How is tissue donation helping us to solve the MND puzzle?

Each year, the MND Association dedicates the month of June to raising MND awareness. This year, we focus on the eyes – in most people with MND the only part of their body they can still move and the only way left for them to communicate. Alongside the Association-wide campaign, the Research Development team selected six most-enquired about topics, which we will address through six dedicated blogs.

Last year, I wrote about our trip to a brain bank. Here, we learned about how people can arrange to donate their tissue (brain and spinal cord) to tissue banks after they die, and how it is stored and used in MND research all around the UK.

What you might be asking is: what can tissue actually tell us about MND, and how will this help us find new treatments?

To find new drugs that can beat this disease we first need to understand what is going on in the brain, which is very difficult to study in living people. This is why post-mortem tissue from people with MND is an invaluable resource. Below are four reasons why tissue donation is so important. Continue reading

Our Visit to a Brain Bank

Brain banks are a vital resource in MND research. The MRC London Neurodegenerative Diseases Brain Bank was established in 1989. It is part of King’s College London and King’s College Hospital, and is part-funded by the Medical Research Council (MRC).

The new brain bank building at King's

The new brain bank building at King’s

After 18 months of planning, the bank has recently relocated into a bright terracotta building, fit with state-of-the-art equipment and plenty of space to teach in.

To celebrate the move, my research team colleague Martina and I attended their open day. We heard some interesting talks then got to meet the team, tour the labs, and even see a brain dissection! Here’s what we found out… Continue reading

On the tenth day of Christmas MND research gave to me: Ten research studies we helped promote in 2014

“On the tenth day of Christmas MND research gives to you… TEN research studies we helped promote and recruit for in 2014”

IMG_2041Last year we helped promote and recruit people living with MND to take part in 10 different studies.

From biomarker studies, to survey’s on the risks v benefits of new medicines, we covered a number of different opportunities for people living with MND to get involved in research!

The TONiC study and the ALS biomarker study are still recruiting and tissue donation is open all year round! To stay up to date on the latest opportunities to get involved in research you can visit our website or subscribe to our research specific newsletter.

Alternatively, if you are living with MND you can join our MND Research list. Should a research opportunity become available in your area we will then contact you with details, including how to take part. Find out more.

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).  Continue reading

Brain Awareness week

Every March, Brain Awareness Week (11 – 17 March 2013) unites people of all ages worldwide to raise awareness of brain research. There are 45 free events across the UK, including seminars and school visits.

On the evening of the 11 March Belinda attended the free award ceremony for the winner of the Europe PubMed Central-led science writing competition ‘Access to understanding’, which included a large number of entries on an MND paper.

On the 13 March University College London (UCL) will be running a free public symposia on ‘Degenerating Brains’. As well as talks on Alzheimer’s and Parkinson’s disease, Prof Chris Shaw (King’s College London) will be speaking about MND. Due to the popularity of this event it is now fully booked.

Our Brain Research

Dr Martin Turner
Dr Martin Turner

Dr Martin Turner’s BioMOx project MND Association funded researcher Dr Martin Turner at the University of Oxford has identified a pattern of degeneration in the brains of people with MND that is linked to the level of disability.

Continuing and expanding  BioMOx Dr Martin Turner has also been awarded his second MRC/MND Association Lady Edith Wolfson Clinical Research Fellowship to carry on his BioMOx project which is to begin in August 2013.

Dr Turner will be broadening the BioMOx project to include people identified as being at risk of developing MND from families with a history of the disease but who are not yet showing symptoms.

Dr Ramesh Tennore

Dr Ramesh Tennore

Dr Tennore Ramesh’s interneuron findings A recent study by Association funded researcher Dr Tennore Ramesh from the Sheffield Institute for Translational Neuroscience (SITraN) has shown that even before the symptoms of MND occur, at the earliest stages of the disease, ‘connector neurones’ known as interneurons are already becoming damaged in the zebrafish.

Prof Mara Cercignani’s MRI scans project Starting in October 2013 Prof Mara Cercignan’s Association funded PhD studentship will use brain magnetic resonance imaging (MRI) scans that have already been obtained from many studies at King’s College London over the past 16 years.

This project will apply new ideas in medical computing to old data in order to identify how MRI changes in the brains of people with MND evolve. This will then enable the development of a new method to ‘stage’ MND progression so that brain abnormalities can be detected earlier.

Tissue Donation and MND

Tissue donation is a generous gift that can make a vital contribution towards MND research. Researchers investigating MND are particularly interested in the whole of the brain and spinal cord tissue, otherwise known as the central nervous system (CNS).

A brain and spinal cord tissue donation is made from either a healthy individual or somebody with MND after their death. To find out more information about tissue donation please see our information sheet on our website.

Raise Awareness of MND

I Am Breathing

I Am Breathing

Our 2013 Awareness Month campaign is focussed around a film called I Am Breathing. The hard-hitting documentary tells the story of Neil Platt, who was diagnosed with MND just after his son, Oscar, was born.

Neil wanted to leave a legacy for Oscar and also raise awareness of MND. We hope that thousands of people will see the film on or after a special Global Screening Day, Friday 21 June, Global MND Awareness Day.The Association has joined forces with the film makers, the Scottish Documentary Institute, and with Neil’s family to make sure this powerful story is shared as widely as possible when the film is released during the Awareness Month in June 2013.

You can help fulfil Neil’s goal of raising awareness by hosting your own screening of I Am Breathing on 21 June 2013 – MND Global Awareness Day.

Brain and spinal cord donations provide a timeless legacy to MND research

Tissue donation has played a vital role in many important MND research findings. Without the generosity of individuals who decide to donate their brains and spinal cords to MND research, many of the recent advances wouldn’t have happened or at the very least, the relevance of the findings wouldn’t have been known!

In recent years, tissue donations from patients with the randomly occurring ‘sporadic’ form of MND that account for approximately 90% of cases of MND, and tissue donations from patients with the inherited form, have played an essential role in recent advances.

Timeless legacy
The most recent example of the impact that brain and spinal cord donation has played in MND research is the finding that a gene called VCP causes an inherited form of MND. But what do genetic studies have to do with tissue donation? In order to demonstrate that a mistake in a gene can cause MND, it is important to show the ‘effect’ that the gene mistake had in the body.

In the case of the VCP finding, a brain sample was donated by a patient with MND in the 1970s who had a form of inherited MND. The patient’s descendants then went on to be involved in the study where mistakes in the VCP gene were identified. Even though the brain sample was over thirty years old and had already been used once, the researchers were able to re-use it. By re-staining the sample, the research group were able to show that a protein called TDP-43 accumulates in motor neurones when the VCP gene is faulty.

This is an important finding as it provides further evidence that TDP-43 plays a pivotal role in the development of MND. Without that brain donation back in the 1970s, this finding wouldn’t have happened and we wouldn’t know about the strong link between VCP and TDP-43.

Discovering the importance of TDP-43 through tissue donation
Tissue donated by people with sporadic MND is also playing a vital role in better understanding the role that TDP-43 has in MND. Without people donating brain and spinal cord samples, we wouldn’t know that TDP-43 clumps together in about 90% of cases of MND.

We simply wouldn’t know how important TDP-43 is to MND.

Spot the difference
Having tissue from patients with MND is important, but so is having healthy samples to compare them with. Being able to ‘spot the difference’ between MND and healthy controls is as important as having the patient samples in the first place. Without these samples, it would be like trying to ‘spot the difference’ in one picture.

Make a difference
Tissue donation contributes to groundbreaking MND research leaving a lasting legacy to push our understanding of MND to a new level. It only takes one person to make a massive difference to the future of MND research – just as in the case of the discovery of the VCP gene.

Unfortunately, it isn’t possible to have a look at what happens inside motor neurones of a living patient – the closest we can get at the moment is through imaging studies, which as advanced as they are, are not able, and are not designed, to show what’s happening inside motor neurones. So, the only way researchers can learn about what happens in the brains and spinal cords of patients with MND is to study them.

If you’re interested in donating your brain and spinal cord to MND research then you can read more about it in our tissue donation information sheet.

Please remember that if you are interested then it’s important to set the wheels in motion by talking to an MND tissue bank to ensure that the appropriate paperwork is completed (details of banks are available in linked information sheet). This ensures that arrangements can be made as quickly as possible. It’s also important to tell your friends, family, doctors and neurologists that you would like to donate your brain and spinal cord to MND research so that everybody is aware of your wishes.

Tissue donation is just one way that people affected by MND can have an impact on MND research. If tissue donation isn’t for you, then you can find out more ways to get involved with research by visiting our ‘take part in research’ section of our website.

Information means informed choice

Alternative treatments can be tempting if you have a disease like MND, for which conventional medicine can only offer one moderately effective drug.  Unfortunately this temptation is easily preyed upon by clinics around the world that claim to be able to provide effective treatments or even a cure (at great expense of course), despite having no supporting evidence.

We often take enquiries from people with MND who are considering undertaking one of these ‘unproven’ treatments and want to know if we have more information about them. Often, all we can talk about is the lack of sound evidence that they work, so it can be helpful when a bit of hard evidence does come along – even if it’s suggesting that the treatment doesn’t work. This is the case with an article from the journal ‘Brian Pathology’, which crossed my desk recently.

Many people with MND have travelled to a clinic in Beijing to receive a type of stem cell treatment  known as ‘olfactory ensheathing cell (OEC) transplantation’. This treatment is effectively experimental, having not undergone clinical trials, yet the Chinese clinic demands large sums of money from its patients and does not appear to follow their progress after treatment.

Independent neurologists who have tracked the progress of people with MND before and after treatment in China have failed to see any real improvement in their condition. Now, Italian scientists have presented in Brain Pathology some clues as to why this treatment isn’t working.

Two Italians with MND who had undergone the Chinese treatment generously donated their brains for use in research after they had passed away. This gave the scientists an opportunity to look at what had happened to the transplanted stem cells. They were able to see the tracks left by the needles used during the procedure and found that all of the tracks ended in different places, with none of them actually reaching the main motor neurone pathway from the brain to the spinal cord. The researchers did find some OECs, but they had been trapped within the needle tracks by the brain’s own defence mechanism – so the stem cells never got to where they were really needed.  In addition there was no sign that the transplanted cells had produced any neurone-nourishing substances or turned into neurones or support cells – all mechanisms by which stem cells could potentially have some effect in MND. In light of all of this, it is not surprising that the researchers also found that brains showed all the typical hallmarks of MND degeneration and that their donors had experienced a typical progression of their disease.

This research may only have looked at the brains of two people with MND, but it all adds to the information we can give people who ask us about this treatment – and information means informed choice.

The importance of FUS

It is really quiet in the office today, with a few colleagues out and about for various reasons. As soon as the thought entered my head about having a productive day with no distractions, an email landed in my In Box. Had I seen the research report mentioned in this press release? A quick scan of the release and my thoughts were ‘no’ (I haven’t seen it), ‘how exciting’ and ‘well there goes my quiet afternoon’ in quick succession!

 The bottom line of the research is that some MND researchers in Chicago, USA led by Dr Han-Xiang Deng and Professor Teepu Siddique have been able to make a connection between a biochemical pathway recently implicated in the rare, inherited form of MND (known as familial MND) and sporadic MND. They have found clumps of the ‘FUS’ protein in motor neurones of people with familial MND AND in motor neurones of people with sporadic MND too.

 One of the keys to understanding what causes motor neurones to die in MND is to understand which proteins are deposited in affected motor neurones. Deposits, or clumps, of proteins are common to many neurodegenerative diseases, the main difference between the diseases is which proteins are found. A protein called TDP-43 was the first protein discovered to be consistently deposited in the motor neurones of people who had MND. The results from this Chicago research group showing that FUS protein accumulates in most cases of people with MND is the second discovery of its kind.

The efforts of many people around the world will now be focussed on confirming these exciting results which take us closer to understanding the causes of MND.

All of these studies have been conducted using the post-mortem brain and spinal cord tissue of those that have donate these tissues for research after their deaths. A big thank you to anyone who has helped this happen for close family and friends. More information on this generous opportunity to help MND research can be found on our website.