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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The UK Whole Genome Sequencing project

Dr Samantha Price is the Research Information Co-ordinator at the MND Association. As well as organising the ‘blog a day’ during MND Awareness Month she also communicates the latest news about MND research. Here she blogs about the MND Association’s announcement of the UK Whole Genome Sequencing project.

It’s been a brilliant Awareness Month with blogs about zebrafish research and streaking meerkats. To end on a positive research note, we’re delighted to announce that we are funding a UK Whole Genome Sequencing project to help us understand more about the causes of MND. Utilising samples from our own UK MND DNA bank; researchers in the UK will aim to sequence 1,500 genomes to help identify more of the genetic factors involved in the disease.  Read the rest of this entry »

Postcard from Australia

Emma Devenney at this year's symposium in Milan

Emma Devenney at last year’s symposium in Milan

Dr Emma Devenney is an MND Association and Neuroscience Research Australia funded PhD student investigating the Cerebellum in MND and Frontotemporal Dementia at Neuroscience Research Australia. She is finding out what role it plays in the symptoms of patients with the C9orf72 mutation. Here she blogs about her work from Australia!

Finally after more than 12 months of preparation and anticipation I touched down in Sydney to be greeted by a city in the throes of early summer. Sydney in the summer is the epitome of the Australian dream and it is easy to see how it has enticed many Irish and British immigrants to its shores. The blue skies, beautiful beaches and a lively cultural and social scene are amongst many of the cities attractions and distractions.

Neuroscience Research Australia is in the exuberant Eastern suburbs of Sydney; an area where the British and Irish expatriate communities have integrated well into Australian society and are as reliant on a daily ‘flat white’ as any self-respecting Australian. The research centre is located down the hill from the Prince of Wales hospital in the suburb of Randwick. Read the rest of this entry »

Waste disposal in MND

Dr Rob Layfield’s research at the University of Nottingham is funded by the MND Association. His research aims to investigate the cells waste disposal system, which could lead to new ways in how doctors manage the symptoms of the disease.

MND Association-funded researcher Alice Goode using NMR to investigate the structure of a mutant p62 protein.

MND Association-funded researcher Alice Goode using NMR to investigate the structure of a mutant
p62 protein.

Our work focuses on the effects of SQSTM1 mutations on the structure of the protein it encodes, p62. We are also testing the idea that MND-mutant p62 is defective at mediating protein degradation via autophagy (the cells waste disposal system). Read the rest of this entry »

Visualising FUS

Prof Vladimir Buchman (Cardiff University) was awarded funding by the MND Association for his research into the fused-in-sarcoma (FUS) protein. Dr Tatyana Shelkovnikova began the project in April 2014. Find out more here.

“For the MND Association’s blog a day we have this very nice (we think it is nice!) collage illustrating how FUS aggregates (green) gradually develop in cultured cells expressing a mutant form of this protein -enjoy the image!”

fus image

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Streaking Meerkats

In April 2014 over 30 runners from the Sheffield Institute for Translational Neuroscience (SITraN) took part in the Sheffield half marathon. The team consisted of researchers and family members (one of which had even travelled all the way from Australia to take part!). Association-funded researcher, Dr Emily Goodall, blogs about the Streaking Meerkats running team’s half marathon challenge.

A unique running team

I took up running for the usual reasons, to increase fitness, lose a bit of weight and boost energy levels. Running was the ideal exercise for a hectic lifestyle, just grab a pair of trainers and get going! I joined a very friendly running group where I met Tracy, a motivational fitness instructor with a ‘can do’ attitude. So far, so normal.

Then a crazy idea began to germinate, why not set myself a real challenge – running a half marathon with less than a years’ worth of training. This developed into – why do this alone, a team has greater power to raise money and awareness. Add a catchy team name to attract attention and the Streaking Meerkats were born!

Mo at streaking meerkat bootcamp with Monty, local mascot for “not the full monty” fun run team!

Mo at streaking meerkat bootcamp with Monty, local mascot for “not the full monty” fun run team!

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