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.
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.
Earlier this year, the MND Association and ALS Association met with MRCT to discuss the possibility of extending the collaborative model across other neurodegenerative diseases such as MND and Parkinson’s disease. This idea has generated a lot of enthusiasm from charities and patient organisations on both sides of the Atlantic, which has resulted in the launch of the Neurodegeneration Medicines Acceleration Program at the Partnering for Cures conference in New York. Find out more about this here. Read the rest of this entry »
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. Read the rest of this entry »
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. Read the rest of this entry »
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!