds Hospitals Charity appeal to build the Rob Burrow Centre for MND, supporting people living with MND and their families, and the MND Association, which funds multi-disciplinary care delivered at the centre and others across the country, as well as research into potential treatments for the disease.

“Undoubtedly, this will be the toughest challenge I have ever attempted, but I know it will mean so much to so many people if we meet our fundraising target,” said Kevin. 

“I am sure there will be tough times as we pound the streets during the day and night, in cold November temperatures, but knowing the good we can achieve together will be a huge motivation for all involved.” 

While COVID-19 restrictions meant crowds could not gather to support Kevin as he completed his 7 in 7 Challenge in December last year, many people are expected to watch him en route to Leeds today and overnight. 

His timetable and route have been made available for anyone who wishes to show their support in person. 

To sponsor Kevin in his Extra Mile Challenge, visit here

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