A team at the Sheffield Institute for Translational Neuroscience are creating a zebrafish model to study the C9orf72 gene mutation in MND, and work out its role in the brain and spinal cord (our reference 864-792).
Zebrafish are a good way of modelling what happens in human MND. We know that many of the genes linked to causing MND in humans are also found in zebrafish. For example, changes to a gene called SOD-1 in humans are linked to about 20% of all cases of inherited MND, and when you genetically change the same gene in zebrafish they develop symptoms similar to MND.
A faulty or changed C9orf72 gene is associated with about 40% of all cases of the inherited form of MND. This change (or mutation) is also found in people with a form of dementia called frontotemporal dementia (FTD). FTD can alter abilities in decision-making and behaviour.Read More »
We know that neck weakness can be a difficult symptom to manage in people with MND, and that the current offering of neck collars and supports do not always suit everyone. In order to come up with a solution to this, we are funding Dr Chris McDermott from the Sheffield Institute for Translational Neuroscience (SITraN) to develop a new type of neck support for people with MND (our reference: 928-794).
Designers, health professionals and engineers, along with people with MND, have developed a new support called the Sheffield Support Snood. The Snood is an adaptable neck collar, which can be modified to offer support where the wearer requires it most.
The Snood was initially tested in 26 people living with MND in 2014. The current stage of the project, called the Heads Up project, will evaluate the Snood in around 150 people. This will contribute towards providing the necessary wider consumer testing of the Snood, which in turn will help when looking for a commercial partner to take on the manufacture of this product.Read More »
Janine Kirby is a Non-Clinical Reader in Neurogenetics and is celebrating 20 years in motor neurone disease (MND) research this month. Here she tells us more about how she got into the field, her current projects, what it’s like to work at Sheffield Institute for Translational Neuroscience (SITraN) and to meet families affected by MND.
How and why did you get into MND research?
Having completed my PhD at University College London, I wanted to apply my knowledge of genetics to medical research. I subsequently joined the MND Research Group at the University of Newcastle-upon-Tyne, headed by Prof Pamela Shaw, looking at the frequency of genetic changes in the SOD1 gene in MND patients from the North East of England.
Since then, firstly at Newcastle and then at the University of Sheffield, I have provided genetic input to the research strategy of investigating the molecular basis of this complex genetic disorder. I am now a Reader in Neurogenetics at SITraN working not only on the genetics of MND but also using a method termed transcriptomics (basically which genes are being switched on or off, and by how much) to discover biomarkers for the disease and to understand why the motor neurones are dying.
20 years later I’m still here because it’s incredibly challenging and interesting research, with the opportunity to work with great colleagues and collaborators across the world.Read More »
Update (February 2017): All sites are now closed and not recruiting for participants.
If you would like to be added to a waiting list for the Sheffield Support Snood, please contact Lise Sproson.
We are funding, together with the NIHR i4i (National Institute for Heath Research invention for innovation) programme, a research team in Sheffield who have developed a new type of neck support for people living with neck muscle weakness as a result of a neurological condition.
Designers, clinicians and engineers from University of Sheffield, Sheffield Hallam University, Devices for Dignity, Sheffield Teaching Hospital, Barnsley Hospital, and the Sheffield MND Research Advisory Group have worked together with people living with MND to develop the Sheffield Support Snood through an iterative design process.
The results from a small pilot study of the snood were presented at the International Symposium on ALS/MND in Brussels last year, where we reported on it.
Next step – the 100 collars project
In September we attended the Sheffield Support Snood training day, run by Devices for Dignity, Sheffield Teaching Hospitals NHS Foundation Trust, and Dr. Christopher McDermott, a Clinician Scientist at the Sheffield Institute for Translational Neuroscience (SITraN) who is the Chief Investigator for the project .Read More »
Professor Winston Hide gave his inaugural lecture on 17 March, during Brain Awareness week, entitled ‘breaking the human genome code – opening Pandora’s box’, which you can watch in full at the end of this blog post.
Professor Hide recently joined the University of Sheffield, and MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock has written a blog below about Professor Hide’s research and how they are working together towards a world free from MND: Read More »
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.
As well as helping out with our ‘blog a day’ during MND Awareness Month, we also asked our researchers to get involved in ‘baking’ to become our first ‘MND Researchers Bake off Champion’. We received some great science-themed cakes, from zebrafish biscuits to a Nuclear Magnetic Resonance(NMR) machine cake!
Our Director of Research, Dr Brain Dickie said: “It was really tough to judge, they were all great entries! (might need to taste next year though…!). Of the seven entrants there was one that I think wins by a short head, scoring on appearance, originality and relevance to MND research, with an extra mark for sheer wackiness – the ribosome translating a C9orf72 repeat expansion cake!”
The winning cake was by Jenn Dodd, a PhD student at the Sheffield Institute for Translational Neuroscience (SITraN)! Here Jenn describes her cake and how it feels to be the MND Researchers Bake off Champion!
The winner’s speech:
I decided to bake the cake, as at SITraN we have a weekly cake club and it was my turn to bake in June. I thought entering the competition would be a good way to get involved in MND awareness month and thought it would make cake club a bit different!
Small structural units called cells make up the human body. They convert food and oxygen into energy to produce chemically reactive machines and building blocks called proteins. There are thousands of different proteins made and so special templates called RNA are sent to a protein-making factory in cells called the ribosome. The ribosome makes proteins from the RNA templates in a process called translation (Read more about how cells make proteins here).
The cake shows a ribosome (yellow) translating RNA (the stripey sweets) to make a protein (the flying saucer chains). The protein that is being made is C9ORF72, a protein with an unknown function that is involved in some cases of MND.
I’d like to say thank you and I am really please to have won the bake off with my cake experiment!
A number of articles were published in various news sources on 11 July 2014, highlighting how scientists in Sheffield are working towards testing a promising treatment for a rare inherited form of MND caused by the SOD1 gene. Here we write about the research and what it means for people living with MND.
The Sheffield Institute for Translational Neuroscience (SITraN) specialises in research into MND and other neurodegenerative diseases. Recently the institute received an anonymous donation of £2.2 million to help translate their research from the lab to the clinic. This is a huge amount of money into MND research and this donation will enable the researchers to further our understanding of the disease.
We know that approximately 10% of cases of MND are inherited. This means that they are characterised by a strong family history and the disease is caused directly by a mistake in a specific gene. Of these 10% of cases, 2% are caused by the SOD1 gene (meaning that for every 100 cases of MND, 10 cases are inherited and of these, only 2 are directly caused by the faulty SOD1 gene).
Prof Mimoun Azzouz’s research at SITraN was reported in a number of news outlets, highlighting how his research is paving the way to a treatment for a rare form of MND. His research is at a relatively early stage, where he has only just begun investigating the use of a technique known as ‘gene therapy’ in mice affected by the SOD1 inherited form of MND. If the research goes to plan, he will be able to submit a proposal for regulatory approval by August 2015.Read More »
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 More »
Medical Research Council (MRC)/ MND Association Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock, is based at the Sheffield Institute for Translational Neuroscience (SITraN), at the University of Sheffield. The Tour de France ends up in Sheffield a week today, so to get you into the cycling spirit, John blogs about the Sheffield to Leuven ENCALS cycling challenge!
The great idea
A few weeks ago Richard Mead and I had a chat in the lab. We wondered whether it would be possible to cycle to Leuven for the forthcoming European Network for a Cure of ALS (ENCALS) conference (22 – 24 May 2014). Well of course it would be possible, but given finite resources, time and training could we do it? When we discovered the overnight ferry from Hull to Zeerbrugge (which we were reliably informed only resulted in sea-sickness 60% of the time) we realised the dream could become a reality. Read More »