Using iPSCs to understand why motor neurones lose their normal function in MND

Researchers can create human motor neurones exhibiting signs of MND in the lab by taking skin cells from a person living with MND and reprogramming them into motor neurones. This is called induced pluripotent stem cell (iPSC) technology and gives an ‘in a dish’ human model of MND. iPSCs are being used by several of the researchers we fund.


Dr Gareth Miles

Dr Gareth Miles from the University of St Andrews, together with former PhD student Anna-Claire Devlin, has previously found that these ‘in a dish’ motor neurones lose their ability to produce an electrical nerve impulse. MND-affected motor neurones at first become overactive, and then subsequently lose their ability to produce the impulses needed to make muscles contract.

In his new project Dr Miles and PhD student Amit Chouhan, alongside Prof Siddharthan Chandran (University of Edinburgh), plans to use iPSCs to investigate why these electrical properties in nerve cells change in MND (our reference: 878-792).

The researchers will look at proteins called ‘ion channels’ that regulate the flow of electrical messages (called an action potential) which travel along the nerve cell towards the muscle. 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

Using DNA Bank samples to create iPSC models of MND

Induced pluripotent stem cell (iPSC) technology has enabled researchers to create and study living human motor neurones in the lab, derived originally from patient skin cells.

DNABankLogoThis project (our reference 80-970-797) is a collaboration between the labs of Professors Chris Shaw and Jack Price at King’s College in London and Siddharthan Chandran in Edinburgh. It aims to use the already collected white blood cell samples within the UK MND DNA Bank to create a larger number of new iPSC models of MND. Ultimately creating an MND iPSC cell bank, these models will enable researchers to better understand the disease and screen potential new drugs. Continue reading

On the sixth day of Christmas MND research gave to me: Blog a Day 2014

“On the sixth day of Christmas MND research gives to you… on the SIXTH month of 2014 we wrote a Blog a Day, and you can still read them all online today.”

Stem cell-derived human motor neurones are being used by researchers to understand more about MND (image courtesy of Dr Scaber, University of Oxford)

Stem cell-derived human motor neurones are being used by researchers to understand more about MND (image courtesy of Dr Scaber, University of Oxford)

The sixth month of the year is June, which is also MND Awareness month. During 2014 we brought you a blog a day (sometimes two) during the month of June,

Ranging from research updates to experiences of getting involved in research, we covered the variety of research funded by the Association and the work of the Research Development team.

Dr Jakub Scaber’s blog post on stem cells was the top-rated blog post of the month, with an impressive image of stem cell-derived motor neurones.

Click here to read all the Blog a Day posts

On the fourth day of Christmas MND research gave to me: a new stem cell research project

“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

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.

Click here to read more about the research that lead to us funding this project

A taste of Brussels…

Brussels 2014On 4 November, we welcomed two of our funded researchers to our offices in Northampton. Ruxandra Mutihac and Matt Gabel gave us a ‘taste’ of what’s to come for this year’s 25th International Symposium on ALS/MND, by speaking to us about their research.

The symposium is the World’s largest MND-specific research conference and is now only two weeks away! Continue reading

Human Motor Neurones

Dr Jakub Scaber is a Medical Research Council (MRC)/  MND Association Lady Edith Wolfson Clinical Research Fellow who works in Professor Kevin Talbot’s Laboratory at the Oxford University. Like Prof Chandran’s research, Dr Scaber’s fellowship is also investigating stem-cell derived motor neurones, here he blogs about his research.

jakub mn image

This is an image of motor neurons.

But not just any motor neurons – these are motor neurons that have been derived from skin cells of one of our patients who was a carrier of the most common mutation in the rare inherited form of MND (5-10% of total MND cases) – a mutation in the gene C9orf72. Continue reading

A stem cell route to the roots of MND

Nina Rzechorzek's article 'A window into brain disease is only skin deep" was shortlistedNina Rzechorzek is based at the University of Edinburgh. In 2012 Nina’s article on Prof Siddharthan Chandran’s research was shortlisted for the Access to Understanding Competition. Here she gives an update on his stem cell research.

It was a typical morning – trying to juggle experiments, trying not to make mistakes, trying hard to get results….sometimes life can be very ‘trying’ indeed… but then I’m not affected by motor neurone disease (MND) – and what a privilege it is for me to be able to rush around, to go to work and, hopefully one day, discover something that can make a difference.  I am reminded of this as I stumble out of the morning into a less ordinary afternoon – stepping away from the bench and into the world of my boss, Prof Siddharthan Chandran. Continue reading

A research perspective on the MND Association spring conferences

Following on from Peter Bickley, Dr Ruxandra Mutihac volunteered to present her research at the Newport Spring Conference earlier this year. Here she gives an insight in to her work at Oxford and her experience of the day.

OLYMPUS DIGITAL CAMERAThis April, I had the privilege of giving the research talk of the day at the MND spring conference in Newport, Wales. I was delighted to be given the opportunity to share with people living with MND and their carers the research I am doing at Oxford University on stem cell derived motor neurones. During the day I was completely taken aback by everyone’s interest and enthusiasm on the subject. Continue reading

Using induced pluripotent stem cells to further our understanding of MND

Dr Jakub Scaber from the University of Oxford is our newest Medical Research Council (MRC)/ MND Association Lady Edith Wolfson Clinical Research Fellow. He is investigating how the newly identified C9orf72 gene causes MND in some individuals using induced pluripotent stem (iPS) cell technology.

Courtesy of Prof Chandran's laboratory, University of Edinburgh

Courtesy of Prof Chandran’s laboratory, University of Edinburgh

Researchers funded by the Association were amongst the first to create human motor neurones from donor skin cells, mimicking the signs of MND. Today, the Association is committed to funding six research projects using iPS cell technology to further our understanding of MND. This includes the recently awarded fellowship to Dr Scaber. Read more about these projects here.

Dr Scaber will be using iPS cell technology to take skin cells from someone living with the rare inherited form of MND (5 – 10% total MND cases) caused by the C9orf72 mutation. Similar to Prof Chandran’s research at the University of Edinburgh, he will then make these cells ‘forget’ what they are and turn them into motor neurones. By studying these cells in detail he aims to find out how this mutation causes MND and whether or not gene therapy can be used as a potential treatment.

Continue reading