Using fruit flies to understand a genetic cause of MND

Mistakes in a gene known as ALS5, or spatacsin, cause a rare form of inherited MND that develops at a much earlier age than most other forms of the disease. Under supervision from Dr Cahir O’Kane, MND Association funded PhD student Alex Patto has been using fruit flies to understand how mistakes in spatacsin cause MND (our grant reference 861-792).

Prior to this research, which is based at the Department of Genetics at the University of Cambridge, nothing was known about how faulty spatacsin leads to motor neurone degeneration. Three and a half year years on, this research has shed light on this important question.

What did they find?

By conducting tests in the fruit flies, Alex has found that the spatacsin protein has a role in cell recycling (also known as autophagy), a process which keeps cells healthy. When the spatacsin protein is faulty it leads to disrupted cell recycling and abnormal levels of another protein called Rab7, which might contribute to MND development.Read More »

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.

Read More »

Looking for MND genes: Project MinE update

Project MinE is an international genetics project that is analysing DNA from people with MND in detail.

For the majority of people with MND, the disease appears ‘sporadically’ for no apparent reason. For a small number of people, approximately 5-10% of those with MND there is an inherited link, in other words the disease runs in their families.

We know a lot about the genes that are damaged in the rare inherited forms of MND. We also know that very subtle genetic factors, together with environmental and lifestyle factors contribute to why the majority of people develop the disease. These subtle genetic factors are very hard to find.

The goal of Project MinE is to find the other genes that cause inherited MND and help us find out more about these subtle genetic risk factors.

mine

Project MinE was born when Dutch entrepreneur Bernard Muller challenged his neurologist to do something with all the DNA samples in his freezer – samples being stored there for future analysis. ‘Why can’t those samples be analysed now?’ was his question. That was two years ago!Read More »

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…!Read More »

Heading in the right direction: Sheffield Support Snood update


Update (February 2017): All sites are now closed and not recruiting for participants.

If you would like to be added to a waiting list for the Sheffield Support Snood, please contact Lise Sproson.


We are funding, together with the NIHR i4i (National Institute for Heath Research invention for innovation) programme, a research team in Sheffield who have developed a new type of neck support for people living with neck muscle weakness as a result of a neurological condition.

Designers, clinicians and engineers from University of Sheffield, Sheffield Hallam University, Devices for Dignity, Sheffield Teaching Hospital, Barnsley Hospital, and the Sheffield MND Research Advisory Group have worked together with people living with MND to develop the Sheffield Support Snood through an iterative design process.

The results from a small pilot study of the snood were presented at the International Symposium on ALS/MND in Brussels last year, where we reported on it.

5 b (3)

Next step – the 100 collars project

In September we attended the Sheffield Support Snood training day, run by Devices for Dignity, Sheffield Teaching Hospitals NHS Foundation Trust, and Dr. Christopher McDermott, a Clinician Scientist at the Sheffield Institute for Translational Neuroscience (SITraN) who is the Chief Investigator for the project .Read More »

Are there differences between FTD alone and FTD-MND?

The last of our FTD awareness week blog posts is focussing on a healthcare project looking into FTD (frontotemporal dementia) and FTD-MND (FTD when combined with MND). The project began last year and is being part-funded by us.

Jennie Adams
Jennie Adams

Professor Julie Snowden and PhD student Jennie Adams at the Cerebral Function Unit in Salford (University of Manchester) are looking into the behavioural and cognitive aspects of FTD and FTD-MND.

They are aiming to work out if there are any differences in thinking or behaviour between people who have MND-FTD and those who have FTD on its own.

For example this could be looking to see if people with FTD-MND tend to show more difficulties with language, but not have many changes relating to behaviour. Or if people with ‘pure’ FTD show more difficulties with appropriate behaviour in public, compared to organisation and planning skills.Read More »

Hunting for clues about the genetic causes of FTD and MND

Yesterday we published an introductory blog on frontotemporal dementia (FTD) and described how it is sometimes found in combination with MND.

Today we are looking at a biomedical project on FTD and MND that we are funding.

The project

Dr Olaf Ansorge and Professor Kevin Talbot of Oxford University are leading a biomedical project aimed at identifying cell changes in the brain tissues of people who had MND, FTD, or developed both conditions (FTD-MND).

The aim of their research project is to identify which nerve cells within the brain are most likely to be affected by faulty proteins known to contribute to both FTD and MND. Knowing which brain cells are affected, and by which proteins, will help explain the genetic differences between the two conditions.Read More »

Withdrawing ventilation support at the request of the patient: the ethical, moral and legal issues

Motor neurone disease (MND) can cause weakness in the chest muscles involved in breathing. This leads to shortness of breath and symptoms including disturbed sleep and headaches. Ventilation support allows a person to breathe more efficiently and can also extend survival.

The MND Association has funded research into respiratory management and ventilation support for people living with MND.

A study looking at withdrawing ventilation support at the request of a patient with MND has recently been published in the journal BMJ Supportive and Palliative Care. It was led by Professor Christina Faull, from LOROS – the Leicestershire and Rutland Hospice – in conjunction with the University Hospital of Leicester, and has been part-funded by the Association.Read More »

Endomicroscopy – lighting the way for a diagnosis

Richard Ribchester 2015At present there is no diagnostic test for MND, and diagnosis is usually determined through clinical observations and by excluding other diseases. Because of this, a definitive diagnosis of MND can take up to several months.

By developing an effective diagnostic test for MND, we will be able to diagnose MND earlier and put in place effective care and support needs sooner. Another benefit to earlier diagnosis would mean that people living with MND can be started on riluzole much earlier.Read More »

Oxidation Resistance 1 – tackling oxidative stress

MND Association-funded researchers, Prof Dame Kay Davies and Dr Peter Oliver, both based at the University of Oxford, have identified the oxidation resistance 1 (OXR1) gene as a neuroprotective factor in MND.

Published in the journal Brain on 9 March 2015, Prof Davies has shown through their recent research in mice that OXR1 may serve a new target for future drug development.

We’re funding Matthew Williamson’s PhD studentship to follow up this exciting research. Find out more about this and the other research projects funded by the Association in our newly updated Research we fund information sheet.Read More »