I have been meaning to post this research update for a while, but once I started writing it, I knew I had to think it out carefully. I maintain a page on Research, which you may like to take a read of before reading this update.

Today I want to give my perspective on where we are with MND/ALS Research and the search for that therapy that would change and prolong lives. The highlight is “We are at extremely exciting times”. 

So here goes.

Firstly, you all should know I have MND/ALS, so my writing comes from a considered position. However, it is of course my opinion only. I do not represent any medical association and all views are my own.

Now, three and half years into the disease and two years post diagnosis I have learned a vast amount about MND and the world of research. I say search for a therapy, as I believe our most realistic approach with improving the outlook for MND/ALS patients is by finding a slowing down or halting therapy. But hey, a slow down or stop is cool, especially if you can limit parts of the body it may progress to. I think I can speak for all people with MND, when I say such a treatment would be a great aim. As a complete sideline, advances in brain computer interfaces and Bio-mechanics are going to progress in parallel. We may see a convergence of Medicine and Bio-mechanics depending on progress rates.

Funding is key. To put things into context, I was diagnosed just 1 month before the biggest MND/ALS windfall ever, the Ice Bucket challenge. In the UK, £7M was raised. This amount was the equivalent in one week to about 6 month’s fundraising! But as I have said before, it is in reality a drop in the ocean for what is needed. But let’s see what this drop has rippled out to!

We are at a stage of discovery, and many pre-clinical trials. But boy, what a lot is going on! I thought I had my head around most of it. Like all media, there is a huge amount of press that is just rubbish scientifically, but there is lot that is really making changes. Typically this work is not big news, as it is pure grunt hard work.

We have had in the last couple of months the discovery of 4 new gene markers from ProjectMinE that I described earlier in my blog. A few reports on the web have stated that this is not a breakthrough! I just don’t know what some people intend by writing such nonsense and negative reports. It most certainly is, why?

Well, firstly, the funding for the analysis was funded by the Ice Bucket challenge, and shows that donations really help.

Secondly, let’s talk about genetics and the importance of every small step.  Genetics have shown to be causative in about 10% of cases.

The gene discovery explosion
25 years ago only 1 gene, SOD1, had been identified. We now know all the following! The size of bubble represents the proportion of cases implicated by the gene.


Acknowledgements to Dame Pamela Shaw for this chart from her presentation (Sept 2016)

So how does this gene discovery help the majority of sufferers if only 10% are genetic?

The key fact is that once genes/markers are identified, a new window is opened to a view on the disease. MND is complicated and genes, their functions and interactions, are not straightforward. A gene might pre-dispose someone to set into action a process that leads to the disease. It may be that this burden is not directly caused by this gene, but a downstream interconnected process. Such a process could also be started by another link or series of steps. It is this multidimensional interaction that means there is a real possibility that finding a gene may lead to a therapy for all MND patients! A bit like finding a skeleton key that opens all doors.

For those who would like to hear an in-depth status of where we are, take a listen to Dame Professor Pamela Shaw’s presentation at the excellent MNDA AGM last week.

Although I wasn’t there, I managed to send a question to Dame Pamela using the wonders of twitter and a friend at the event. Enjoy, and the answer to my question is intriguing. Arhhh that means you have to listen to the whole presentation, or at least the last 10 minutes. In some detail she explains the importance of genetic studies in the search for a therapy.

One thing that Dame Pamela states is that “A single magic bullet is probably not going to appear”. That sounds disappointing, but what she means is that we are almost certainly looking at a cocktail of drugs/personalised medicine.

As Dame Pamela comments, compared to stem cell therapies there are 10 years of solid science and safety behind gene therapy.  That is not to say that stem cells do not have a real place in disease research. It is now easy to create an individual’s motor neurones in a test tube from skin stem cells! Wow. This is a staggering advance for it will allow, and is already allowing, drugs to be screened against HUMAN Motor Neurones before even progressing to real trials. This is a level of efficiency that will only speed the identification of therapies and should direct more targeted trials.

Other interesting areas of trials include Motor Neurone Supporting infrastructure, eg astrocytes and anti inflammation drugs. There are also ongoing trials to test drugs that may help remaining muscles exert more force, or work more efficiently.

There are then at least half a dozen other trials that are moving in the right direction to add to the cocktail of drugs that we need. After this we face FDA approval (USA), NICE (in the UK), and European legislation to get drugs to sufferers.

With the current state of research, it really does feel like we are going to beat MND/ALS. We are probably talking of somewhere between 5 and 10 years away from more postive treatments in my view.


We are moving fast but constant funds are needed. In the UK, these are best directed to the MNDA, who have the expertise to allocate Research funds. If you enjoy my blogs (the light-hearted ones and the serious ones), why not reserve a place in history by making a donation to my justgiving page, “One way or another”?

In return I will continue to write my weekly updates! What a deal!

If I was a betting man, my money would be on a gene therapy cracking MND.

And finally, here is my motto, Real Science Rules.

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