Offering routine genetic testing for Motor Neurone Disease (MND) could improve knowledge of disease classification and impact clinical care, new research has concluded.
Routine testing may be appropriate for all MND patients – whether or not they have a family history of the disease – and could impact disease sub-classification and clinical care, the findings of the Sheffield Institute for Translational Neuroscience (SITraN) study revealed.
Currently only patients with a family history of MND, dementia, or who experience disease onset at a young age are routinely offered genetic screenings in the UK.
With the development of new therapies targeting specific genetic forms of the disease, researchers on the study – which was funded by the are recommending that all MND patients are offered a screening.
“Our study suggests that all patients with MND should, with careful counselling, be offered genetic testing,” says Professor Dame Pamela Shaw, Director of SITraN and the NIHR Sheffield Biomedical Research Centre.
“We hope that by screening all MND patients for gene mutations that are a known factor in MND, we can further our knowledge on subclassification of the disease, but also ensure that patients have access to clinical trials that are relevant for them personally.”
MND – also known as amyotrophic lateral sclerosis (ALS) – is an adult-onset neurodegenerative disease characterised by progressive injury and cell death of upper and lower motor neurons.
This leads to progressive failure of the neuromuscular system with death, usually from respiratory failure, within 2–5 years of symptoms in most cases.
Currently, there is no cure for MND – which affects 5,000 people in the UK and 450,000 people worldwide – and no effective treatments to halt or reverse the progression of this devastating disease.
Among the 100 patients who took part in the study, researchers found higher than expected genetic changes in the group of patients.
“Our study found that 42 per cent of patients involved in the screening showed variants in known MND-linked genes,” says Professor Janine Kirby, Professor of Neurogenetics at the University of Sheffield.
“This doesn’t mean that 42 per cent of MND cases are familial – but shows that some familial and sporadic cases can share the same genetic cause of disease.
“We found that 21 per cent of patients had a clinically reportable genetic alteration that has been proven to increase the likelihood of developing MND.
“Of these, 93 per cent had no family history of MND and 15 per cent met the inclusion criteria for a current MND gene therapy clinical trial.
“As future studies expand the number of verified genetic causes of MND, we will continue to see if they are also found in cases without a family history.
“This is increasingly important in light of the new personalised medicine treatments in development for MND that target a specific gene mutation to ensure that patients have access to potential treatments that could be beneficial to them.”
Dr Brian Dickie, director of research development at the MND Association, adds: “MND is a complex disease involving a complex mix of genetic and environmental factors.
“This latest research sheds more light on the genetic component and will hopefully lead to greater availability of genetic testing to aid earlier diagnosis and more tailored treatments in the future.
”This will provide an even clearer picture of the UK MND genetic landscape.’’
New company launched to drive forward Parkinson’s research
Charity Parkinson’s UK is to launch a new company dedicated to driving forward research into Parkinson’s disease.
Vivifi Biotech has been created to lead and plan preparations for a new trial into the role of the restorative protein glial cell-derived neurotrophic factor (GDNF) in Parkinson’s.
Launched through the charity’s drug development arm, Parkinson’s Virtual Biotech, up to £800,000 will be invested over the next two years as efforts continue to find a life-changing new treatment for people living with the disease.
Plans for a new trial build on the initial groundbreaking clinical investigations in GDNF, the results of which proved inconclusive but did show some signs that the treatment may have started to regenerate participants’ dopamine-producing brain cells.
“The unwavering passion and determination of the GDNF participant group has ensured that the potential of GDNF, and the role of patients in research, has never been forgotten,” says Paul Jackson Clark, director of engagement at Parkinson’s UK.
“They’ve tirelessly campaigned, fundraised and shared their experience with us, enabling us all to get to this monumental point.
“We now have the chance to see if we can find a life-changing new treatment that people with Parkinson’s desperately need. There are still plenty of obstacles but this announcement gives us the opportunity to move things forward together.”
Parkinson’s UK was the major funder of the initial trial, which investigated whether boosting levels of GDNF could slow, stop or reverse the progression of Parkinson’s.
Tom Phipps was a participant in the GDNF trial.
“My outcome was as positive as I could have wished for, I feel the trial brought me some time and has delayed the progress of my condition,” he says.
“The trial participants have always believed in GDNF’s potential,” said Parkinson’s UK in their announcement.
“So have we and the other organisations involved in the trial.
“Some participants tell us they’re still experiencing the benefits, years on from undergoing this experimental therapy. We’ve been working with them since the end of the trial.
“Together, we want to make sure we’ve explored every option.”
Music group launched to support BAME community
A music group established to support people living with dementia, memory loss and brain injury has received funding to launch an online project for the South Asian and BAME community.
Leicester Musical Memory Box (LMMBox) was founded in July 2018, and since that time has grown from one group in the city to six, providing interactive music sessions for people of all ages and backgrounds, including a group specific to the South Asian community.
The group – which has two staff members who are fluent in Gujarati, Hindi, Punjabi and Urdu – aims to provide the local community with a supportive network and a safe space to explore the unique challenges that a brain injury may bring to individuals, as well as their families and carers.
The new online music project is named ‘Geet Sangeet’ – translated as ‘Songs Sung Together’ – and will incorporate music and cultural references specific to the South Asian community, led by group leader Beena Masand from LMMBox.
Each session will begin with gentle exercises to warm up the body and brain, followed by singing and discussion about various music, songs, and media.
Attendees will also receive their own ‘musical memory box’ in a bag to help increase the interactivity of the sessions.
The project has received funding from the new Local Connections Fund, and is in collaboration with Headway Leicester.
Music has proven benefits for people with memory problems or a brain injury, including enabling people to connect with past experience and enabling freedom of expression, confidence and independence.
Attendance at the groups also helps to improve mood and reduce feelings of social isolation.
“We know we are providing a vital service to our members and receive enquiries regularly,” says Kyle Newman, group leader and co-director of LMMBox.
“In spite of the lockdown, we are thrilled to be able to once again provide a culturally specific group for the South Asian community.
“We also know that the group leader needs to come from that community and have the music and cultural knowledge to be able to engage participants effectively.”
“We are delighted to collaborate with LMMBox and reach out to more people across Leicester who have been affected by brain injury,” adds Mary Goulty, service manager at Headway Leicester.
“There is a clear need for a support service within the BAME community and that’s why we launched our BAME group last year, which is providing a vital lifeline to brain injury survivors we support and their families.”
To contact LMMBox, visit www.leicestermusicalmemorybox.co.uk
For support with brain injury in the Leicester community, visit www.headwayleicester.org.uk.
Art Therapy offers an emotional outlet for those living with a Traumatic Brain Injury (TBI)
Masks not only allow us to hide our true feelings but to also express them without fear of judgement.
Being able to ‘hide’ one’s true self, may be a way, for others, to truly ‘show’ themselves.
For this reason, Chroma therapists began delivering Art Therapy sessions online to those living with a Traumatic Brain Injury (TBI) in an attempt to help them express their emotions in a creative, non-threatening way.
A TBI can have devastating effects upon a person’s mental health, as well as physical, with emotional issues caused by significant, sudden changes in appearance and abilities.
Studies have found Art Therapy to be effective in helping TBI patients with emotional expression, socialisation, emotional adaptation to mental and physical disabilities, and communication in a creative and non-threatening way.1
Self-expression is fundamental in processing the effects of a TBI. Take a look at the image below.
On the left is the base mask. During the process of art therapy, across a number of sessions, the participant talks, reflects and begins to create ideas or metaphors which then get placed onto the base mask. Often this depicts the face he presents to the outside world, in contrast with the dual parts of to his inner personality including a bright peaceful side and a dark, tumultuous side.
Based on the sessions, Chroma therapists are better able to gauge the patient’s feelings, discuss the final piece and help the patient begin to process their emotions.
In effect, art therapy offers a creative gateway to communication and used in this way, tries to enable the participant to externalise their inner thoughts and feelings.
As a therapy, it has been shown to help reduce feelings of stress, promote creativity and imagination as well as increase self-expression, confidence and communication.
Chroma began delivering these sessions as a way to allow clients to reveal thoughts and feelings about themselves which they may find hard to express, or may not even be aware of, and which may be being expressed through more difficult behaviours.
They also create an opportunity for greater communication, allowing therapists to gain a deeper understanding of the client’s thoughts, anxieties and feelings.
Being able to express themselves creatively helps the client reveal their true feelings, which in itself can be cathartic – a relief to release their emotions, in a personal, safe space.
Chroma continues to deliver these sessions online to help reach as many TBI sufferers across the UK as possible in an attempt to help them begin to process their emotions concerning the effects the TBI had upon them, with the outlook to help improve their mental wellbeing which in turn will help promote a positive outlook to life and rehabilitation outcomes.
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