A Summary of the news from the 23rd International symposium on ALS/MND

Each year we proudly organise the International Symposium on ALS/MND, and this year was a record breaker! The symposium was held in Chicago where over 900 clinicians, scientists and healthcare professionals attended the three-day event. With 86 international speakers and over 300 posters we managed to write about it all in just over 5,000 words in our daily articles on this blog.

Word cloud from our symposium reporting 2012. Created from wordle.net
Word cloud from our symposium reporting 2012. Created from wordle.net

Here’s a brief guide about what we wrote about along with links for the full articles:

Nature, nurture genetics and / or chance – what causes MND? Trying to understand what the different underlying factors are towards developing MND has always been a goal for ALS research. MND Association funded researcher and clinician Professor Ammar Al-Chalabi from King’s College London, gave a talk on this topic at the opening session.

Recognising and supporting the role of informal carers The symposium session ‘Carer and Family Support’ provided a platform to better understand the role that informal carers play in the lives of people with MND and discussed ways that we can improve support to carers.

A prize-wining story worth repeating Many congratulations to Rosa Rademakers from Mayo Clinic Florida USA, winner of this year’s Paulo Gontijo Young Investigator award. She won the award for her work on co-discovering the gene defect in C9orf72.

Mastering Pac-man Brian explains rubbish and recycling in relation to neurones after Prof Anne Simondsen’s talk where she described the ways in which neurones deal with their cellular rubbish.

The clinical trials session An update on the Np001 clinical trial, as well as the results from the NeuralStem safety trial.

Reflections on the poster session The two sessions felt quite different (‘a game of two halves’ is the phrase that comes into my head). At the first, there were lots of people there and lots of discussion. At the second, it was quieter, and more in depth, earnest conversations went on.

Vive la difference It could be easy to assume that one motor neurone is pretty much like another, but a series of presentations on Thursday clearly showed that we need to be a little more sophisticated in our thinking.

Reading the stars – why are ‘astrocytes’ toxic? A session uncovering the clues behind these support cells, and finding out as to why they are toxic to motor neurones.

Storify From the very beginning to the very end. From publishing the abstract book online to photos of presenters and their posters. See  the story of the symposium unfold with our storify.

The 24th International Symposium on ALS/MND will be held in Milan, Italy in December 2013.

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp

Reading the stars – why are ‘astrocytes’ toxic?

On the last day of the 23rd International Symposium on ALS/MND in Chicago last week there was an excellent session on ‘the role of non-neuronal cells’ – it was an exciting session – below is a flavour of some of the topics discussed.

As its name suggests, motor neurone disease causes the degeneration of motor neurones – the long nerve cells that carry messages from the brain to the muscles via the spinal cord. But motor neurones don’t exist in isolation. Particularly in the last five years or so we have learnt a lot about the contribution of glia to the development of MND. In health, the different cell types that are collectively known as glia (eg astrocytes, microglia and oligodendrocytes) protect and support motor neurones. We know that this changes in MND. It’s an exciting and fast moving area of MND research, where there is lots still to find out. So it was a treat to have a session of the Symposium dedicated to the discussion of the latest results.

It opened with a great overview of what we know so far about the role of astrocytes in MND from Serge Przedborski. (Astrocytes are called astrocytes due to their star shape when seen down the microscope). Leading on from the studies showing that the medium (fluid) that astrocytes grow in can damage healthy motor neurones, he set out to find out whether astrocytes (and the chemicals that they emit) are toxic or whether there is a lack of benefit. (Bearing in mind glia are sometimes called ‘support’ cells – this comment about the lack of benefit is pertinent).

 Using a clever assay, where it is pulled through a filter by spinning it, he showed that the astrocyte medium is toxic. So the next question was, what is it in the medium that makes it toxic? He and members of his lab looked at many possible components to check for their toxicity to motor neurones. The studies took over two years and were all negative “it’s too painful to list them all” he commented. “I had to change approach as I was risking the health of members of my lab!”

As he was describing the new approach I was reminded of the guessing game ‘animal, vegetable or mineral”. Is it a protein? was his first question, then the next was ‘is there an overall positive or negative charge to the protein?’ (some of the protein building blocks – amino acids – have a positive or negative charge, so the use of charge is a common way to separate them) and finally ‘how much does this protein weigh?’. The answers to these questions provided the first sort through before a second approach narrowed the search for the ‘toxic protein’ in astrocytes down to a choice of just nine possibilities. After looking at all nine in more detail, he found that a receptor on the surface of the astrocyte known as DR6 was responsible for its toxicity.

Dr Dan Blackburn from the Sheffield Institute of Translational Research, UK, described another approach to uncovering clues about why astrocytes are toxic – using an approach that looks at which proteins are made at a particular time called ‘gene expression’ profiling.

 Although the genes in each cell are there all the time, they are not read all at once. (In the same way that you won’t try and make every single dish in your recipe book simultaneously). So looking at which genes are read (known as gene expression) over the course of the disease leaves a detective trail to find out what caused the motor neurones to die.

Following on from earlier work in their lab, Dr Blackburn presented the trail of evidence from when a mouse model of MND first begins to show symptoms, and from a later time point, when the disease is far more advanced. He pointed the finger at abnormalities in cholesterol transport.

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp 

Vive la difference!

It could be easy to assume that one motor neurone is pretty much like another, but a series of presentations on Thursday clearly showed that we need to be a little more sophisticated in our thinking.

Dr Hynek Wichterle (Columbia University) discussed how in the developing embryo, there are distinct regional subtypes of motor neurones in the spinal cord. For example, the motor neurones at the bottom of the spine can be easily distinguished from those at the top of the spine by the pattern of genes that are switched on and off – in a nutshell, different motor neurones have their own regional ‘postcode’.

Dr Wichterle went on to show that you can generate motor neurones with specific postcodes  in the lab, from embryonic stem cells . Having motor neurones  that  hopefully reflect different aspects of MND will allow researchers to better understand the subtleties of motor neurone function and develop more relevant treatment approaches.

It’s well known that some motor neurones are particularly resistant to the disease, such as the so called ‘oculomotor neurones’ that control eye movements. By looking at  the pattern of genes  being switched on and off in early mouse embryonic development, Dr Wichterle was able to induce the same pattern in mouse stem cells to create what look very much like oculomotor neurones in the dish. There is some further work to be done to check that they are indeed what he thinks they are, but they could be a very important tool in helping to understand why some motor neurones are tougher than others.

Continuing the theme, Dr Georg Haase  (Marseille) introduced an elegant way of separating different populations of motor neurones from mouse spinal cord. He focused on two subtypes of motor neurone – those that connect to the limb muscles  and those that connect to the main trunk of the body. After they are separated out, they can be grown in culture (in a dish in the lab) . He then showed that these two different subtypes of motor neurone acted very differently in their response to chemicals known as neurotrophic factors . The word neurotrophic can be literally translated as ‘nerve nourishing’ and these chemical compounds have attracted a lot of attention in the past as possible therapies for MND, with a couple being tested in large clinical trials . Unfortunately these trials have not shown any effect, but this could be because  – as Dr Haase showed in his lab studies – each neurotrophic factor only acts on a proportion of motor neurones. He suggested that the different ‘survival profiles’ he sees in his cellular studies  provide a rationale for selecting combinations of different neurotrophic factors for further testing in mice – and hopefully in man.

Prof Pam Shaw (University of Sheffield) also asked the question of what makes  oculomotor neurones  different, but her presentation took us from mouse to man. Using a technique called laser capture microdissection, which allows individual motor neurones to be removed from post mortem spinal cord tissue form MND patients, she and her colleagues are able to examine which genes  were switched on and off in the cells. Research like this requires very high quality tissue, removed shortly after death, but Sheffield happens to host one of the best MND tissue banks in the country.

She compared these ‘gene expression patterns’ in the disease-resistant oculomotor neurones with the more vulnerable motor neurones  from the lower spinal cord. There were  considerable differences in the patterns, with a much larger number of genes being switched on in the oculomotor neruones. Many of these genes could be dividied into functional families, which act on a similar biological pathway. Key protective processes activated included neurotransmission, mitochondrial function and proteasomal function – all of which are strongly implicated in MND. If human oculomotor neurones  survive by gearing up these  protective pathways, it provides possibilities that drugs can be found which act in the same way.

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp 

Reflections on the poster session

In Chicago, it’s the beginning of the third day of the International Symposium on ALS/MND. I feel that I’ve become almost institutionalised: I get up, have breakfast and head down to the ‘Ballroom’ floor of the hotel. After saying a few hellos, I’ll head to my chosen session, settle down, get my notepad out and open my ears.

I’m really looking forward to hearing an update on the role of non-neuronal cells this morning. The opening speaker, Serge Przedborski, from Columbia University USA, is a name I’ve been reading on the top of research papers for years. So it will be great to hear what he has to say.

Poster session delegates

But before I head down there, I’m trying to unravel the blur of new ideas and people that I met yesterday, so I can tell you about them. It’s quite hard to remember who I heard when and recall the thing that made me sit up and scribble more furiously than before. I wanted to write more, but found myself writing lots about the posters and not finishing this until after the non-neuronal cell session – which lived up to expectations by the way!

Yesterday morning began with the poster session. It was the second poster session of the meeting, the first was on the evening of the first day. The two sessions felt quite different ‘a game of two halves’ is the phrase that comes into my head. At the first, there were lots of people there and lots of discussion. At the second, it was quieter, and more in depth, earnest conversations went on. At the second session it felt like, ‘ok we’ve done all the meeting and greeting, now let’s get down to the business of looking hard at the wealth of information that’s here to be digested’.

On Wednesday evening, my first concern on entering the room was ‘Has everyone put their poster up?’, ‘Can delegates find their way around?’, ‘Is there enough space to get past / light to read the poster?’ I spent most of Tuesday setting things up for the poster session – so I’m seeking reassurance!.

At allotted times throughout the two sessions, presenters are required to attend their poster – to give other delegates on opportunity to discuss their results, methods and interpretations. The times are printed in the programme for the meeting – so if there’s someone you definitely want to talk to, catching them at their poster slot is a good bet. That’s particularly true this year with over 900 people attending. Once I’m reassured that it all looks to be working well, I started to head to the part of the room where I know the presenters will be standing by their work.

The room is literally buzzing with people talking about MND research and the clinical management of the disease. There are lots of people here, many that I know and haven’t spoken to yet! So I stop to have a chat, see how their work’s going. I take the ideas that one researcher has told me and carry them along to a poster a few metres down the room. I quite often find myself asking, ‘So, how does your data compare to poster X’ or ‘Poster Y / person Z is looking at a similar area, have you spoken to them’. Before I know it, the sessions come to an end – and / or I’ve hit a wall where I can’t digest any more science – and I didn’t get to see the posters I was really interested in reading.

Poster session delegates

On my second visit, I’m a lot more focussed, but even then, I find myself getting disctracted in lots of interesting ways. Which is how I came to have a conversation about the costs of getting a genetic test in USA. Until a year or so ago genetic tests for MND weren’t part of a medical insurance packages. Thank goodness for the NHS, making decisions about whether to undergo a test to see if you carry a gene for MND in those rare cases where there is a family history of the disease are difficult enough, without having to consider whether you can afford it too. Another ‘chance’ poster was learning about a novel, and very new, way of managing dysarthria. The neurologist explaining this data gave me a quick tutorial on what happens in dysarthria: basically the closure of a passage between the nose and the throat doesn’t function properly – air escapes up to the nose when speaking, but also when breathing in (the latter means that less air gets to the lungs)(P25 in the abstract book if you want to know more). This can be corrected by putting in a plate (a bit like the plates that are used for false teeth), but this is poorly tolerated by people with MND. So, trying a method that has worked for non-MND patients that have a similar problem, Dr Storck from Switzerland, and colleagues have used a fat transplant, to help this passage way close more effectively. It’s early days, its only been done in three patients so far, but they report a positive effect.

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp 

The clinical trials session

A very much ‘must report on’ session of the 23rd International Symposium on ALS/MND was the clinical trials and trial design session. There are many reasons that make this an interesting session – perhaps the most eagerly anticipated were the presentations on the NP001 study and the results of the stem cell safety trial:

NP001 update

We reported on the blog on 1 November the results of the NP001 study, and these findings were confirmed today by Dr Bob Miller from Forbes Norris Centre in California USA. The trial showed that intra-venous administration of NP001 was found to be generally safe and well tolerated, with a modest clinical benefit seen in the high dose (2mg/kg) group.

As previously reported in their press release, ‘post-hoc analysis’ (meaning literally after the event), showed that some patients in the higher dose group did not have any change of a scale that measures the functional capabilities of people with MND called the ALS-functional rating scale (ALSFRS) over the course of the study. Historical controls were used in the post-hoc analysis – the first time that the US Food and Drugs Administration (FDA) had allowed them to do this.

The room was packed and there were five people queuing to ask questions about this talk. Questions were asked about the use of historical controls; the possibility that patients would identify that they were in the treatment group due to the presence of a ‘burning feeling’ at the injection site; and about other forms or ways of taking NP001. On the last of these points, a question about the chemical structures of NP001 and WF10 went unanswered.

But Dr Miller was categoric about different ways of taking NP001. “Taking NP001 in any other route [than intra-venously] is unsafe and unproductive”.

Results of stem cell safety trial

The first regulatory body (FDA) approved phase I safety trial of a stem cell treatment for MND, conducted in America, is now complete. Dr Johnathan Glass from Emory ALS Center, Georgia USA presented the results of this study.

In the last 5-10 years there has been a huge amount of interest from MND researchers, clinicians and patients alike about the possibility and potential for using stem cells to treat MND. More information about what stem cells are and how they might help is available on the MND Association’s website.

As for any other drug or potentially beneficial intervention, the first part of the assessment should always be to obtain a robust and objective measure on whether such a treatment is safe, and this is what the NeuralStem study was designed to find out.

A team of highly trained specialists, in close consultation with the FDA, designed a study to look at the safety of giving an injection of stem cells directly into the spinal cord of people with MND. Eighteen surgeries were performed on fifteen patients – three of these patients volunteered to have two surgeries (two injections).

The first three people with MND recruited into the study received a single injection of stem cells on one side of the bottom (lumbar) of the spinal cord. The next three received injections on both sides of the lumbar spinal cord. These first six patients were at an advanced stage of MND, where they were unable to walk.

The next six patients, who were able to walk, received injections at one or both sides of the lumbar spinal cord. The last three patients received a single injection higher up the spinal cord (cervical) and finally, the three patients able to walk who received a single lumbar injection underwent a second surgery to receive a single cervical injection.

The results from the first six patients has already been published in a scientific paper:

Stem Cells 2012 30(6) 1144 – 51

Dr Glass concluded that the procedure is well tolerated and safe and that there is no indication that the surgery accelerates the progression of the disease. The next phase of the study, giving injections into the cervical spinal cord at increasing doses (numbers of cells) is funded and is awaiting FDA approval.

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp 

Mastering Pac-Man

Growing up in a seaside town in the 1980s led to me spending a lot of my “formative years” in the local amusement arcades, playing iconic video games like Space Invaders (at which I was average) and Asteroids  (I was the kid to beat!). One game I never got the hang of was Pac Man, where you had to guide a munching yellow ball around a maze eating up lots of dots. I even bought a book ‘Mastering Pac Man’ which didn’t help much – I was just plain rubbish!

Pac Man chasing Dr Brian Dickie
Dr Brian Dickie and Pac Man

Talking about rubbish, fast forward 30 years and Prof Anne Simondsen from The University of Oslo is on the platform in Chicago describing the ways in which neurones deal with their cellular rubbish, such as poorly manufactured or damaged proteins.

Much as the dots are gobbled up by Pac Man, so cells employ a couple of basic ways to dispose of and recycle damaged proteins. One is a process called proteasomal degradation, which has been discussed on this website before by one of our guest bloggers, Prof John Mayer. However, some proteins, especially protein aggregates, are a bit too large and tough to be broken down by the proteasome, but they can be degraded by another process called autophagy – which can literally be translated as ‘self-eating’.

Prof Simondsen explained how aggregated proteins and even larger cellular structures can be packaged up for destruction by being encapsulated within membranes, forming structures called autophagosomes. These in turn seek out a structure called the lysosome, which contains digestive enzymes which break down the protein rubbish and keep the cell ‘spick and span’.

Using studies involving fruit fly models (a favourite model for cell biologists) she showed that the autophagy process declines with age, which is unfortunate because protein damage tends to increase with age. It was therefore no surprise that the level of autophagy in the brain was directly associated with the accumulation of protein ‘inclusions’, the health of neurones and the life expectancy of the flies.

Much of the evidence supporting a role for autophagy in neurodegeneration comes from the field of Huntington’s disease. Prof Simondsen explained how a particular mutated protein – called huntingdin – accumulates in the dying neurones and is a classic pathological hallmark of the disease. She demonstrated that autophagy normally plays a central role in the disposal of damaged huntingdin, but the system simply cannot cope with the amount of damaged protein, which starts to accumulate and literally ‘gunge up’ the cell. However, by stimulating the manufacture of additional autophagy machinery, the amount of aggregated protein can be reduced, helping to protect the neurones. This has so far only been shown in simple lab models of Huntington’s disease, but the encouraging results mean that further development to try and develop a treatment is underway.

So, could a similar approach be useful in other neurodegenerative diseases such as MND? Certainly, for some types of MND, such as those linked to a rare gene mutation called CHMP2B, it appears that a component of the autophagic machinery is impaired, which leads to protein build-up in cell models.

Dr Eiichi Tokada (Umea University, Sweden) provided further evidence that autophagy plays a role in disease progression in the SOD1 form of MND. By switching off a crucial component of the autophagy machinery, the disease progression in SOD1 mice was accelerated and their lifespan shortened. In addition, when he examined the spinal cords of the mice, he saw an increased presence of the characteristic SOD1 protein aggregates – a pathological hallmark of the disease.

Dr Faisal Fecto (Northwestern University, USA) provided evidence from a third genetic cause of MND. He showed how mutations in the Ubiquilin 2 gene disrupt the autophagy pathway by stopping the autophagosomes from linking up with the lysosomes.

So, it certainly seems that autophagy has a role to play in some of the rarer familial froms of MND. It remains to be seen to what extent it is involved in MND more generally, but it may mean that the potential treatment strategies being developed for Huntington’s disease may offer future opportunities for MND as well.

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp

A prize-winning story worth repeating

Many congratulations to Rosa Rademakers from Mayo Clinic Florida USA, winner of this year’s Paulo Gontijo Young Investigator award. She won the award for her work on co-discovering the gene defect in C9orf72.

As part of her prize (in addition to a medal and a cheque to continue her work) she gave an overview of the research at the opening session of the 23rd International Symposium on ALS/MND. The story was one of looking in some unusual places as well as all the obvious places to locate a gene defect had been thoroughly searched by researchers around the world. Dr Mariely DeJesus Hernandez in Dr Rademakers lab spotted something odd about the way the C9orf72 gene was inherited from the respective parents of someone with MND. She should’ve seen the copy from the mother and the copy from the father, but using their usual laboratory experiment, a copy of the gene from one of the parents wasn’t found.

One explanation for this unusual finding was that there was a ‘repeat’ sequence – that the experiment she’d run wasn’t set up to find. So, thanks to all the previous reports in the literature, Dr Rademakers and colleagues tried a lab experiment that other people had used to detect repeat sequences in other (ie non-MND) diseases. Use of this new lab experiment led to them identifying the presence of a long repeat in people with MND but not in unaffected people.

After a brief history of the discovery of this important gene defect, Dr Rademakers went on to give an overview of research around the world. It was interesting to see that this has worldwide significance. She showed a graph representing the percentage of cases of people with a family history of MND where C9orf72 had been discovered. The bottom line was that C9orf72 repeats are found in 34% of people who had MND with a family history of the disease and in 26% of people who had FTD with a family history of the disease.

But although much has been achieved in identifying this gene defect and the colossal amount of work worldwide since its discovery, in her final slide, Dr Rademakers reminded us that there’s much still to be done. For every concluding comment there was a list of two or three questions that the new information provoked.

This talk was an excellent starting point for a topic that was and will be repeated many times (pun intended) through the International Symposium.

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp

Lets talk together

Dr Rick Bedlack, founder of ALSUntangled speaks at the International Symposium about assisting patient choices. Dr Belinda Cupid, from our Research Development Team explains more:

Neurologist and natty dresser Dr Rick Bedlack, from Duke ALS Clinic in North Carolina USA, took on a challenging topic of patient decision making at this afternoon’s session of the 23rd In ternational Symposium on ALS/MND from the perspective of different decision making models.

In quite a philosophical talk, he framed the discussion of the different models of doctor – patient relationships from a discussion that he’d had with one of his patients. An educated patient accepted Dr Bedlack’s offer of riluzole and management of their care through a multidisciplinary team care approach, but declined to participate in a research study. The patient explained that they were going to pursue an unproven treatment that they’d heard about. Dr Bedlack commented that “their decisions bothered me and I started to think about why they bothered me”.

Starting with their refusal to participate in clinical trials, from one perspective, slower enrolment…

View original post 369 more words

Recognising and supporting the role of informal carers

The symposium session ‘Carer and Family Support’ provided a platform to better understand the role that informal carers play in the lives of people with MND and discussed ways that we can improve support to carers.

Having a session dedicated to carers acts as a global recognition of the vital role that they play in the everyday lives of people with MND. It also emphasizes that we need to understand and explore the challenges that carers face in order to support them.

The role of a carer
Carers of people with MND will inevitably face additional challenges and stresses. They are often thrown into their caring role, with little time to think about what it involves or how to seek help and support and many will not recognise or be reluctant to be recognised as a ‘carer’. They will be coping with the unpredictability of the disease, often rapid changes, as well as knowing that the person they care for will die.

It is clear that carers play a central and vital role in the journey of a person with MND and therefore should be able to be involved in all decisions from the beginning. Although many of the needs of the person with MND and their carer will be overlapping, as the disease progresses and the burden of care increases there needs to be a heightened awareness and recognition of the specific needs of the carer.

We spoke to Dr Chris McDermott about his talk in the carer’s session before the symposium to find out what his findings really mean to people affected by MND.

Dr Chris McDermott presents carer findings at the symposium
Presenting his recent carer study findings at this session was MND Association funded researcher, Dr Chris McDermott from University of Sheffield.

Dr McDermott told us that “It is well recognised that there is a strong association between carer well being and the well being of people living with MND. It is therefore important to support those in a caring role. We are keen to understand the needs of individuals caring for people living with MND.”

Dr McDermott told us that he’ll be discussing his group’s latest findings at the symposium on the experiences of informal carers of people with MND, and will be recommending how support for carers could be enhanced.

Speaking to us before the symposium, he summarized his group’s findings: “Our findings have highlighted the need for not only emotional support, but also the physical impact of caring for a patient with MND to be recognised; the importance of services co-ordinating their input, particularly in the early stages following diagnosis in order to avoid adverse impact on patient and carer lives; the considerable challenge for many carers in having time away from the patient and accepting professional services, which needs to be overcome if respite or care services are to be taken up; and the challenge of providing equipment at the optimum time. Having identified these key needs of carers we can begin to develop changes to services and interventions to meet these needs.”

How we’re supporting carers
In January 2012, the MND Association introduced its Carer’s strategy. The strategy forms the basis of our commitment to carers of people with MND and provides the focus and direction required in order to meet our mission and values as outlines in our Strategic Framework: A world free of MND.

The MND Association undertook a carer’s survey in 2011 that resulted in the following statistics:

  • 75% of carers are female
  • 70% care for over 50 hours a week
  • 60% are over the age of 60
  • only 19% get planned regular breaks
  • 40% are concerned with loss of earnings.

Through the implementation of its strategy throughout 2012 and in the future, the MND Association has begun to develop carer specific support groups throughout the regions in England. We are currently looking at developing our information provision for young carers and this will be developed in 2013. October 2011 saw the launch of our Carers pack, available through the Care Information team, and by June 2012, 1,200 of these had been circulated. The MND Association continues to offer respite break funding for carers, through the implementation of its Financial Support criteria.

On a wider scale, the Association continues to raise awareness with politicians and statutory services about the needs of carers of people with MND specifically but not limited to carer’s assessments and rights, out of hour’s services and end of life issues.

Information for carers

Our International Symposium website news stories:

International Symposium closes in Chicago

International Symposium focuses on clinical trials

International Symposium focuses on carer and family support

International Symposium begins in Chicago

Researchers unite at our International Symposium on MND

After you’ve finished reading the symposium articles that interest you, we’d be grateful if you could spare a few minutes to fill in our short online survey on our symposium reporting. Your comments really are useful and allow us to continually improve our symposium reporting. surveymonkey.com/s/alssymp 

Nature, nurture, genetics and / or chance – what causes MND?

Trying to understand what the different underlying factors are towards developing MND has always been a goal for ALS research.

MND Association funded researcher and clinician Professor Ammar Al-Chalabi from King’s College London, gave a talk on this topic at the opening session of the 23rd International Symposium on ALS/MND in Chicago. A record number of over 900 delegates gathered to hear his overview of where we are. It was a clear, informative, humorous talk with added technical wizardry!

“People say that this looks like Voldemort, but actually it’s me!” he commented on showing a whole head MRI. Prof Al-Chalabi used this picture to explain the differences between upper and lower motor neurones (upper motor neurones from the brain to the spinal cord and lower motor neurones from the spinal cord to the muscles).

MND is an ‘umbrella’ term for a number of related clinical diagnoses, including ALS, PMA and PLS – the distinctions are made by whether upper or lower motor neurones are affected. However, if you feed lots of data about people with all types of MND into a computer, it comes up with a different group of categories of MND – so there must be more to the causes of this disease than meets the eye. So going back to the title of his presentation are they nature, nurture, genetics or chance?

To look at these questions as a whole Prof Al-Chalabi used an analogy of the great fire of London. The first thing that he commented on was that some buildings were vulnerable to the fire (wooden ones) and some weren’t (those made of stone, with walls around them). The chance element was that the fire start in the east and spread west – due to a gale that day – the direction of the wind is generally in the other direction.

In MND, the chance finding is the hardest to investigate – if we can’t explain it, we’ll explain it by chance! The next section of his talk he gave an overview of some of the many factors that researchers have investigated into looking at the ‘nurture’ aspects of developing MND (a field of research known as epidemiology). Looking at the age that people develop MND, whether there are ‘hotspots’ of areas where people are more likely to develop the disease, links between physical activity and smoking; he said that it was hard to draw conclusions, saying that smoking might be a ‘pre-risk’ factor and the link between MND and physical activity is still being investigated.

The last part of the talk was looking at the genetic component as to why people might develop MND, giving an overview of the latest disease-causing (or primary gene mutations) and risk factor genes that have been found to date. Using illustrations of real-time animations from the Howard Hughes Medical Institute Prof Al-Chalabi described some of the broad categories the gene defects fall into: RNA processing, protein re-cycling system (the proteasome) and those linked to the internal skeleton on the cell (the cytoskeleton).

Perhaps not suprizingly, he concluded that of nature, nurture or genetics as the cause of MND “overall, all these factors play a part, it’s impossible to separate them”.

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