Very ‘ice’ research

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The ALS #icebucketchallenge, which started in America, has now well and truly hit the UK! The social media craze has seen thousands of people getting involved in raising awareness of ‘ALS’( the most common form of MND), and funds for the Association, by placing a bucket of ice-cold water over their heads. But what happens to the donations?

The #icebucketchallenge has raised awareness of MND and has got people asking ‘what is ALS/MND?’ The donations raised will enable us to support people with MND and fund vital research. We thought we would share with you some of our ‘coolest’ research this bank holiday weekend, which the #icebucketchallenge is helping to fund:

The UK MND DNA bank (link to previous blog) freezers store DNA at a rather chilly -80°C! Now, that’s a lot colder than any #icebucketchallenge (image courtesy of CIGMR Biobank)
The UK MND DNA bank freezers store DNA at a rather chilly -80°C! Now, that’s a lot colder than any #icebucketchallenge (image courtesy of CIGMR Biobank)

Finding the causes of MND

We still do not know the cause of the majority of cases of MND.

The UK Whole Genome Sequencing project will use DNA in our UK MND DNA bank to find out more about the causes of MND. By sequencing 1,500 genomes (the entire DNA of these samples) our researchers will be able to identify more of the genetic factors involved in the disease. Find out more here.

Looking for biomarkers – a diagnostic test

There is currently no diagnostic test for MND and our research aims to find a marker of disease progression to speed up diagnosis, prognosis and disease monitoring for people living with MND.

Dr Andrea Malaspina, based at Queen Mary’s University of London (QMUL), is trying to change this. He is looking for changes in the blood and urine that can be used to diagnose MND and monitor its progression. However, finding biomarkers is not as easy as it sounds, as he explains in his guest blog.

Models of MND – stem cells

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

In order for us to understand more about MND, and test potential treatments, we need a ‘model’. Researchers like Dr Jakub Scaber are using a new cutting-edge approach.

By using donated skin cells from someone with MND, he has managed to ‘turn back the clock’ and turn them into stem cells! After a bit of guidance these stem cells can be turned into human motor neurones; enabling Dr Scaber to study the effects of MND and test potential treatments. Find out more about his research here.

The importance of MND research

Alun Owen is an Association trustee (our Chair elect) who, as well as taking on the #icebucketchallenge, has had personal experience of MND. After attending one of the Association Spring Conferences and hearing the research presentation, Alun was fascinated at how complex MND is.

Alun said: “It is a bitter-sweet feeling for anyone who has lost someone to MND but our research programme is strong. Over recent years due to advances in genetic technology we now know over two-thirds of the causes of the rare inherited forms of MND.

As a trustee and soon-to-be Chair of the Association, I know that we will make a difference and eventually find a cure – achieving the Association’s vision of ‘A world free from MND’.” Read more about Alun and his role here.

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