Welcome to the International Symposium on ALS/MND in Dublin

Today marks the beginning of the next year in MND research around the world, or at least it certainly feels like that! It is the first day of the three day, international MND research conference that the MND Association of England, Wales and Northern Ireland is immensely proud to organise. Continue reading

New genetic discoveries tell us more about what causes MND – Part 2

Two sets of MND genetic results were published yesterday. One of these results was about the importance of a new gene called NEK1. The second highlighted the role of gene C21orf2 in MND – we wrote an article about this yesterday. Both sets of results were published in the prestigious journal Nature Genetics.

What are the results and what do they tell us?

Researchers found that variations in the NEK1 gene contribute to why people develop the rare, inherited form of MND. Variations in the NEK1 gene were also found to be one of the many factors that tip the balance towards why people with no family history develop MND.

NEK1 has many jobs within motor neurones including helping keeping their shape and keeping the transport system open. Future research will tell us how we can use this new finding to target drugs to stop MND. Continue reading

New genetic discoveries tell us more about what causes MND – Part 1

Today some exciting news about the genetics of MND was published in the scientific journal Nature Genetics. The results come in two research papers published in the same issue of the journal.

This blog post discusses the results of the first of these papers for which King’s College London based Professor Ammar Al-Chalabi was one of the leading researchers. A post on the second paper will follow later.

Here we’ve given an overview of what the researchers have found, what it means for people with MND and how the analysis was conducted. You can read a more detailed explanation of the research results from the King’s press release. Continue reading

30 chapters of MND research

During MND Awareness Month (1-30 June), we will be publishing a new post each day. Our ‘Project a Day’ series will celebrate the whole range of areas in which the MND Association funds research.

Thanks to the generous donations of our supporters, we currently fund over 80 research projects, across five themes:

  • Causes: These projects aim to understand what causes the motor neurones to die. This is essential to allow the development of treatments.
  • Models of MND: One way in which to understand the function of a gene and how this goes wrong in disease is to use a model. These projects aim to develop new and better models of MND to understand the causes of MND.
  • Healthcare: These projects aim to increase the quality of life of people living with MND, as well as improving care. These projects have a direct impact on people living with MND here and now.
  • Markers of disease progression: There is currently no diagnostic test for MND and no specific ‘biomarker’ to monitor the disease. These projects aim to find a marker of disease progression to speed up diagnosis, prognosis and disease monitoring of MND.
  • Developing treatments: These projects aim to test the effectiveness of potential treatments, from laboratory stage to the clinical trial environment.

Continue reading

Choices around invasive ventilation

Mechanical ventilation for people with motor neurone disease (MND) is a sensitive and little discussed topic. Yesterday’s respiratory management session of the International Symposium on ALS/ MND began with several interesting and thought provoking presentations on the subject. Pia Dryer from Aarhus University Hospital in Denmark presented the results of a review of their respiratory service over 17 years, including a discussion of invasive ventilation. Dr Mike Davies is a respiratory consultant at the Papworth Hospital in Cambridge in the UK, where he and his colleagues run a weaning service supporting people to come off invasive ventilation.

Choosing ventilation, or not

Summary of respiratory choices in Denmark

Summary of respiratory choices of people with MND in Denmark

Over 400 people with MND had been treated at the Home Mechanical Ventilation service since its inception in 1998, Pia Dryer explained at the beginning of her talk. During the discussions in clinic people had the choice about the options available for managing their breathing symptoms, some chose no ventilation, others non-invasive ventilation (NIV). From NIV some then progressed to invasive ventilation or tracheostomy, and finally some chose to go straight to invasive ventilation. People with MND had the choice of all of these options, 90 of them chose either NIV and then invasive ventilation or invasive ventilation first without NIV. The talk was really brought to life by showing clips of Birger Bergman Jeppesens the star of a number of films on YouTube. He was the first patient to ask for invasive ventilation at the Aarhus clinic. Dr Dreyer went on to talk about the legal and ethical aspects of withdrawing ventilation from people with MND at the end of life, a topic that was discussed in more depth later in the session. Continue reading

Our wheelchair project – helping people with MND around the world

Karen Pearce, the MND Association’s Director of Care, blogs about presenting the Association’s wheelchair project at the Allied Professionals Forum, which happened prior to the International Symposium on ALS/MND.

Karen PearceAt the Allied Professionals Forum I had the opportunity to present our wheelchair project, particularly looking at anticipating future needs and the powered neuro wheelchair. The presentation seemed to go well, however there were no questions at the end. In my mind this could mean a few things, either what I had said wasn’t interesting, or it wasn’t relevant or maybe I had covered everything people wanted to know. This felt unlikely to me.

 

Thankfully after the presentation a few people approached me, a couple to ask for our evidence so they could influence the people who provided powered wheelchairs in their country. Another person asked about how a feature of the powered neuro wheelchair could possibly be used if the wheelchair was tilted back. Fortunately she uses wheelchairs from one of the manufacturers we work with. Following my talk she is going to ask them for a demonstration model for her to try – a fantastic example of sharing work that will now hopefully support across many countries. Continue reading

Season of mists and mellow fruitfulness…..and prizes….

The fantastic news that Patrick Joyce and his co-inventors have won the 2015 Hackaday Prize for their ‘Eyedrivomatic’ invention is one of a number of research prizes announced this autumn.

Martin Turner award

Prof Martin Turner receiving his award from Prof Jane Dacre, RCP President

At the beginning of November Prof Martin Turner was presented with the Graham Bull Prize for Clinical Science by the Royal College of Physicians (RCP). The Prize is awarded to a member of the RCP under the age of 45 who has made a major contribution to clinical science.

The winner of the Graham Bull Prize is also invited to deliver the prestigious Goulstonian Lecture, an annual lecture given by a young RCP member that dates back to 1635 and the list of previous speakers reads as a ‘Who’s Who’ of the history of British Medicine!

Those of you who know Martin, in particular the many participants who volunteer for his BioMOx research programme will be pleased to see his new title: he was awarded the title of Professor by the University of Oxford in July this year. Aren’t Professors getting younger looking these days…! Continue reading

Palliative Care Research – new funding available

Today an exciting announcement was made about three organisations working together to increase our knowledge on the best way to provide palliative and end of life care. The MND Association and the Chief Scientists Office in Scotland (CSO) will be working with Marie Curie on a new research call.

Marie Curie Logo

In addition to a £1million funding pot from Marie Curie, the CSO will contribute £225,000 of funding and MND Association will contribute up to £200,000. Scientists, clinicians or healthcare workers are invited to submit their outline applications by 14 January 2016.

Acting on what you told us

The areas that we’d like to fund are based on a project that was completed in January 2015, known as the ‘Palliative and End of Life Care Priority Setting Partnership’, shortened to ‘PeolcPSP’. At the core of this 18 month project were responses to an online survey, where many people shared their questions or experiences about the end of life. We were pleased that many people affected by MND took part.

From those survey responses, we worked out that there were a massive 83 topics that would be suitable for a research study (and where no conclusive studies had already been conducted). All of these are important topics to investigate, so we’re hoping that researchers with an interest in working in any of these topics will think about submitting an application for funding.Palliative-care-2

So what kind of topics are included?

The topics for the call are the list of 83 questions from this earlier palliative care research study (the PeolcPSP study mentioned above). It is too long a list to include in this post, but the overarching themes include how (best to):

  • communicate topics on palliative and end of life care
  • manage symptoms and medications
  • provide support for carers and families
  • provide support in bereavement
  • provide support for staff (and staff training)
  • co-ordinate care services
  • provide access to services
  • decide where the care should be and what type of care

Where can I find out more?

A press release and more information on how to apply for this funding is available on the Marie Curie website.

The Palliative and end of life care Priority Setting Partnership final report is available online. There’s also a video about the project explaining how it happened and why it is important.

How MND research happens: Manchester Science Festival

On Tuesday, we posted news of the two MND Awareness engagement events taking place in Manchester during the Manchester Science Festival (on 25 and 31 October). Both activities have been developed to try and translate to a wide audience the cycle scientific investigation goes through. Here in a second guest blog for us Dr Emma Hodson-Tole explains more.

The search for providing effective treatments and provision of support for MND is a challenge a wide network of scientists from many different disciplines are working to solve.  This requires development of new technologies and new approaches to enable study of different aspects of the neuromuscular system. These help provide a new understanding of how the neuromuscular system works, and changes which occur due to diseases such as MND.

To do this funding is required to provide laboratory space, cover costs of equipment and materials and enable researchers to have time to focus on their chosen programme of work.  Funding can come from many sources, for example from government research agencies such as the Medical Research Council (MRC) or medical research charities. For the MND Association the money spent on research is raised by donations. The donations come from members of the general public and the amazing range of fundraising activities they take part in.

It takes dedication for MND research to happen

So what are the motivations for all these activities?  Both the research and the fundraising activities require large amounts of dedication, determination and drive.  The source of this motivation is likely very different for each person in this network.  From the people I have had a chance to meet as part of my work related to MND, it seems that there is often a common theme.  That theme is the stories of the people who have been touched by MND, either through being diagnosed themselves or through supporting a family member or friend with the disease.  It is these individual stories which bring us full circle, to the challenges which scientists must work towards solving.

Inspiring the next generation of scientists

We hope the engagement activities planned for the science festival will help raise awareness of MND and ongoing research based in Manchester and other parts of the UK, such as the Patani Lab.  Spreading awareness within this setting could, we hope, also help inspire the next generation of scientists who are motivated to try and meet the challenges MND currently faces us with.

If you are in the Manchester area please do come by and see us, equally don’t forget to encourage any family or friends in the region to come and find out what it is all about!

You can find out more about the events described here and those of the wider Manchester Science Festival at: http://www.manchestersciencefestival.com/ScienceExtravaganzaPoster

Movement Making: 10.30am – 5pm Sunday 25 October, The Museum of Science & Industry, Manchester, M3 4FP

Action Potential: 11:45am, 2pm and 3pm Saturday 31 October, The John Dalton Building, Manchester Metropolitan University, M1 5GD (Being held as part of MMU Science Extravaganza)

Dr. Emma Hodson-Tole is a member of the Cognitive Motor Function research group at Manchester Metropolitan University. The activities described have been developed in collaboration with Dr. Rickie Patani (UCL), Belinda Cupid (MND Association), Devin Louttit and Thomas Valentine (Manchester Metropolitan University), Combination Dance, Dance Consulting and have been supported by The Wellcome Trust, the MND Association and MMUEngage.

Those of you on Twitter can follow activities related to the Manchester Science Festival using #msf15 and those specific to our activities using #mndmove