Nurturing the future of MND research – new opportunity for researchers

We are pleased to announce that as well as applications for our next round for PhD Studentship applications, we are also accepting applications for our brand new Non-Clinical Fellowship scheme. These fellowships are aimed at early career researchers across a range of disciplines, allowing them to take the reins of their very own research project. University of NottinghamMNDA ResearchPicture by Vicky Matthers iconphotomedia Continue reading

Breaking the Human Genome Code

Dr Johnathan Cooper-KnockProfessor Winston Hide gave his inaugural lecture on 17 March, during Brain Awareness week, entitled ‘breaking the human genome code – opening Pandora’s box’, which you can watch in full at the end of this blog post.

Professor Hide recently joined the University of Sheffield, and MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock has written a blog below about Professor Hide’s research and how they are working together towards a world free from MND: Continue reading

The TBK1 jigsaw puzzle

samplesFollowing on from the identification of the gene TBK1 as a contributory risk factor for MND in February, the plot thickens further with research published yesterday by Dr Jochen Weishaupt and colleagues.

Published in Nature Neuroscience, the team found mutations in the TBK1 gene as a cause of both inherited MND and frontotemporal dementia in Germany and Sweden. Continue reading

Researchers identify the TBK1 gene as a risk factor in MND

recyclePublished on 19 February 2015 in the Journal Science, an international team of scientists have found mutations in the gene TBK1 as a contributory risk factor in MND.

Identifying TBK1

The majority of cases of MND are caused by a combination of subtle genetic, environmental and lifestyle factors. These subtle genetic factors in the majority of cases of MND (sometimes known as susceptibility genes) may increase someone’s risk of developing MND, but they do not solely cause the disease (they must be present in combination with a number of other factors in order to tip the balance for someone to develop MND). Find out more here.

Under the leadership of Dr Goldstein, based at Columbia University, the researchers have identified a new MND susceptibility gene – TBK1.  The researchers used whole genome sequencing to sequence the entire DNA of over 2,874 MND samples in America – you can find out more about this technique here. By screening a large number of samples, the researchers identified mutations in the TBK1 gene as a common subtle genetic factor involved in some cases of MND in America. Continue reading

Buckets more research – some of our plans for the Ice Bucket Challenge money

Today’s announcement of the difference the ALS / MND ice bucket challenge has made included a number of areas of research investment. You’ll be hearing much more about these as our plans develop, but here are three examples to give you a flavour of things to come.

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Oxford researchers get an icing!

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New fellowship awarded to further our understanding of RNA in MND

Dr Pietro Fratta (University College London) received his initial Training Fellowship through the MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Programme in 2010. Starting on 1 February 2015, Dr Fratta was awarded a Clinician Scientist Fellowship to continue his research into MND.

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Totalling £1.16 million, of which the Association has committed to contribute £280,000, this new fellowship will allow Dr Fratta to find out what RNA molecules are present in both the cell body of the motor neuron, and the nerve fibres. Continue reading

Research priorities in palliative and end of life care

Palliative-care-2In 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

Measuring the nerve impulse

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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

SOD1 Stuff

With all the talk of new gene discoveries in recent years, the Sunday morning scientific session returned to the original discovery in 1993 that mutations in the SOD1 gene were responsible for around a fifth of familial (inherited) MND cases and 2-3% of all cases of the disease.

Although much of our understanding of MND in the past two decades comes from SOD1 laboratory models of the disease, we still don’t know exactly how SOD1 kills motor neurons. But that hasn’t stopped several groups from working on a number of innovative ways of protecting motor neurons from SOD1 toxicity. Although focused on a relatively rare form of MND, some of the strategies being followed could potentially also be applicable to other forms of the disease.

sod1 stucture Continue reading

Gastrostomy in MND: Progress in ProGas

9 bAs 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