The MND Association’s Director of Research, Brian Dickie explains more about ‘GM6’, also known as ‘GM604’, a drug in development by an American pharmaceutical company Genervon.
The Association funds a wide range of research that leads to new understanding and treatments, which may one day, bring us closer to a cure for MND. We are hopeful that the increasing international research effort into the disease will accelerate the development of an effective treatment for MND. However for non scientists I also fully appreciate how the ‘system’ often seems designed to impede rather than assist this process.
There has been much discussion online about the results of a small scale study of a drug called GM604, or GM6, produced by the American pharmaceutical company Genervon. You can read some general comments about the drug on our website. I’ve written this blog to explain in a little more detail why the research community is cautious about the results. Continue reading →
Published on 19 February 2015 in the Journal Science,an international team of scientists have found mutations in the gene TBK1 as a contributory risk factor in MND.
The majority of cases of MND are caused by a combination of subtle genetic, environmental and lifestyle factors. These subtle genetic factors in the majority of cases of MND (sometimes known as susceptibility genes) may increase someone’s risk of developing MND, but they do not solely cause the disease (they must be present in combination with a number of other factors in order to tip the balance for someone to develop MND). Find out more here.
Under the leadership of Dr Goldstein, based at Columbia University, the researchers have identified a new MND susceptibility gene – TBK1. The researchers used whole genome sequencing to sequence the entire DNA of over 2,874 MND samples in America – you can find out more about this technique here. By screening a large number of samples, the researchers identified mutations in the TBK1 gene as a common subtle genetic factor involved in some cases of MND in America. Continue reading →
With all the talk of new gene discoveries in recent years, the Sunday morning scientific session returned to the original discovery in 1993 that mutations in the SOD1 gene were responsible for around a fifth of familial (inherited) MND cases and 2-3% of all cases of the disease.
Although much of our understanding of MND in the past two decades comes from SOD1 laboratory models of the disease, we still don’t know exactly how SOD1 kills motor neurons. But that hasn’t stopped several groups from working on a number of innovative ways of protecting motor neurons from SOD1 toxicity. Although focused on a relatively rare form of MND, some of the strategies being followed could potentially also be applicable to other forms of the disease.
Ever since the G8 summit on Dementia less than a year ago there has been a huge upsurge in international research activity in the field. In the UK, our friends at MRC Technology (an independent medical research charity which aims to bridge the gap between fundamental research and clinical application) were instrumental in forming a Dementia Consortium to aid drug discovery and help charities, universities and drug companies to work more closely together.
A question was submitted to the Association’s AGM last weekend, which could only be answered in brief at the time, due to the number of issues raised, some of which are of a technical nature. Below is a more detailed response from the Association’s Director of Research (in bold italics) to each point raised.
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. Continue reading →
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. Continue reading →
The day finally arrived on 11 April 2014 for our biannual Biomedical Research Advisory Panel (BRAP) Meeting. This important date in our research calendar is when grant funding decisions are discussed before being put forward to our Board of Trustees for approval.
But before we get to the meeting, there is a lot of preparation that is needed. As you are aware from previous blog posts, applications go through various stages of review, including summary review, invites for full applications and external review. Before the meeting itself there is yet another stage of review for the applications, which is known as internal review. This might seem a bit ‘admin-heavy’, but since we are only able to fund a quarter of such a wide variety of proposals, ranging from cell-based studies to clinical research, we need to be confident that we’re funding the ‘best of the best’. With so many new ideas, ‘separating the wheat from the chaff’ can be a difficult and time-consuming process!
Following on from our ’year of hope’ appeal last month an international team of researchers, including two funded by the MND Association, have identified mutations in the Matrin 3 (MATR3) gene as a cause of the rare inherited form of MND.
Inherited MND is a rare form of MND (5-10% of total MND cases) and the MATR3 gene is the latest to be identified. This rare form of MND is characterised by a family history of MND.
New gene, new gene
When a new gene is first identified this creates a great deal of ‘buzz’ amongst the MND research community, often generating more questions than answers:
How common is this inherited MND gene?
How does this gene cause MND?
This is the starting point for MATR3. Unfortunately, we just don’t know the answers to these questions at the moment. Hopefully MND researchers will now use the discovery of MATR3 to find the answers to these questions and further our understanding of this gene.
If you followed the reporting about the symposium last weekend, I’m willing to bet (but I haven’t checked!) that most it will have been about the talks that people attended or liked. When actually, a large proportion of the research presented at the International Symposium on ALS/MND is in the form of a poster.
Delegates discuss a poster presentation
A poster is a hard copy of a research study, it can be the latest results or developing a new methodology. It’s quite often a PhD student’s introduction into presenting their work face to face to their peers.
Following the day’s talks, on the first and second evening of the symposium, it was time for an opportunity for some informal networking around the posters. At allocated time slots presenters stand by their work and explain it to fellow delegates. (They also have time to visit other posters too).
For twenty of those presenting posters, there was an additional pressure. They were on the shortlist for the International Symposium Clinical and Scientific Poster Prizes respectively.