Investigating the role of the cell’s waste disposal systems in TDP-linked MND

In April 2016, Dr Jackie Mitchell gave a talk at the Regional Conference in Gatwick to explain the aims of her three year MND Association funded research project. We have now received her second year report. In this blog we explain a little bit more about what she’s been doing. She has already made some good progress.

A little bit of background
One known genetic cause of MND is a defect in the TARDBP gene, which makes the protein TDP-43, that can be found in the nucleus of a healthy cell. The nucleus is the part of the cell that contains all our DNA. Healthy cells also have two major ‘waste disposal systems’ which break down and remove unwanted proteins from cells. More information on the role of TDP-43 in MND can be found on our blog. Continue reading

11th Lady Edith Wolfson Clinical Fellowship awarded

We are delighted to announce that Dr Arpan Mehta has been appointed as our latest Lady Edith Wolfson Fellow, jointly funded by the MND Association and Medical Research Council.  This clinical research training fellowship will help to launch his career as an aspiring academic neurologist, providing comprehensive training in cellular, molecular and bioinformatics technologies in a world-class environment. Continue reading

Shining a light on our non-clinical fellow: Using blue light to control muscle movement

The MND Association is proud to support the brightest minds of MND research. Outside of general healthcare and biomedical project grants that are usually awarded to senior researchers, we also offer opportunities to young researchers – these take the form of PhD studentships and fellowships.

Fellowships are awarded to post-doctoral researchers who are able to support a research project as the leading investigator. Depending on their qualifications, the fellowship can either be clinical (for healthcare professionals) or non-clinical (for researchers with purely academic background). In the last round of non-clinical fellowship applications in October 2016, the MND Association awarded a senior fellowship to Dr Barney Bryson of University College London. In his upcoming project, due to start in August 2017, he will follow up on the findings he found together with his team, led by Prof Linda Greensmith. Continue reading

Life of an MND researcher: part 1

Each year, the MND Association dedicates the month of June to raising MND awareness. This year, we focus on the eyes – in most people with MND the only part of their body they can still move and the only way left for them to communicate. Alongside the Association-wide campaign, the Research Development team selected six most-enquired about topics, which we will address through six dedicated blogs.

We all know that rigorous research is the key to finding a cure for MND. Scientists are working hard every day to find the causes of MND, developing new treatments that would help tackle the disease and also looking for new ways to improve the quality of life of people currently living with the disease. But what does it take to have research at heart of everything you do? What is the typical day in the life of a researcher and what does carrying out a research study actually involves?

We asked eight researchers to give us an idea of what their research is all about and what their typical day looks like. Read about four of them in the following blog and keep an eye out for ‘Part 2: PhD edition‘ in the next few days… Continue reading

ANXA11 – another gene closer to understanding ALS

A new research paper has been published today in the Science Translational Medicine journal, describing a new gene implicated in developing MND. What is this gene and why is it important for our fight against MND?

Although they are not the sole cause of MND, genes play a big role in someone’s probability of developing the disease. A number of such genes that make a person susceptible to developing MND have already been identified, with most of them causing the rarer, inherited form of the disease.

A new addition to a list of genes that are related to development of ALS, the most common form of MND, has been discovered by researchers from King’s College London. Dr Bradley Smith and colleagues screened genetic data of an unusually high number of people of European origin: 751 with inherited – familial – ALS (fALS) and 180 with non-inherited – sporadic – ALS (sALS). Detailed analysis of this data found that specific mutations in the ANXA11 gene are associated with around 1% of all fALS and 1.7% of all sALS cases. Continue reading

Focus on the research presented in posters in Dublin

Over 100 talks were given at this month’s International Symposium on ALS/MND in Dublin. There were also over 450 posters of research being presented too. Time in the conference programme was allocated on Wednesday and Thursday evening (day 1 and day 2 of the 3 day conference) to visit the posters – you might think that scheduled at the end of the day they would be less well attended – but not a bit of it! It was an extremely loud and buzzy part of the conference.

Below is a brief round-up of some of the posters that caught my eye. Continue reading

Using stem cell technology to understand more about how MND and FTD develop

The MND Association are funding Prof Kevin Talbot, Dr Ruxandra Dafinca (née Mutihac) and colleagues at the University of Oxford, who are investigating the link between the C9orf72 and TDP-43 genes in MND. We wrote about this research earlier in the year. As we’ve recently received their first year progress report we wanted to give you an update on what they’ve achieved. Continue reading

New fellowship to investigate muscle fasciculations

During Awareness month in June we reported on the work of Dr James Bashford at King’s College London, exploring new ways of measuring muscle fasciculations in people with MND. The results from the one year pilot study have shown a lot of promise, which has led to Dr Bashford recently being awarded a Clinical Research Training Fellowship.

A common symptom of MND is the ‘rippling’ of muscle under the skin, these are known as muscle fasciculations. Continue reading

New genetic discoveries tell us more about what causes MND – Part 2

Two sets of MND genetic results were published yesterday. One of these results was about the importance of a new gene called NEK1. The second highlighted the role of gene C21orf2 in MND – we wrote an article about this yesterday. Both sets of results were published in the prestigious journal Nature Genetics.

What are the results and what do they tell us?

Researchers found that variations in the NEK1 gene contribute to why people develop the rare, inherited form of MND. Variations in the NEK1 gene were also found to be one of the many factors that tip the balance towards why people with no family history develop MND.

NEK1 has many jobs within motor neurones including helping keeping their shape and keeping the transport system open. Future research will tell us how we can use this new finding to target drugs to stop MND. Continue reading

New genetic discoveries tell us more about what causes MND – Part 1

Today some exciting news about the genetics of MND was published in the scientific journal Nature Genetics. The results come in two research papers published in the same issue of the journal.

This blog post discusses the results of the first of these papers for which King’s College London based Professor Ammar Al-Chalabi was one of the leading researchers. A post on the second paper will follow later.

Here we’ve given an overview of what the researchers have found, what it means for people with MND and how the analysis was conducted. You can read a more detailed explanation of the research results from the King’s press release. Continue reading