“On the seventh day of Christmas MND research gives to you… our SEVEN research strategy themes”
It’s New Year’s eve, a time to look back and celebrate on 2014 and our MND research achievements. It’s also a time to look to the future; in 2015 we will be funding new MND research in line with our research strategy.
The exact cause of the majority of cases of MND is still unknown. Therefore identifying the causes is our first step in understanding MND and developing future treatments.
In 2014 we identified two new inherited MND genes and also announced funding for the UK Whole Genome Sequencing project to better identify the rarer genetic factors involved in causing the disease. Read more.
2) Create and validate new models
Once we identify a genetic cause of MND, we need to find out how this gene causes MND. Animal and cellular models help us to find out how the gene affects the motor neurones and how this causes disease in a complex animal system. Continue reading →
“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.
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.”
“On the fourth day of Christmas MND research gives to you… on the FOURTH month of 2014, we announced that we’ll fund an exciting new stem cell project”
Prof Linda Greensmith, University College London
During our April Biomedical Research Advisory Panel Meeting we agreed to fund seven new MND research projects. These projects included Prof Linda Greensmith’s research on Restoring muscle function with transplanted stem-cell derived motor neurones.
Based at University College London, this study will use stem cell technology to restore muscle function in a mouse model of MND. The researchers will transplant stem-cell derived motor neurones and then guide them to where they’re needed using light.
Prof Greensmith and her team aim to restore function to the muscles that are responsible for breathing and develop an optical stimulator, which can then be implanted into the body to stimulate the transplanted cells for long periods of time. If successful, this technique could form the basis of future treatments that could potentially restore muscle function in MND.
Boxing day is here, there’s still some leftover turkey but let’s not forget… it’s the second day of Christmas!
“On the second day of Christmas MND research gives to you… TWO new inherited MND genes”
2014 saw the discovery of two inherited MND genes, the first being MATR3 in March and the second being TUBA4A in October. We will be discussing TUBA4A in a later blog post, but for now, here’s what we know about MATR3:
The MATR3 inherited MND gene discovery has provided us with further evidence that abnormal RNA processing is involved in MND.
The MATR3 protein, which is produced from the MATR3 gene, is commonly found in the nucleus or ‘control centre’ of the cell and is involved in the processing of RNA (the cell’s copy of DNA that is responsible for making new proteins). RNA processing has been previously associated with other inherited MND gene mutations (eg TARDBP and FUS). The MATR3 mutation also affects this process, adding more evidence to the role of abnormal RNA processing in MND.
We would like to wish all our MND Research blog readers a very merry Christmas. To celebrate, we’re posting a short blog during each of the twelve days of Christmas to highlight what we’ve achieved this year in terms of MND research.
“On the first day of Christmas MND research gives to you… ONE vision, a world free from MND”
The Association’s vision is a world free from MND and we are committed to funding 51 research projects, which aim to help us achieve this vision. This year we announced some big research projects, such as the UK Whole Genome Sequencing project. However, next year we hope to be able to fund even more research!
During the 25th International Symposium on ALS/MND there were two dedicated sessions for researchers to view over 300 posters. These posters varied from brain imaging to therapeutic strategies. But what is a poster? In this blog I’ll explain more about the session, as well as highlight some of my personal favourites.
Dr Jakub Scaber next to his poster in Brussels
A biomedical or clinical poster, is in many ways, like an advertising poster. Researchers use colour and text to present their research in a visual way, to engage and discuss their work.
This year’s poster sessions during the symposium were extremely busy, with large crowds often surrounding just one poster and its presenter! The whole room was a real ‘buzz’ of excitement with poster presenters benefitting from the interest and discussion of their work from researchers around the world.
Our Lady Edith Wolfson Clinical Research Fellow, Dr Jakub Scaber (University of Oxford) said: “I didn’t expect such an interest in my work, I ended up being in discussions for well over half an hour – I didn’t even get chance to remove my coat! I really enjoyed the symposium and got to speak to a few more people than I did last year!” Continue reading →
Association-funded researcher, Prof Julie Snowden from the University of Manchester was invited to present her research on MND and frontotemporal dementia at this year’s 25th International Symposium on ALS/MND. She is asking whether people living with MND and frontotemporal dementia develop a different form of dementia that is different to those with frontotemporal dementia alone.
In 2011, when researchers discovered the C9orf72 inherited-MND gene, it was also linked to the related neurodegenerative disease frontotemporal dementia (find out more about inherited MND here). This increasingly recognised form of dementia has different signs and symptoms to the more common Alzheimer’s disease, but is less understood.
Researchers are now studying these previously separate diseases together. By working collaboratively with dementia researchers, we are beginning to understand this gene and the link between the two diseases. But what precisely is this link? In the past there were distinct disorders? Prof Snowden answered these questions as thinking of MND and FTD as a spectrum. Continue reading →
As well as biomedical research, we fund healthcare research to lead to better symptom management and support for people living with MND. On the final day of the symposium, Dr Stavroulakis from the Sheffield Institute for Translational Neuroscience (SITraN), presented results on his Association-funded research.
In some people living with MND, the muscles involved in chewing and swallowing can become slow, weak and/or uncoordinated. This can cause difficulty when eating and drinking. Continue reading →
The opening presentation of this morning’s session of the International Symposium on ALS/MND set the tone for the rest of the day – almost literally, it was as if there was a neon light outside the lecture theatre saying ‘exciting science being presented here’.