Long before the latest wave of cellular and molecular biology advances started to give us new information on what was going on at the cellular level in MND, some doctors had observed that if the disease started in one particular part of the body, it would be neighbouring parts that became affected next. This suggested that the disease usually starts in a single part of the brain or spinal cord before spreading further, like ripples in a pond.
How this happens is not well understood. It is likely that there are a number of processes going on, but they can broadly be divided into two theories. One of these is that damaged proteins can leak out of sick neurons and ‘infect’ their neighbours – a subject we have discussed at previous international Symposia.Read More »
RNA is the lesser-known ‘cousin’ of DNA – it contains copies of genetic instructions sent out from the nucleus – the ‘control hub’ of every cell. This RNA is carried out of the nucleus by lots of different proteins, including the RNA-binding proteins TDP-43 and FUS, which act as ‘couriers’ dropping off their RNA at the right part of the cell and then returning to the nucleus for the next package.
These binding proteins both play an important role in motor neurone health. In motor neurones affected by MND, the TDP-43 and FUS seem unable to make their way back to the nucleus so they form clumps in other parts of the neurone. How and why this happens is not really understood and several presentations on the first day of the Symposium provided insight into what might be going wrong. Dr Brian Dickie, Director of Research Development at the MND Association, summarises these presentations in his blog Libraries, Doormen and Harry Potter. You can also hear Brian talk about RNA proteins on the Symposium website.Read More »
From abstracts to posters, pushpins to ribbons, it takes a whole year to get to this day – no, not Christmas, but the 28th International Symposium on ALS/MND. In this and the following ‘catch-up’ blog we will summarise what went on at the Symposium and where you can find out more information. To begin with, you can read about what goes into organising the biggest meeting of its kind on our blog: It’s that time of year again … #alssymp.
Because of the diversity of the talks presented at the Symposium, we categorised them into five key themes that follow the timeline ‘from bench to bedside’; biomedical research, diagnosis and prognosis, causes of MND, clinical trials and treatments, and improving wellbeing and quality of life. You can read more about each of these themes on our Symposium LIVE webpages.Read More »
Looking for a treatment for MND is the ultimate goal of the whole MND community. Unfortunately, as MND is a very complicated disease, it is not as easy as it may sound. Setting aside the sheer cost of running trials, researchers have to look at all the possible causes of MND (the genes, lifestyle and environment) and then target these with specific compounds and hoping that this strategy won’t be halted by a different biological process. This is made even harder by the large number of possible combinations of these causative factors and the many different ways these can interact.
Thankfully, lots of research groups across the world are doing their best to tackle the adverse disease mechanisms, which is why we heard lots of results of early as well as late stage clinical trials, new strategies to design better treatments in the future, and lessons learnt from previous studies.
While there was much more to hear and read at the Symposium, here we summarise the Clinical trials session (4B), where five presenters reported results and analyses of the treatments they have been investigating.Read More »
At the end of a very busy Day 2 of the Symposium, I sat down with my colleagues for a quick chat. After a while, one of them, who has been with the Association since 1995 told us how someone once asked him: ‘So if you look at the last 20 years, how has the world progressed to know more about MND, since there is still no cure to halt it?’. ‘Technology!’, he replied without hesitation. (Alright, he is a tech guy by occupation, so his opinion might be a bit biased, but he still proves the point I am trying to make).
Technology in the world of research has progressed incredibly far. From the ability to sequence the whole genome of a person in a fraction of the time (and price) that we were able to do a decade ago, to using delicate electrodes and sensors to explore what is happening inside our bodies.Read More »
I usually travel to London two to three times a month for meetings and lab visits. If I’ve got any length of spare time, I head for what I call my ‘London office’ – aka the British Library. It’s close to Euston station, it’s free (!) it has a nice café for informal meetings and it has copies of all the latest textbooks and major research journals.
The way in which a cell turns its genetic instructions into the protein ‘building blocks’ it needs to function and survive is sometimes compared to a library.Read More »
Warmest congratulation to Dr Marka van Blitterswijk of the Mayo Clinic in Jacksonville, Florida, winner of this year’s Paulo Gontijo Prize in Medicine.
The Award is presented to an outstanding young investigator working on ALS/MND, with judging based on the significance of a recent scientific paper published by each applicant, plus an evaluation of the relevance and impact of their career to date. I have had the pleasure of serving on the Judging Committee, Chaired by Prof Mamede de Carvahlo, since 2011 and each year the competition gets tougher and tougher. It is so heartening to see the increasing number of excellent young scientists dedicating their careers to the fight.Read More »
It was only one week after the 27th International Symposium on ALS/MND in Dublin had ended when we started the next stage of planning for Boston 2017. Now a year has passed and we are here again, waiting to learn about the exciting research that is happening throughout the world. But before we start talking science to you, I thought I would give you a whistle-stop tour of what it takes to organise the Symposium.
It all starts with a selection of a venue at least three years prior the event. This has to tick a number of boxes, including appropriate number and size of rooms for platform and poster presentations, a place for exhibitors, lunch, ease of access both inside the venue as well as outside with respect to the location from transport facilities and so on. A number of site visits are organised to ensure that we are familiar with the venue so that we can plan the location of the platform sessions, locations for exhibitors, lunch, meetings, and networking. And then the year of the event comes…Read More »
Whilst the vast majority of MND research happens in the lab, there is also an increasing amount of research activity looking into how best to manage the various symptoms of the disease. There are a lot of unanswered questions as to ‘What Works and What Doesn’t?’ and without a decent level of evidence, it is increasingly difficult in these cash-strapped days to get new or even existing types of therapy adopted into mainstream statutory care.
One such ‘Cinderella’ subject is psychological support for people with MND. It’s hardly surprising that studies show almost half of people diagnosed with MND experience depression and almost a third experience anxiety, yet there is very little guidance on how to best address these symptoms. As a result, formal psychological support is not routinely offered and where it is, the particular approach taken is based on best judgement rather than robust evidence.Read More »
In their official press release published on 21 November 2017, Cytokinetics Inc. announced that they will not be continuing work on tirasemtiv after disappointing results in the latest Phase 3 clinical trial. The trial, known under the acronym ‘VITALITY-ALS’, tested whether the drug has a beneficial effect on the breathing function and muscle strength of people with MND. This is very unfortunate news for everyone affected by the disease, however, Cytokinetics are already testing another compound with the hope that this will be more effective and better tolerated than tirasemtiv.
Tirasemtiv is a drug that aims to improve quality of life of people living with MND by increasing strength of their skeletal muscles (controlling body motion and posture) and therefore postponing muscle fatigue. It compensates for the missing nerve signal from a motor neurone to a muscle that instructs it to contract. Tirasemtiv activates a protein called troponin by increasing its sensitivity to calcium, which is crucial for muscle contraction.Read More »