A new research paper has been published today in the Science Translational Medicine journal, describing a new gene implicated in developing MND. What is this gene and why is it important for our fight against MND?
Although they are not the sole cause of MND, genes play a big role in someone’s probability of developing the disease. A number of such genes that make a person susceptible to developing MND have already been identified, with most of them causing the rarer, inherited form of the disease.
A new addition to a list of genes that are related to development of ALS, the most common form of MND, has been discovered by researchers from King’s College London. Dr Bradley Smith and colleagues screened genetic data of an unusually high number of people of European origin: 751 with inherited – familial – ALS (fALS) and 180 with non-inherited – sporadic – ALS (sALS). Detailed analysis of this data found that specific mutations in the ANXA11 gene are associated with around 1% of all fALS and 1.7% of all sALS cases. Continue reading →
A recently published paper exploring the connection between occupational risk factors and MND has sparked lots of interest, especially by the media. The study in question, led by Dr Roel Vermeulen from Utrecht University, The Netherlands, reviewed and studied five occupational exposures that had previously been suggested to be associated with developing MND (specifically, amyotrophic lateral sclerosis; ALS). These factors included exposure to electromagnetic fields, electrical shocks, solvents, metals and pesticides. While a few studies investigating these factors were already conducted in the past, their results are not consistent.
Despite the vast coverage of this topic in tabloids, we wanted to describe the research paper itself – to explain what exactly the researchers did, what they found and what it all means. Continue reading →
As well as all the networking, debate and new information being shared, the International Symposium on ALS/MND is also a time to celebrate achievements by the giving of awards. The Biomedical and Clinical poster prizes are an opportunity to recognise and celebrate the excellent research and clinical practice being conducted by those early in their career.
Now in its fourth year we hope that the poster prizes will help give the winners career a boost, and give them the encouragement and motivation to continue in MND/ALS research. This year the Panel selected an international group of winners: Dr Albert Lee from Australia and Elsa Tremblay from Canada were jointly awarded the Biomedical poster prize and Ruben van Eijk from The Netherlands won the Clinical poster prize. Each winner received a certificate and a glass engraved paperweight.
The prize winning research ranged from understanding the consequences of a newly discovered gene mutation linked to MND, to why the junction between nerves and muscles is one of the earliest signs of motor neurone damage, to a new statistical analysis to make clinical trials quicker and more efficient. Below I’ve explained more about the research that the winners presented. Continue reading →
Today marks the beginning of the next year in MND research around the world, or at least it certainly feels like that! It is the first day of the three day, international MND research conference that the MND Association of England, Wales and Northern Ireland is immensely proud to organise. Continue reading →
The idea that drugs licensed for one disease may have some use in another completely different disease is not new, but it has gained much more attention in recent years. Researchers are developing a new understanding of disease processes, leading to new ‘drug repurposing’ opportunities, with the additional potential to reduce the time and cost of drug development.
Significant advances in genetics and molecular biology in recent years have greatly increased our understanding of the pivotal, carefully balanced cellular processes that usually keep motor neurons healthy but, when disrupted, can cause a cascade of degeneration leading ultimately to their death. Continue reading →
A few months ago we wrote an article about the ALS Clinical Trials Workshop which took place in Virginia, USA. Since then the Guidelines Working Groups have been busy turning the large number of issues debated into a first draft of a new set of guidelines. This is open for comment from 1- 31 August.
Study design and biological and phenotypic heterogeneity
Therapeutic / Symptomatic interventions in clinical trials
Patient recruitment and retention
Different trial phases and beyond – (there are two sections on this)
Within each of these sections, there are many recommendations. The Clinical Trials Guidelines Investigators want to ensure that all interested people and stakeholders have an opportunity to provide input – whether you are a researcher, clinician or person with MND.
Two sets of MND genetic results were published yesterday. One of these results was about the importance of a new gene called NEK1. The second highlighted the role of gene C21orf2 in MND – we wrote an article about this yesterday. Both sets of results were published in the prestigious journal Nature Genetics.
What are the results and what do they tell us?
Researchers found that variations in the NEK1 gene contribute to why people develop the rare, inherited form of MND. Variations in the NEK1 gene were also found to be one of the many factors that tip the balance towards why people with no family history develop MND.
NEK1 has many jobs within motor neurones including helping keeping their shape and keeping the transport system open. Future research will tell us how we can use this new finding to target drugs to stop MND. Continue reading →
Today some exciting news about the genetics of MND was published in the scientific journal Nature Genetics. The results come in two research papers published in the same issue of the journal.
This blog post discusses the results of the first of these papers for which King’s College London based Professor Ammar Al-Chalabi was one of the leading researchers. A post on the second paper will follow later.
Here we’ve given an overview of what the researchers have found, what it means for people with MND and how the analysis was conducted. You can read a more detailed explanation of the research results from the King’s press release. Continue reading →
During MND Awareness Month we are highlighting some of the research the MND Association funds in our ‘Project a Day’ series. Today, on global ALS/MND awareness day, we wanted to give you a look at the research into motor neurone disease taking place elsewhere.
Thousands of researchers across the globe are working towards a world free from MND. Rather than tell you each of their stories, we have gone to those that fund and facilitate this research, and asked them how their efforts bring us closer to figuring out the causes of MND, and finding treatments for this disease.
“I find huge inspiration in the knowledge that when I finish my work for the day, the MND researchers in Australia are just beginning theirs.” Prof Martin Turner, University of OxfordContinue reading →
To mark International Clinical Trials Day (20 May) we reflect on the ALS Clinical Trials Guidelines workshop that took place in March. The MND Association co-sponsored this successful meeting, held at Airlie House in Virginia USA. Approximately 140 delegates from across the world attended, including 11 MND researchers and doctors from the UK.
Why was this meeting held?
The meeting was a key stage in the process to update (and improve) international guidelines for clinical trials in amyotrophic lateral sclerosis (ALS, the most common form of MND).
The first international ALS clinical trials guideline workshop took place in 1998. The guidelines were designed to improve the quality of clinical trials in ALS, and provide evidence based recommendations to those designing and carrying out all stages of clinical trials. Continue reading →