Press Office


Patients quiz experts on neuromuscular disease


More than 160 patients had an opportunity to hear first-hand about the latest research being carried out into mitochondrial disease and muscular dystrophy at a special event yesterday.

Scientists from Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust, were among the experts sharing the latest developments in a number of areas, including mitochondrial donation, new pharmacological therapies and research into muscle movement and exercise.

The event was the first opportunity for patients to get an update from scientists since the historic vote in Parliament earlier this year, which has paved the way for mitochondrial donation.  This could prevent defective mitochondrial DNA being passed down the maternal line and so give the opportunity for hundreds of families in the UK to have their own healthy children. However, there are limited treatments for patients who are currently affected with mitochondrial disorders – which often affect muscles and other parts of the body that have high energy demands.

Yesterday's event gave these patients, and those with muscular dystrophy, the chance to ask questions directly to experts about practical support to improve their quality of life, such as how to increase physical activity safely and nutritional guidance.

Speaking at the event, which was supported by Muscular Dystrophy UK and the Wellcome Trust, Doug Turnbull, Professor of Neurology and director of the Wellcome Trust Centre for Mitochondrial Research at Newcastle University, said: “Although the recent change in the law relating to mitochondrial donation is clearly welcome news, we are also continuing our extensive research into treatments and cures for those currently affected by this terrible disease. The progress we’ve made so far has, in large part, been as a result of our patients actively getting involved with and supporting our research, so it’s great to see such great interest here today. Events like today give us valuable feedback on our research, so that we can be confident patients’ needs are being met.”  

Susan Warnock, 31, from Cumbernauld, near Glasgow, was diagnosed with mitochondrial disease six years ago. She was among the speakers at the event, giving her personal perspective on mitochondrial disease. Susan said: “I’ve really enjoyed the event today – it has been a great opportunity to bring patients together to ask questions directly to the people doing the research and to be able to talk to experts who are at the very forefront of work in this area. It’s also been reassuring to meet other patients in person, and I hope people have come away from today’s event understanding that they’re not alone in living with their condition.”

Yesterday's patient day involved scientists from the Wellcome Trust Centre for Mitochondrial Research and the John Walton Muscular Dystrophy Research Centre – both of which are partnerships between Newcastle University and the Newcastle upon Tyne Hospitals NHS Foundation Trust. They were joined by researchers from University College London and the MRC Centre for Neuromuscular Diseases, and experts from Muscular Dystrophy UK and the Lily Foundation.

It is being followed by the two-day MRC neuromuscular diseases translational research conference, where researchers from around the country will discuss their latest work into muscle wasting conditions. And over the course of the entire three days, scientists will also be taking part in a sponsored 275 mile cycle ride on a stationary bike to raise money for Muscular Dystrophy UK. One of the patients at yesterday's event, David Freeman (pictured), from Edinburgh, got the marathon ride underway.

Dr Marita Pohlschmidt, Director of Research at Muscular Dystrophy UK said: “Events like this are not only an invaluable opportunity for people with rare muscle-wasting conditions to put their questions to experts, but also to meet each other and to share information and advice. Muscle-wasting conditions cause increasing disability, and can lead to life-threatening health issues. This has been a chance for people to speak with others who are going through the same difficult practical, physical and emotional challenges they face.

“Newcastle is home to world-leading research into these conditions and developments in specialised healthcare that are helping to transform and extend lives. We would like to thank all the scientists who are pushing the pedals this week to help us continue funding this vital work.”

Professor Kate Bushby, Action Research Chair of Neuromuscular Genetics Newcastle University, co-lead of the John Walton Muscular Dystrophy Research Centre, and honorary consultant geneticist at Newcastle Upon Tyne Hospitals NHS Foundation Trust, said: "We are proud that the first patient information day associated with the MRC Neuromuscular Translational Conference is being held in Newcastle. It is so important to have these events, and we are always pleased to see experts from the John Walton Muscular Dystrophy Research Centre and our local patient community engaging with each other. The focus on activity and movement is especially welcome in adult conditions like myotonic dystrophy and FSHD. We look forward to hosting more events like this in the future. "

Professor Hanns Lochmuller, co-lead at the John Walton Research Centre, and honorary consultant in neuromuscular genetics at Newcastle Upon Tyne Hospitals NHS Foundation Trust, added: “Events like this enable us to combine the expertise of world-leading scientists in muscle disease with the insight from patients and their relatives to address the very real problems they face in trying to manage their conditions. Their input is valuable in shaping and influencing our research, giving our researchers and scientists the motivation to continue their work in this important area.”   

Professor Mike Hanna, Director of the MRC Centre for Neuromuscular Diseases and UCL Institute of Neurology, Professor Mary Reilly, Co-Director of the MRC Centre for Neuromuscular Diseases and UCL Institute of Neurology and Dr Grainne Gorman, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, added:  “We are delighted that this patient day event is being held alongside the MRC Centre for Neuromuscular Diseases conference. It is an important opportunity for patients and scientists to link up and discuss progress in patient management including exercise for patients with muscle wasting diseases."

Pictured: David Freeman and Susan Warnock

published on: 18 March 2015