The UK MND DNA Bank opens its doors to researchers around the world

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By 2011 the UK motor neurone disease (MND) DNA Bank had collected over 3,000 samples from people living with MND in the UK, their family members and healthy controls.

Several years since the first sample was taken, the MND Association can now proudly announce that the UK MND DNA Bank is ‘open for business’ to the worldwide MND research community.

The sun is leaving us, the nights are beginning to draw in and Christmas treats such as mince pies are beginning to fill the shops. MND researchers around the world, however, have been given an early Christmas present – the opening of the UK MND DNA Bank!

Freezer at BioBanking Solutions
Freezer at BioBanking Solutions

The story

At present, the cause of MND is thought to be a combination of subtle genetics, lifestyle and environmental factors. We know a small number of these genetic factors, but not all of them, thus the Association created the UK MND DNA Bank. Back in 2003, co-ordinated by the three MND care centres (King’s College London, Sheffield and Birmingham) a multicentre collaboration across the UK invited people living with MND to participate in a project, which hopes to answer the question: What causes MND?

People living with MND and their family members gave a blood sample, in which the DNA could then be extracted from. The UK MND DNA Bank not only stores the DNA of the individual at the time the sample was collected, but it also contains important clinical information, which can help researchers look at specific factors (eg age of diagnosis).

Once a blood sample was taken it was then sent to the University of Manchester, where the UK MND DNA Bank collection is managed by BioBanking Solutions. DNA was extracted from the blood and then stored until it is needed by an MND researcher.

The Team at Biobanking Solutions Team photo

An everlasting resource

You may be thinking surely there’s only a limited amount of DNA in a blood sample? What if researchers need more? Well, researchers only use the smallest amount of DNA in their experiments. However, if they were to use it all, the DNA is also stored somewhere else too!The white blood cells (sometimes known as lymphocytes) are stored at the European Collection of Cell Cultures (ECACC), which is part of Public Health England located at Porton Down in Wiltshire. Here, the white blood cells, which also contain DNA, were taken from the original blood sample and plunged into liquid nitrogen, which freezes the cells for storage.

If DNA samples run low at BioBanking Solutions, the stored white blood cells can be used to re-stock the DNA, which ensures that the DNA Bank is an everlasting resource. These white blood cells can also be used for research into how faulty genes cause damage to cells.

The UK MND DNA Bank will therefore be an essential tool for researchers trying to find out the cause of MND.

Current research
The UK MND DNA Bank samples are now available to international researchers but the MND centres involved in the original collection of the samples have already been using them to try and find out what causes MND?

Dr Johnathan Cooper-Knock
Dr Johnathan Cooper-Knock, MRC/MND Association Lady Edith Wolfson Clinical Research Fellow

Dr Johnathan Cooper-Knock from the Sheffield Institute for Translational Neuroscience (SITraN) is using the UK MND DNA Bank samples to study how recently discovered mistakes (known as mutations) in a gene called C9ORF72 can cause the disease.

Dr Cooper Knock explains, “I believe that the genetics of MND are a key to understanding both the cause of the disease and how to treat it. The discovery of mutations in C9ORF72 are a great opportunity to get a hold on mechanisms of disease which has so far been elusive.

“As a result of my research I hope to have identified a number of therapeutic targets for development into new treatments by myself and others.”

Prof Ammar Al-Chalabi at King’s College London has used the UK MND DNA Bank samples to look for so-called ‘good genes’ that slow down the progression of MND or delay the age of onset.

Prof Al-Chalabi said: “In a multinational research collaboration co-funded by the MND Association, we examined about 300,000 gene variations in 2,359 people with MND and 2,814 unaffected volunteers from six different countries. We were able to find a variation (a slight change) in a gene called KIFAP3 that was associated with better survival in MND.

“Since then we have been involved in other studies that have found another variation in a gene called UNC13A which also associates with better survival in MND. How the good genetic variations slow down MND is not clear. KIFAP3 is part of the skeleton of nerve cells, and we know that this is affected in MND. UNC13A is part of the rubbish disposal system for nerve cells and we also know that this can go wrong in MND.“We hope that by understanding how a gene variation leads to changes in its protein, and how this affects the body, we can make a treatment that forces the protein to behave like the ‘good’ version, and that this will help to slow down or stop MND, even for people who aren’t protected naturally by the ‘good’ gene variant.”

Prof Ammar Al-Chalabi, King’s College London

Thank you

In 2011 the UK MND DNA Bank stopped collecting samples, leaving us with a total of over 3,000 high quality samples to be used in future MND research!

We would like to thank all the people with MND and family members who participated in this project, as without you the UK MND DNA Bank would not be possible.

Dr Belinda Cupid, Head of Research at the Association said: “It’s a fantastic and high quality international research resource and exists thanks to people with MND, their families and the team of neurologists and nurses around the country who helped collect the samples. We’d also like to thank BioBanking Solutions, Public Health England, The Wellcome Trust and DeNDRoN for their involvement in the project.”

For more information see ‘What happened to my DNA Bank sample?’

Researchers wishing to access the samples
If you are an MND researcher wishing to access the UK MND DNA bank samples for research use you need to apply via the Association. Details can be found on our website (

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