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.
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. Continue reading →
In a fitting start to a new year, the results of the Palliative and End of Life Care Priority Setting Partnership top 10 priorities for research were released today. The topics range from: the best way to get out of hours palliative care, how to provide palliative care for everyone irrespective of where they live in the UK, to the best way to manage pain and discomfort for people with communication or cognitive difficulties.
For the MND Association the results will help focus future healthcare research and help support our campaigning for more funds for palliative and end of life care. Announcing the top 10 priorities for research is the start of a long process. I hope that it gives people with MND today a sense that their battles are being recognised, they’re not alone and that we’re all working together to ensure that better care is available. Continue reading →
Researchers identify that loss of nerve signalling may be an early sign of MND
Published in Nature Communications on 12 January 2015, Association-funded PhD student Anna-Claire Devlin, based at the University of St Andrews, has identified that loss of nerve signalling may be an early sign of MND.
Under the leadership of Dr Gareth Miles and Prof Siddharthan Chandran (University of Edinburgh), Anna-Claire measured the nerve impulses in stem cell derived human motor neurones and identified that the ability to send a nerve impulse is impaired during the early stages of the disease. Continue reading →
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
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!
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!
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.
“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.