More information for families affected by inherited MND available online

In April this year MND clinician-researchers Professors Martin Turner and Kevin Talbot at the University of Oxford organised an information day about the rare, inherited form of MND called ‘Families for the Treatment of Hereditary MND’ (FATHoM). The day was filmed and podcasts of the talks have recently become available. This article gives an overview of each talk and a link to the video. 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

Transforming skin cells into nerve cells to understand MND gene mutations

In previous research Prof Kevin Talbot and colleagues at the University of Oxford began to understand more about how the C9orf72 gene defect causes human motor neurones to die. These studies were carried out using an impressive piece of lab technology, called induced pluripotent stem cell (iPSC) technology.

iPSC technology allows skin cells to be reprogrammed into stem cells, which are then directed to develop into motor neurones. Because they originated from people with MND, the newly created motor neurones will also be affected by the disease. Researchers can grow and study these cells in a dish in the laboratory. Continue reading

Developing a drug screen using nerve cells from a mouse model of MND

In a previous research project funded by the MND Association, Prof Kevin Talbot and colleagues from the University of Oxford developed a new TDP-43 mouse model of MND. Compared to other mouse models of MND, this one accurately reflects the symptoms of the disease and levels of the TDP-43 protein as seen in humans.

TDP43 location in the cell

Location of TDP-43 protein (shown in red) in healthy nerve cells, and how it moves into different parts of the cell in MND

This model of MND also shows how the TDP-43 protein becomes displaced from the nucleus (command centre of the cell) out into the cell cytoplasm, which makes up the cell body. Once TDP-43 has moved to the cytoplasm it is very difficult to shift, as it forms protein aggregates or clumps. It is thought that these clumps contribute to motor neurone cell death.

Prof Talbot’s latest project, together with researcher Dr David Gordon, is using cultured nerve cells from this new mouse model to screen a large library of drugs (our project reference: 831-791).

In the next two years, they will create an automated computerised imaging system that can detect the TDP-43 protein within the nerve cells (and see if it has moved out of the nucleus). With this imaging software the researchers aim to screen thousands of drug compounds in a short space of time, including some which have been approved for other illnesses. A ‘good’ drug will make TDP-43 stay in the correct location within the nerve cell’s nucleus. Continue reading

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). Continue reading

Final thoughts from Sydney

Attending a three day scientific meeting is quite an intense experience, my brain has been working hard and by this morning, there were leaks of stress all over the place!

So in some ways it was quite a relief to walk into the final session of the meeting this afternoon, but in other ways quite sad too. Dr Bryan Traynor from the National Institute for Health in the USA gave a concise, accessible and comprehensive overview of the ground breaking discovery of the C9orf72. It was good to hear the detective story of how he and his colleagues came to actually make the discovery, the analogy of gradually narrowing down the area of DNA to look in from a city the size of Sydney, to a long street to eventually to a small one-road-through-not-very-googable village was much appreciated. (It also manage to increase the species of analogy animals mentioned at the meeting to cows – not one that I’d heard mentioned until then).

For me however, the highlight of this session was Prof Kevin Talbot’s concluding presentation on ‘Where to from here’. It was an articulate summary of what the whole MND research community has been told, discussed and digested over the three day conference and suggested some pointers of where we should go next.

That’s me done until I get back to home!

My grateful thanks to Kelly and Kate back in the office for all their preparatory work for these posts, it was a team effort.

Read our official press release from day three of the symposium.

Funding exciting research

Government cuts to research will have a knock on effect for the future, while cuts to care have an impact on those currently living with MND. Funding and promoting research to ensure a future rich in clinical, scientific and healthcare discoveries for MND is important to us, but we can’t achieve this on our own.

As part of MND Awareness week, a two-part series has been aired on ITV West Country Tonight, focusing on MND and the Government’s spending cuts on care and research. The show featured Prof Kevin Talbot, an MND Association funded expert on MND care and research based at the University of Oxford who was filmed at one of our recent Spring Conferences.

In the short film, Prof Talbot says that “When research funding is cut, one of the consequences is that the adventurous, exciting research doesn’t get funded. The ‘safe’ research, which really confirms what we already know tends gets funded. I think there’s a loss of innovation and adventure and that’s a real concern for different diseases such as MND.”

Funding ‘safe’ science may seem like a logical step when faced with difficult financial decisions, but without exciting and pioneering research, we simply won’t make any clear strides toward our vision of a world free of MND. Luckily, we are in a unique position to cherry pick and fund the very best research wherever it’s based in the UK and the world, research which will kick start exciting new areas of exploration into MND.

Speaking to us earlier this year, Prof Talbot told us that he considers the Association instrumental in the development of MND care and research in the UK, with an international influence too. But he sees his relationship with the Association as not simply about receiving care and research funding grants but crucial to his sense of feeling part of a wider research community dedicated to MND. “It helps to keep me connected to the important issues raised by the disease.”

We can’t achieve our vision on our own and so collaboration is a key component to ensuring that there will be a bountiful future for MND research. To do this, we are identifying and pursuing ways in which the profile of MND research can be raised, either directly through investment in research, or indirectly through influencing and campaigning the Government, related medical research agencies and pharmaceutical companies.

It is only through collaboration that we can we truly ensure a rich and successful future for MND research in the UK.

See part-two of the MND special on ITV West Country Tonight

To find out about all of the exciting research projects we fund, please see our ‘research we fund’ section of our website.