Flying towards understanding: MND, TDP43, flies and a competition

Dr Frank Hirth King's College London

Dr Frank Hirth, King’s College London

The MND Association has funded a number of research projects in the laboratory of Dr Frank Hirth at the Institute of Psychiatry, King’s College London. His area of expertise is in using fruit flies to understand how motor neurones die in MND.

There is an opportunity to read a summary of some of his work through an online competition. The article is called ‘The TBPH gene – do neurodegenerative disease have a fly in the ointment’ and it is has been shortlisted forThe People’s Choice award , as part of the Access to Understanding competition.

Please go online, read the article, ‘like it’ and add any comments you’d like to, until a deadline of 12 noon on 24 March.

A background (but hopefully not a spoiler!) to this summary and the competition is given below:

Read the rest of this entry »

Have your say about research priorities

The relative of a close friend of mine is seriously ill with cancer. Supporting my friend and hearing of how their relative is, brings back memories of people close to me that have died. It brings back memories of what happened to them, how it affected me and my family. At the same time I find myself thinking – how would I react to approaching the end of life – would I want to know everything, perhaps I would want to concentrate on living and not think about dying too much?

Either as a relative or someone who has a condition, some of us would be on Google or talking to those around us, looking for answers and reassurance. For some of those questions there aren’t any answers available. Perhaps you can’t or couldn’t find the answers either?

Read the rest of this entry »

Twitter and MND

With over 140 million active users Twitter has grown up a lot since it arrived in 2006. This means that Twitter can be an extremely powerful tool for engaging, influencing and reaching out to a wide range of audiences across the world.twitter-bird-blue-on-white

Twitter is a social network (like Facebook and Google+) which allows you to network and engage with other users.

Anyone who knows me is well aware that I am a very keen advocate of Twitter. I believe Twitter is an excellent tool for engaging with, and getting people excited about science.

As a researcher Twitter can be used to promote and publicise your research (without having to travel to international conferences) and it also enables the public to raise awareness of important issues (like MND awareness month) and engage with the scientific and research community (@ALSuntangled)

As a researcher, Twitter can be used to promote and publicise your research (without having to
travel to international conferences) and find out what’s going on in your field – ‘listening rather than talking’ to your peers.
For more examples of why researchers should be using Twitter please see the post on our Research and Care Community Blog (ReCCoB) ‘Why you should be using Twitter’

Get involved

Our ‘Get Started on Twitter today!’ blog post also on ReCCoB explains how to join Twitter in five easy to follow steps. It covers everything from picking a name, deciding who to follow and sending your first tweet!

To get you started here’s some good examples of Twitter accounts to follow:

It’s OK to ask about MND research

The National Institute for Health Research (NIHR) has launched their ‘It’s OK to ask campaign’ which encourages patients and the public to ask about clinical research.

The campaign was launched on Monday (20 May 2013), ‘International Clinical Trials Day’ and the NIHR will be promoting this campaign throughout 2013/14.

“Clinical research is the way in which we improve treatments in the NHS. In many cases doctors will tell patients about research but we also need patients to ask about it and keep research at the top of the NHS agenda.” – NIHR website

Get involved in MND research

Mo LeCule the MND meerkat

Mo LeCule the MND meerkat

The NIHR is promoting the fact ‘it’s OK to ask about research’ and encourages patients or the public to ask their doctors about current research opportunities. The MND Association has a section on their website that lists ‘current opportunities to get involved in MND research’ and you can find out more here.

Getting involved in MND research does not only mean taking part in clinical drug trials. There are a number of other ways you can help including; questionnaires, tissue donation and fundraising.

“Last year, more than half a million NHS patients chose to take part in nearly 3,000 clinical research studies. Thanks to those patients, we are learning more all the time about how to deal with a whole range of medical conditions – and make some real breakthroughs that will improve thousands of lives.” – NIHR website

Share your experiences

The ‘It’s OK to ask’ campaign is encouraging patients or the public to share their experiences including what they asked and what response they received, via Facebook, Twitter (@OfficialNIHR #NIHRoktoask), phone: 0300 311 99 66 or email:

A Time for New Researchers to Blossom – PhD studentship Applications

It is that time of year again when we open our Online Summary Application Form for our next round of PhD studentship applications, for projects starting in October 2014. The deadline for summary applications is Friday 3 May 2013.

Last Time
Our last round saw an all time record number of studentship applications. We received 18 summary applications and went on to fund five of these attracting new researchers and institutes.

Promising Young Researcher
Our PhD studentship grants allow us to attract and fund promising young scientists starting their careers in MND research and to help us continue to develop the UK basic research capacity. As with all our research projects, we aim to fund the best of the best. Our rigorous application process allows us to ensure we only fund studentships of the highest quality and of direct relevance to MND. To find out more on our application process please see our grant application process.

We are currently funding 15 studentships; five of these are due to start in October 2013.

We hope this year’s PhD studentship round is as exciting as last year!

More Information
For further information on our studentship grants, please see our research we fund and for more details on how to apply for a PhD studentship. Please see our how to apply for funding.

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.

The social and educational effects of caring for a parent with MND

Olly Clabburn

Last year, we helped Olly Clabburn to advertise an opportunity to take part in his dissertation research project on our website and in our monthly membership magazine Thumb Print. 

To give you some feedback on what drove him to study the social and educational effects of caring for a parent with MND and his key findings, he’s written us a guest blog:

When I was seven years old my Dad was diagnosed with Motor Neurone Disease. At the time, I found it hard to understand why he had to stop doing the normal ‘Daddy things’. He stopped going to work, began speaking in a slow and strange way, and then had to give up his car which was extremely hard for him.

Gradually over the three years in which we looked after him at home, myself and my family became full-time carers for him. This involved helping him when he fell over, getting him drinks, food, toileting amongst a plethora of other things. Yet my friends at primary school seemed to be having a very different life at home while I was doing a variety of things for my Dad which I believed to be ‘normal’.

As my Dad began to deteriorate more, caring at home became more and more challenging. Consequently, he moved into the Hospice for the final few years where he could get the specialised help that was now required. Although the Hospice staff were amazing for my Dad and family, the inevitable happened in April 2004 when he passed away after a long battle with MND.

Years passed and after studying Psychology at Sixth-form, I developed a keen interest to how we work as people and why we ‘do’ certain things. I then enrolled in Lancaster University to study Psychology in Education for which I conducted a dissertation research project. Fuelled by my experiences, I decided to further investigate young-carers and their experiences caring for a parent with MND. My project subsequently was titled ‘the social and educational effects of caring for a parent with Motor Neurone Disease’.

Upon deciding to research this specific area, I knew recruiting participants would be challenging with MND being so rare and not generally considered to impact upon young-people’s lives. I therefore established communications with the MND Association in the hope for some advice or guidance. Ultimately, the association made my research possible as without their assistance, I simply would have not been raise awareness of my study and conduct the research.

The MND Association allowed me to publish a letter in the Summer 2011 edition of Thumbprint outlining my study and need for young people who were once young carers. The Association later added a webpage under the research section of the Association’s website which also assisted with recruitment. As a result of the magazine and webpage, I managed to recruit and interview 7 participants who had once, or currently were, caring for a parent with MND.

Upon writing up my research, there were 6 clear themes raised by the participants which were considered to be the main social and educational effects of caring for a parent with MND.

1)      DIAGNOSIS: Many of the young carers felt somewhat confused and unaware about MND and what their parent being diagnosed actually meant. Consequently, it often came as quite a surprise when a parent’s care needs increased. It was also found that the terminal nature of MND was often hidden from the young-people in an attempt to shelter them.

2)      YOUNG CARER DUTIES: One of the key duties a young person adopted after the diagnosis, was increased responsibility for household chores enabling their healthy parent to spend more time with the MND patient. It was also noted that the young people tended to adopt a more ‘social care’ role, meaning they would often sit with their parent and keep them company rather doing the more intimate caring tasks.

3)      RESPONSIBILITIES:  Older siblings tended to adopt a more parental role for younger siblings by helping out with school runs, help with homework or carrying out more caring tasks for the ill parent to shelter their younger sibling. It was also noted that all participants had a greater appreciation for their healthy parent and a closer relationship as a result of MND.

4)      EDUCATION: All participants emphasised the importance of education (school/college/university) providing a period of escapism. This meant that for the time in which they were in the educational setting, they could temporarily forget about life at home and be ‘normal’. Interestingly,  it was also noted that having a parent with MND brought some educational benefits. For example, their parent being permanently at home provided an opportunity to help with homework. It was also commonly acknowledged that the disease/bereavement fuelled a great deal of motivation for the young person to achieve educational success.

5)      SOCIAL: It was noted that peers and friends provided another extremely important method of escapism. Participants found that they could gain advice or simply ease the burden by discussing life at home. It was additionally noted that peers may introduce the young carer to new hobbies and interests which also allowed the individual to escape or channel emotions. However, it was also outlined that guilt was also a common feeling when with peers and not at home with their parent.

6)      POSITIVE ASPECTS: Overall the participants in the research outlined a variety of positive aspects that they have drawn from the experience. Most notably, a feeling of maturity compared to peers, the ability to accurately empathise with others, closer relationship with family members and increased motivation leading to educational success.

Finally, it was noted that a diagnosis of MND is inevitably traumatic and creates many negative outcomes for all involved. The research however aimed to reinforce the idea of optimism thus coinciding with the ‘MND Month for Optimism’ campaign.

Young carers will spend much of their time caring for their terminally ill parent and later suffer bereavement. Nevertheless, the research highlighted the positive benefits that individuals can gain from this known negative experience.

Disappointing results from UK based lithium clinical trial

Yesterday, we announced on our website the disappointing news that the UK-based lithium clinical trial showed that lithium carbonate is ineffective at treating MND.

Commenting on the lithium clinical trial, Dr Brian Dickie, our Director of Research Development said:

“As many people will know, when lithium was first proposed as having benefit in MND, a couple of small, short-term trials were performed to establish whether the drug had a large and rapid effect on physical changes in disease progression. This trial, by contrast, was developed to ask whether the drug had a more subtle benefit over a longer time course, as is the case with riluzole, using survival times as the primary measure. The only way to answer this question was by performing larger, lengthier and more comprehensive studies.

“While the result is deeply disappointing, we now have a clear answer.

“Lithium can be described as a messy drug. It can act in multiple ways in the body, producing potentially beneficial effects as well as possible unwanted side effects. An overall beneficial effect, even modest, would have refocused scientific interest in the drug to try and separate ‘the good from the bad’ with the longer-term goal of developing more effective compounds. This is a strategy that is presently being pursued with regard to riluzole, in a project co-funded by the ALS Association, the University of Reading and ourselves.

“This trial was the first of its type in the UK, devised and run by clinicians without the need for drug company funding. A number of MND clinics that previously had little or no experience in clinical drug trials for MND have developed vital expertise and confidence in delivering trials to the highest standards. This can only help make the UK a more attractive place in the future for drug companies looking to push potential treatments from lab to clinic.”    

Two hundred and fourteen people with MND took part in this trial, each giving up their time to help find us the answers. We’d like to thank those that have taken part in this trial.

One person who took part in the UK lithium clinical trial was Colin Knight. We spoke to him a few years ago about his views on taking part. Please be aware that in the film clip, Colin speaks frankly about his diagnosis.


Read our official press release.

Dexpramipexole clinical trial enrols first participant

We’re aware that thing’s may seem quiet in terms of ‘big’ MND research moments… almost too quiet…

Well, today, the pharmaceutical companies Biogen Idec and Knopp Biosciences announced that the first person has been recruited into their clinical trial to test the effectiveness and safety of a drug called dexpramipexole.

-       Please note: UK trial recruitment has not yet opened.

This is exciting news as it marks an important milestone of a drug reaching a new level in its development. It’s the equivalent of the drug going to University after going to primary school, secondary school and college and passing all its exams with flying colours. It is only by successfully completing these previous phases that the drug can be tested in a large Phase III clinical trial.

With a whopping 804 people with MND set to be recruited into this trial from 11 countries around the world, in three continents, it’s certainly a big trial. Although each centre is set to recruit approximately 10 people, it’s a fantastic opportunity for people with MND from around the world to be involved in this collaborative research effort to find the answer to whether this drug is effective for MND.

With strict inclusion criteria, we are aware that a lot of people will be disappointed that they cannot participate – more information on this can be found in our news in research article on our website.

The official Biogen Idec press release can be found here.

Brain and spinal cord donations provide a timeless legacy to MND research

Tissue donation has played a vital role in many important MND research findings. Without the generosity of individuals who decide to donate their brains and spinal cords to MND research, many of the recent advances wouldn’t have happened or at the very least, the relevance of the findings wouldn’t have been known!

In recent years, tissue donations from patients with the randomly occurring ‘sporadic’ form of MND that account for approximately 90% of cases of MND, and tissue donations from patients with the inherited form, have played an essential role in recent advances.

Timeless legacy
The most recent example of the impact that brain and spinal cord donation has played in MND research is the finding that a gene called VCP causes an inherited form of MND. But what do genetic studies have to do with tissue donation? In order to demonstrate that a mistake in a gene can cause MND, it is important to show the ‘effect’ that the gene mistake had in the body.

In the case of the VCP finding, a brain sample was donated by a patient with MND in the 1970s who had a form of inherited MND. The patient’s descendants then went on to be involved in the study where mistakes in the VCP gene were identified. Even though the brain sample was over thirty years old and had already been used once, the researchers were able to re-use it. By re-staining the sample, the research group were able to show that a protein called TDP-43 accumulates in motor neurones when the VCP gene is faulty.

This is an important finding as it provides further evidence that TDP-43 plays a pivotal role in the development of MND. Without that brain donation back in the 1970s, this finding wouldn’t have happened and we wouldn’t know about the strong link between VCP and TDP-43.

Discovering the importance of TDP-43 through tissue donation
Tissue donated by people with sporadic MND is also playing a vital role in better understanding the role that TDP-43 has in MND. Without people donating brain and spinal cord samples, we wouldn’t know that TDP-43 clumps together in about 90% of cases of MND.

We simply wouldn’t know how important TDP-43 is to MND.

Spot the difference
Having tissue from patients with MND is important, but so is having healthy samples to compare them with. Being able to ‘spot the difference’ between MND and healthy controls is as important as having the patient samples in the first place. Without these samples, it would be like trying to ‘spot the difference’ in one picture.

Make a difference
Tissue donation contributes to groundbreaking MND research leaving a lasting legacy to push our understanding of MND to a new level. It only takes one person to make a massive difference to the future of MND research – just as in the case of the discovery of the VCP gene.

Unfortunately, it isn’t possible to have a look at what happens inside motor neurones of a living patient – the closest we can get at the moment is through imaging studies, which as advanced as they are, are not able, and are not designed, to show what’s happening inside motor neurones. So, the only way researchers can learn about what happens in the brains and spinal cords of patients with MND is to study them.

If you’re interested in donating your brain and spinal cord to MND research then you can read more about it in our tissue donation information sheet.

Please remember that if you are interested then it’s important to set the wheels in motion by talking to an MND tissue bank to ensure that the appropriate paperwork is completed (details of banks are available in linked information sheet). This ensures that arrangements can be made as quickly as possible. It’s also important to tell your friends, family, doctors and neurologists that you would like to donate your brain and spinal cord to MND research so that everybody is aware of your wishes.

Tissue donation is just one way that people affected by MND can have an impact on MND research. If tissue donation isn’t for you, then you can find out more ways to get involved with research by visiting our ‘take part in research’ section of our website.


Get every new post delivered to your Inbox.

Join 2,070 other followers