What’s happening in MND Research
Autumn 2016 – online edition
Our ‘What’s happening in MND Research’ quarterly newsletter brings you
closer to the research we fund, opportunities to get involved in research and
news from conferences around the world.
More MND research is being carried out today than ever before and the
number of research papers published is increasing year upon year.
Contents:
Page
Association research projects update
2
Latest MND research news
3
Get involved in research
4
Research conferences
5
Page 1 of 6
Association Research projects update
The Association funds and promotes research that leads to new understanding and
treatments, and brings us closer to a cure for MND. Below we focus on a selection of the
research projects we fund.
Find out more in our Research Information Sheet E: Research we fund.
Most PhD studentships start their funding in the Autumn so we’ve chosen to feature
two MND Association funded PhD studentships in this newsletter. Both started this
month.
Regulation of intracellular traffic by TBK1 and its relevance to MND
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Prof Giampietro (Gipi) Schiavo and Dr Pietro Fratta
Institute of Neurology, University College London
£92,842 (PhD studentship) over three years
Completion date: September 2019
Our ref: 880-792
Summary of the project
Motor neurones are long cells running from the spinal cord out to the muscles. Their function
is to transmit messages from the spinal cord to the muscles to cause a muscle contraction.
Motor neurones need to keep themselves in working order to transmit these messages. To
do this they have an internal transport system ensuring that they have any maintenance
materials, fuel and nutrients in the right place at the right time along the cell. This research
will investigate how a protein called Rab7, involved in organising motor neurone transport is
affected in MND. Specifically it is thought that faults in a protein called TBK1, known to
malfunction in MND have an indirect effect on the correct function of Rab7.
Glycosphingolipid dysregulation and lysosomal dysfunction in amyotrophic lateral
sclerosis
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Prof Frances Platt and Dr David Priestman
Department of Pharmacology, University of Oxford
£96,252 (PhD studentship) over three years
Completion date: September 2019
Our ref: 833-792
Summary of the project
Recycling of proteins, lipids and other cell materials is an important part of normal
processing in all cells in our body. If these materials are not correctly recycled they can
accumulate and cause problems for the cells. Cells have two recycling methods that work
alongside each other. One of them is known as the ‘ubiquitin proteasome system’ or UPS
and the other is the lysosome-autophagy pathway. The grantees have found the
accumulation of a cell material called ‘glycosphingolipid’ in lab models of MND. As
glycosphingolipid is usually broken down by the lysosome recycling method, one reason for
its accumulation maybe the faulty lysosome system itself. In this project the researchers will
build more evidence for how and whether glycosphingolipids accumulation does occur in
MND and work out why this is happening.
Page 2 of 6
Latest MND Research news
We communicate the latest MND research news on our website, MND Research blog, twitter
account and through our members’ magazine Thumb Print.
This issue we’ve focussed on research news about projects that we fund – a project that’s just
started and one that has been running for a year. If you would like us to send you paper copies
of these articles in the post, please contact the Research Development team (see back page
for details).
New clinical fellowship set to look at role of muscle twitching in MND
In August, neurologist Dr James Bashford was awarded a Medical Research Council / MND
Association Lady Edith Wolfson Fellowship. In this three year fellowship, based at King’s
College London he will look at muscle twitching or fasciculation. Although muscle twitching is
a common feature of MND, the role that it plays in the disease is not well understood. One of
the reasons for the lack of knowledge is the way that muscle twitching is measured. Most of
the time this is done by placing a needle into the muscle and measuring the electrical
activity, called electromyography (EMG). This can be invasive and painful.
Instead, Dr Bashford is using a technique that can measure the electrical activity of the
muscle by placing sensors on the skin – surface EMG. He will be working with bioengineers
and electrophysiologists on the design of the new sensors for the surface EMG ‘patch’. The
team will also ensure that its possible to get a reproducible read out and the format of the
read out can easily be stored.
“Ultimately, we hope to incorporate the electrodes into a wearable garment that could prove
a valuable clinical tool, which can be used to help test potential new therapies. After all,
that’s what really counts for patients and their families.” explained Dr Bashford.
Using stem cell technology to understand more about how MND and FTD develop
Grantees of all of the research projects that we fund are required to send us an annual
report on their progress. Their report is reviewed by members of the team and by our
independent Biomedical Research Advisory Panel (BRAP). The reports are also used to
explain to donors how their funds have been invested.
We’ve recently received a first year progress report on a research project underway at the
University of Oxford. The work has been carried out by Dr Ruxandra Dafinca in Professor
Kevin Talbot’s lab. Using induced pluripotent stem cell technology to create human motor
neurones in the lab, they are looking at the combined toxicity of a malfunction in a gene
called ‘C9orf72’ and commonly seen deposits of a protein called ‘TDP43’. Their work is
going well.
You can read more about both of these research stories in articles on our research
blog.
Page 3 of 6
Get involved in research
There are a number of ways to get involved in MND research, from tissue donation to
questionnaire-based studies.
Several projects that you might be able to get involved with are detailed below. An up to date
list is available by contacting the Research Development team (see back page for details), or
via the ‘get involved in research’ section on our website. Opportunities are also featured on
our research blog.
Could psychological therapy be helpful in MND?
We know that some people with MND experience anxiety and depression.
Psychologist Rachel Dodd based at the University of Liverpool is looking to
understand the cause of these feelings, as part of her PhD research. The results of
her research will help us understand whether a psychological therapy might help with
the symptoms. She’s looking for people with MND to complete some online
questionnaires about how they are feeling. So far people have taken 8-25 minutes to
complete the questionnaires (if you have difficulties using a computer, they make
take up to 40 minutes).
There is a page on our website to find out more about this research, with a link to the
online questionnaires.
Biomarker research
We are funding a number of research studies aiming to find better ways to diagnose
MND and more accurately monitor disease progression. This way of measuring MND
will be a vital part of clinical trials in the future. Researchers at in London and Oxford
are looking for people to donate samples in two separate research studies.
Biomarker study in London: Dr Andrea Malaspina based jointly at UCL and Queen
Mary’s College, University of London is looking for participants with MND to give a
blood sample every three months.
Biomarker study in Oxford: Professor Martin Turner is looking for volunteers who
have a family history of MND (but don’t have MND themselves) to visit the John
Radcliffe Hospital on a regular basis to undergo two types of brain scan, answer
some questionnaires and give a blood sample.
Both Dr Malaspina and Prof Turner are involved in the recently announced
AMBRoSIA research study. When AMBRoSIA starts looking for volunteers we will
include more information here, on our website and our research blog.
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Page 4 of 6
Research conferences
The key to defeating MND lies in fostering strong collaborations between leading researchers
around the world, and sharing new understanding of the disease as rapidly as possible. This
issue give you an update on the International Symposium and re-cap on the regional and
annual conferences this year.
27th International Symposium on ALS/MND
The Association organises the biggest international research conference dedicated
to MND/ALS research in the world. Known as the International Symposium on
ALS/MND, it is held in December every year at different venues around the world.
The aim of the conference is to allow researchers and clinicians to foster and
maintain strong collaborations with their colleagues around the world, and to
promote the sharing of new understanding of the disease as rapidly as possible.
Plans for the logistics of this year’s conference in Dublin are progressing well. In May
we had a record-breaking submission of researchers wanting to present their work.
The summaries of all 591 presentations that will be given at the meeting will be
online in the next few weeks. The number of people in attendance also looks set to
be record-breaking!
People with MND can catch up with events from the conference between 7- 9
December by visiting the ‘Symposium live’ page on our website:
www.mndassociation.org/symposiumlive . We and many other people attending the
conference will be tweeting. You can find the comments by searching for “#alssymp”
on Twitter (www.twitter.com/mndresearch).
Watch our Annual conference and Regional Conference research talks online
Closer to home you can catch up with world-leading MND Association
researchers giving an overview of their research in a non-technical way by rewatching presentations from our annual conference and regional conferences.
These are available on our webstreaming website
Research presentation from Annual Conference
Research presentation from Crewe
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Contact details
If you have any questions about MND research, or would like hard copies of
any of the articles found in this newsletter, please do not hesitate to contact
the Research Development team on 01604 611 880 or
[email protected]
Alternatively, you can contact our MND Connect helpline for information and
support on 0808 8026262 or [email protected]
The helpline is open 9am to 5pm and 7pm to 10.30pm Monday to Friday.
We would gratefully appreciate your feedback on the ‘What’s happening in
MND Research newsletter via our short survey. Your views and comments
will help us improve the content of future editions of the newsletter.
Autumn 2016 – online edition
If you would like to view previous copies of the newsletter please contact the Research Development
team or visit our website.
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