About Research Development Team

We are the research development team at the Motor Neurone Disease Association in the UK

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.

Arpan is a neurology registrar in Oxford, who is taking time out from his clinical training to undertake his PhD in Edinburgh.  His project, supervised by Professors Siddharthan Chandran and Giles Hardingham at The University of Edinburgh, examines the most common known genetic mutation in motor neurone disease (MND), the C9orf72 mutation.  Arpan will exploit the recent advances in patient-derived stem cell modelling and gene editing to better understand the molecular mechanisms underlying MND.

Each motor neurone has both a cell body and neurites.  The latter are specialised projections, the longest of which are called axons that make physical and electrical contact with neighbouring cells.  Arpan’s project, focused on understanding the reasons behind changes to the axon in MND, is stimulated by encouraging data from animal models of MND, showing that targeting the axon leads to delayed onset of disease and prolonged survival.  Patient-derived stem cell modelling provides an ideal platform for Arpan’s project.

Dr Arpan mehtaArpan said: “I am extremely grateful and honoured to have been awarded this generous fellowship, enabling me to undertake research using the latest technologies in such a vibrant regenerative neuroscience environment that is in Edinburgh.

“I look forward to sharing the details of my PhD journey with the MND Association community as time progresses!”

Arpan’s research in Edinburgh will benefit from the closely linked clinical and laboratory research networks of the Anne Rowling Regenerative Neurology Clinic, Euan MacDonald Centre for MND Research and the UK Dementia Research Institute at The University of Edinburgh.

New ALS review article available

ammar2.jpgLast week, The New England Journal of Medicine (NEJM) published a review article by Professors Ammar Al-Chalabi and Robert Brown, in which they looked at the up to date evidence on the incidence of ALS, pathological mechanisms of the disease, as well as genetics and therapeutic strategies.

We would very much like to thank the NEJM who kindly allowed us to share full text of this article on our website – this is now available to view here.

Epi Epi Epi, Oi Oi Oi

Mention the word Epidemiology and instantly my mind conjures up the Centre for Disease Control (CDC) in America being swarmed by zombies or men in bright orange astronaut-type suits in The Crazies.  While it’s true that it includes studying highly infectious diseases and how they spread (zombies and end of world scenarios aside!), it can be applied to any disease.

Having spent much of my time in the last year working on the data that was collected from our recent epidemiology study, I was keen to shout about the fact that the data is now ready for researchers to use. The analysis of this data will add great value to samples that we already have in our DNA Bank.

What is Epidemiology?

Continue reading

Using surface EMG to see if fasciculations can be used as a biomarker for MND

What are fasciculations?

When motor neurones in the spinal cord become damaged this makes them electrically unstable, meaning they spontaneously discharge electrical impulses that cause small groups of muscles to contract. These contractions, known as fasciculations, are a common symptom of MND. Research suggests that they might be a good marker of motor neurone health.

Tracking fasciculations with surface EMG

Prof Chris Shaw

Prof Chris Shaw

Led by researchers Prof Chris Shaw and Prof Kerry Mills, Dr James Bashford is using technology called surface EMG to collect data on the site and frequency of fasciculations in different muscles in people with MND. Fasciculations in people with MND are different to benign fasciculations, which can occur in people without the disease and are generally harmless. James and the team hope to show that fasciculations in those with MND have a unique ‘fingerprint’ which can be accurately identified and tracked.

Data collected will be compared to other information currently used to track the progression of MND. James and the team hope surface EMG might provide a more sensitive way of measuring disease progression than previously used methods. This one year feasibility study is being carried out at King’s College London at a cost of £95,000 (our reference: 932-794). Continue reading

Investigating miRNAs as a biomarker for MND

There is a critical need to find a biomarker for MND to speed up diagnosis, monitor disease progression and improve clinical trials. A biomarker is a biological change that can be detected in a person to signal that they have MND, and that can be measured over time to monitor how the disease is progressing.

Previous research has suggested micro RNAs (miRNAs) present in the blood might be a biomarker for MND. miRNAs are short forms of RNA, the cell’s copy of our genetic material DNA. They are stable in the blood, can be easily measured with a blood test, and evidence suggests that they are linked to MND progression. To put it simply, if the biomarker hunt was a music festival, miRNAs would be a headlining act that a lot of people are excited about! Continue reading

Protecting motor neurones against oxidative stress in MND

During the early stages of MND it is proposed that motor neurones are more susceptible to an imbalance of oxygen within the cells, known as oxidative stress. Prof Dame Kay Davies, at the University of Oxford, has previously shown that increasing the levels of the gene Oxr1 can protect motor neurones from death caused by oxidative stress and delay MND in mice. You can read about this work here. Continue reading

Preventing TDP-43 deposits in motor neurones

Deposits of the protein TDP-43 are found within the motor neurones in the majority of cases of MND, and are considered a pathological hallmark of the disease. While we do not fully understand how these deposits are formed, previous research has shown that activation of a process called the Unfolded Protein Response (UPR) can cause TDP-43 protein to deposit in the motor neurones. 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

Using fruit flies to understand a genetic cause of MND

Mistakes in a gene known as ALS5, or spatacsin, cause a rare form of inherited MND that develops at a much earlier age than most other forms of the disease. Under supervision from Dr Cahir O’Kane, MND Association funded PhD student Alex Patto has been using fruit flies to understand how mistakes in spatacsin cause MND (our grant reference 861-792).

Prior to this research, which is based at the Department of Genetics at the University of Cambridge, nothing was known about how faulty spatacsin leads to motor neurone degeneration. Three and a half year years on, this research has shed light on this important question.

What did they find?

By conducting tests in the fruit flies, Alex has found that the spatacsin protein has a role in cell recycling (also known as autophagy), a process which keeps cells healthy. When the spatacsin protein is faulty it leads to disrupted cell recycling and abnormal levels of another protein called Rab7, which might contribute to MND development. Continue reading

Janine Kirby: My 20 years in MND research

Janine Kirby is a Non-Clinical Reader in Neurogenetics and is celebrating 20 years in motor neurone disease (MND) research this month. Here she tells us more about how she got into the field, her current projects, what it’s like to work at Sheffield Institute for Translational Neuroscience (SITraN) and to meet families affected by MND.

Dr Janine Kirby

Dr Janine Kirby

How and why did you get into MND research?

Having completed my PhD at University College London, I wanted to apply my knowledge of genetics to medical research. I subsequently joined the MND Research Group at the University of Newcastle-upon-Tyne, headed by Prof Pamela Shaw, looking at the frequency of genetic changes in the SOD1 gene in MND patients from the North East of England.

Since then, firstly at Newcastle and then at the University of Sheffield, I have provided genetic input to the research strategy of investigating the molecular basis of this complex genetic disorder. I am now a Reader in Neurogenetics at SITraN working not only on the genetics of MND but also using a method termed transcriptomics (basically which genes are being switched on or off, and by how much) to discover biomarkers for the disease and to understand why the motor neurones are dying.

20 years later I’m still here because it’s incredibly challenging and interesting research, with the opportunity to work with great colleagues and collaborators across the world. Continue reading