Our DNA Bank: the times they are a changing..

DNABankLogoThis autumn sees an exciting new development in the MND Association’s DNA Bank. Researchers can now use the samples within it to understand why motor neurones die as well as what the triggers are for MND.

How the DNA Bank began

Beginning in 2003 and running until 2012, approximately 1,500 people with MND, 1,000 healthy ‘controls’ – often the partner or spouse of someone with MND – and a further 500 members of families affected by MND gave a blood sample to help researchers understand more about the genetic causes of MND.

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The importance of tissue in MND research

Courtesy of Dr Robin Highley, SITraN

Courtesy of Dr Robin Highley, SITraN

Dr Robin Highley from the Sheffield Institute of Translational Neuroscience (SITraN), which is based at the University of Sheffield, has written a special ‘guest blog’ about his research and the value of tissue donation.

I am a pathologist who recently completed a MND Association/Medical Research Council Lady Edith Wolfson fellowship.  During my research fellowship, a student and I spent many months using lasers to dissect out motor neurones from spinal cord, kindly donated by people who had died from motor neurone disease (MND).  Read the rest of this entry »

New inherited MND-causing gene identified – TUBA4A

An international team of researchers, led by MND Association-funded researchers based at King’s College London, have identified mistakes in the TUBA4A gene as a new cause of the rare inherited form of MND.

This new MND-causing gene causes the cell’s structure, or skeleton, to break down – resulting in the cell being unable to transport molecules from one end of the cell to the other.

TUBA4A falls off the track

The TUBA4A gene is responsible for the Tubulin, alpha 4A protein and the researchers have found that the genetic mistake in the TUBA4A gene causes the microtubule network to breakdown in MND.

The microtubule network is a bit like a railway system. Normally, the healthy TUBA4A protein acts like a train, allowing the cell to transport molecules along this railway track to where they’re needed. As well as transporting molecules around the cell, the microtubule also acts as a skeleton within it (known as the ‘cytoskeleton’). Read the rest of this entry »

The Institute of Neurology – a hidden gem for MND research

Queen’s Square in London, a green and calm space tucked behind the busy Russell Square, is known for the famous National Hospital for Neurology and Neurosurgery. One of the MND Association’s Care Centres is based at the National – providing important multidisciplinary team care for people with MND. However, in a concrete tower block, tucked in the corner of the Square is the Institute of Neurology, University College London (UCL). It’s a real gem of MND research activity, or in recent times you might say a beautiful crystal of ice! Read the rest of this entry »

Very ‘ice’ research

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)

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Toxic proteins may cause motor neurones to die in C9orf72 MND

MND Association and Alzheimer’s Research UK-funded researchers from University College London have identified that toxic proteins may cause motor neurones to die in C9orf72 MND and frontotemporal dementia. Published open access in the journal Science on Thursday 7 August, this research explains more about one of the most common forms of inherited MND.

The brain of a transgenic fruit fly Drosophila melanogaster, used to study neurodegenerative diseases, with cell nuclei (stained purple) and glial cells (green). Image courtesy of Teresa Niccoli, UCL Institute of Ageing, London, UK.

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From genes to the clinic: MND Association and ALS Association-funded researcher wins the ENCALS Young Investigator Award 2014

After attending the ENCALS meeting in May I was busy scheduling the ‘blog a day’ in June, which meant I didn’t get chance to actually report on any developments from the meeting. During our ‘blog a day’ we wrote a lot about genetics, in terms of the UK MND Whole Genome Sequencing project and the UK MND DNA bank. Therefore, I thought it would be a good opportunity to introduce a different area of genetic research and how it relates to what’s going on in the clinic.

The Award

During the European Network for a Cure of ALS (ENCALS) 2014 meeting (Leuven, Belgium 22 – 24 May 2014), Dr Ashley Jones, was awarded the Young Investigator Award.

It’s a highlight of the annual meeting, which showcases and recognises the work of the next generation of researchers in the field of MND, in this case, King’s College London-based Ashley.

But how does it feel to win such a prestigious award? Ashley said:

“Ammar phoned late Sunday evening, in a grave tone, and asked me if I was sitting down. I sat down, and began to worry. When he told me the news, I became inarticulate. I think there was some joyous laughter, and then I repeatedly asked him ‘really!?’”.

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

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