The MND Register of England, Wales and Northern Ireland

What is the MND Register?

The MND Register is a major five year project that aims to collect and store information about every person living with MND in England, Wales and Northern Ireland. It is led by world-class MND researchers Prof Ammar Al-Chalabi and Prof Kevin Talbot, at a cost of £400,500 (our grant reference: 926-794).

Why is it important?

MND is believed to affect 5,000 people in the UK at any one time, however the true figure is not known as there is currently no way of recording this information. The register aims to provide us with the true number of people living with MND in the UK.

The information collected will answer questions about how many people have MND in different areas, how the condition progresses, and how the disease can affect people. The register will connect people with MND to researchers, including those conducting clinical trials, and will provide valuable information to guide the future development of care services.

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How will information be collected and used?

The register will be advertised nationally to all people with MND and related healthcare professionals. People with MND will be provided with detailed information about the register, and after some time for consideration, they can agree to take part. Their information will be recorded onto a secure database, either by a healthcare professional, or by the person with MND themselves through a register website (this will then be checked by a healthcare professional).Read More »

Understanding and preventing the protein build-up that can cause nerve cells to die

Prior research has already shown that build-up of the protein TDP-43 is found in the majority of cases of MND (irrespective of whether it was caused by an inherited genetic mistake). In healthy nerve cells, TDP-43 is normally found in the cell nucleus (the management centre of the cell). But when we look at nerve cells from people with MND, we see that the TDP-43 has left the nucleus and moved to the main body of the cell and clumped together. We do not know why this happens, or how it leads to cell damage in MND.

In nerve cells, old proteins are ‘tagged’ for breaking down and disposal (or recycling). We have an idea that TDP-43 may impact on this process.

To investigate how TDP-43 causes motor neurones to die, Dr Jacqueline Mitchell and her team at King’s College, London have created several new mouse models to investigate how TDP-43 causes motor neurones to die in MND (our grant reference: 828-791).Read More »

Professor Ammar Al-Chalabi wins prestigious prize

Huge congratulations to Professor Ammar Al-Chalabi for winning the prestigious Sheila Essey Award at the American Academy of Neurology (AAN) research conference taking place in Vancouver, Canada.

Professor Al-Chalabi is an MND Association funded researcher and Professor of Neurology and Complex Disease Genetics at King’s College London. He is also the Director of our MND Care and Research Centre at King’s.

The Sheila Essey Award is jointly given by the AAN and the ALS Association in the USA, and recognises an individual who has made significant research contributions in the search for the cause, prevention of, and cure for amyotrophic lateral sclerosis (ALS, a type of MND).

Prof Al-Chalabi is receiving the award for his role in helping us learn more about the complex causes of MND, including the role of genetics in the non-familial form of MND.

“It is a wonderful acknowledgement of the work the present and past members of my team have done in ALS/MND research,” Prof Al-Chalabi said.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 »

New ALS gene represents another small step

It wouldn’t be the Symposium without a new gene discovery.

Although technology has allowed incredible advances in the gene-hunting field, this is countered by the fact that as more and more familial amyotrophic lateral sclerosis (FALS) genes are found, it makes the search for the remaining unknown genes harder  This is in part due to the fact that the undiscovered genes are likely to be increasingly rare (so even more rigorous detective work is needed) but the challenge is compounded by the fact that there are fewer and fewer samples with an unknown cause available each time a new gene is found.

The solution to these problems lies with greater collaboration, sharing knowledge, expertise and of course the vital samples needed for the research to happen.Dr Brad Smith

Dr Brad Smith (King’s College London) unveiled the latest collaborative effort, involving over 50 researchers across 9 countries. The researchers took an approach called Exome Sequencing, which analyses the 1% of the genetic code where most mutations are likely to be found, to look for genes in several hundred FALS cases where the genetic cause was still unknown. They then compared their findings with those from 60,000 individuals in publicly available databases.Read More »

Improving the classification of ALS – can we make it logical?

Yesterday at the International Symposium on ALS/MND Prof Ammar Al-Chalabi (Director of King’s Care Centre and Professor of Complex Genetics at King’s College London) cautioned the motor neurone disease (MND) research community about the confusing way we describe this disease we are all fighting. He started his talk by showing a standard definition of what MND is, and then pointed out some of the areas that were inconsistent – or has he put it, illogical.

For example is MND described by: whether it affects the motor neurones running from the brain to the spinal cord (upper motor neurones) or from the spinal cord to the muscles – whether that’s in our hands, arms or feet (lower motor neurones)? Or is it defined by where the symptoms appear – in what Prof Al-Chalabi described as the geography – either with speech and swallowing problems, or foot drop, or clumsiness / loss of dexterity in the hand?

Asking the Dr Spock question..

To illustrate his point he shared the results of a survey he’d carried out with over 100 neurologists across Europe, North America and Australia. Firstly he asked them what terms they used to give definitions of MND, ranging from amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) and progressive muscular atrophy (PMA) to ‘classical’ MND – from a list of 26 descriptions, all of them were used!Read More »

Pretty ‘fly’ for a fruit fly

A fruit fly

Dr Frank Hirth is one of the world’s leading fruit fly MND researchers. Based at the Institute of Psychiatry, Psychology and Neuroscience at King’s College London, he has been working on an Association-funded project developing a C9orf72 fruit fly model of MND. Here we mark the end of this project, and report on what the researchers have achieved.

Background

In September 2011, an international collaboration, co-funded by the Association, had discovered a genetic mistake within the C9orf72 gene that was found to cause almost 40% of cases of inherited MND. Read More »

On the twelfth day of Christmas MND research gave to me: twelve – a low number of authors on a research paper

The final day of our ‘twelve days of Christmas’ blogs has arrived. We hope you’ve enjoyed our festive overview of 2014 and we look forward to sharing many more research updates throughout 2015!

 “On the twelfth day of Christmas MND research gives to you… TWELVE – a relatively small number of authors for an MND research paper, the TUBA4A paper had 68!”

Dr Bradley Smith, King's College London
Dr Bradley Smith, King’s College London

Gone are the days where there are only three authors on a research paper, especially in genetics! Gene hunting requires a lot of researchers to process and understand a whole lot of data. For instance, the information contained from one human genome is 100Gb of data, that’s equivalent to 102,400 photos!

Now… Project MinE is sequencing at least 15,000 MND genomes! When this research is completed, and the work gets published, it’s going to be a very long list of authors!

Click here to read more about the inherited MND gene, TUBA4A, which was identified in 2014 by 68 MND researchers!

The power of a blot!

During December and November the Research Development team receive a number of Christmas presents from our funded researchers. These presents come in the form of ‘annual reports’ and, although they may not be wrapped in Christmas paper, once you open them you’re sure to find a nice research surprise!

20141020_MND Kings College_221

One of our PhD students, Ambra Annibali, under the leadership of Prof Chris Miller at King’s College London, shared with us a lovely gel image in their report. The ‘gel image’ in this case is what researchers call a Western Blot.

Read More »

On the fifth day of Christmas MND research gave to me: 5+1 steps trigger MND

 “On the fifth day of Christmas MND research gives to you… FIVE +1 triggers believed to cause MND”

Under the leadership of Prof Neil Pearce at Prof Ammar Al-Chalabi, researchers have used a mathematical approach previously used by cancer researchers to explain why MND is an adult-onset disease, and why it varies (even within families).

The researchers found that MND is caused by a sequence of six different events (5+1 as the equation states!) over a lifetime. Each event is a step towards developing MND, until the last one results in disease.

equation

Prof Al-Chalabi said: “The next stage is to try to identify the steps, because this will help us understand what causes MND, help us to design treatments, and could help with reducing the risk of developing MND in the first place.”

Click here to read more about this mathematical approach to MND