After its successful premiere in 2017, the University of Oxford organised another meeting of people affected by inherited MND, called ‘Families for the Treatment of Hereditary MND (FaTHoM)’. This turned out to be yet another excellent day where MND clinicians-researchers presented on topics such as genetics of MND, genetic testing and gene therapies. Below you can find out more about what was presented on the day and links to the videos of recorded talks.
Understanding familial MND
Introducing the rationale of the meeting, Prof Martin Turner set the scene by explaining the great difficulty in understanding the disease due to its many possible causes. Being such long cells, many things can go wrong in the motor neurones and in the vast amount of their support cells (such as astrocytes or microglia). But one factor can help us understand the disease better – genes.
“The annals of ALS clinical trials is strewn with failed studies. Only two out of more than 70 clinical trials have been positive, and even these showed only very modest benefit. Is this dismal record strictly due to the extraordinary complexity of neurodegenerative disease in general, and ALS in particular? Or is it due to methodological flaws that could be repaired?”
Robert G Miller, Professor of Neurology, Stanford University
Although there is not much we can do about disease complexity, improving the way treatments are trialed is something that can be achieved. Imagine a world without clinical trials, where independent companies or individuals would be allowed to sell their self-made ‘drugs’ without any evidence that they were ever used on anyone with the disease, let alone that they would improve one’s condition. No one would know what the drug is (which could simply be a water solution), how it works and whether as soon as the drug is taken, we would be poisoned.
Thankfully, this is not the case and clinical trials, although not perfect, are considered the gold standard for approving any treatment. However, there are still some improvements that can be done to make trials easier to access and provide more accurate estimates of drugs’ effectiveness much faster.
It has been almost a year since we announced that AMBRoSIA (AMulticentre Biomarker Resource Strategy In ALS) had begun to recruit participants (read the Autumn 2017 edition of Thumbprint).
AMBRoSIA is the biggest project that the MND Association has ever funded and recruitment occurs at three sites throughout the UK (Sheffield, headed by Prof Dame Pam Shaw, Oxford, headed by Prof Martin Turner and London, headed by Dr Andrea Malaspina).
The project will collect a number of biological samples, including blood, cerebrospinal fluid (CSF), urine and skin in order to identify biomarkers (markers of biological change) that could be a signature of MND.Read More »
This article was written by our Senior Clinical Fellow Prof Martin Turner, a Consultant Neurologist at John Radcliffe Hospital, Oxford.
“Will it affect my children?” This is one of the questions most commonly asked by people diagnosed with MND. The 20th century answer was a simple “no”, or at least “very unlikely”. With recent scientific advances, however, doctors must give a more complicated answer. At the same time, these advances are cause of excitement about the greater understanding of MND and new hope for treatments for all cases.Read More »
Conferences and symposia are a crucial part of the research world – not only for the amount of knowledge that is communicated to large audiences but also for the exchange of ideas on a more inter-personal level. Novel ideas are created there as well establishment of collaborations that might lead to new research projects and clinical trials – all in all, putting a bunch of researchers in a venue with a projector, coffee and biscuits can only lead to good things!
One of the recent events that I had the pleasure to attend was a small-scale conference – the Mini-Symposium on generic disease mechanisms in MND and other neurodegenerative disorders. Held at the Brighton and Sussex Medical School in late June, this event was a precursor to the inauguration of a new MND Care and Research Centre for Sussex, directed by Prof Nigel Leigh.Read More »
In April this year MND clinician-researchers Professors Martin Turner and Kevin Talbot at the University of Oxford organised an information day about the rare, inherited form of MND called ‘Families for the Treatment of Hereditary MND’ (FATHoM). The day was filmed and podcasts of the talks have recently become available. This article gives an overview of each talk and a link to the video.Read More »
The AMBRoSIA (A Multicentre Biomarker Resource Strategy In ALS) project is our biggest, most ambitious research undertaking to date. The project funding began in August, closely followed by being the focus of this month’s ‘Make Your Mark’ fundraising appeal. Here we explain more about what this flagship project is all about.Read More »
Biomarkers in Oxford (BioMOx) is a research project with the aim of identifying a diagnostic biomarker for MND, which could be used to track the progression of this condition.
What are biomarkers?
The aim is to identify biomarkers, or ‘biological fingerprints’ for MND. This could be through testing blood and spinal fluid (CSF) samples from people with MND, or using MRI scans and other imaging techniques to look at changes in the brain.
By understanding the very earliest changes detected in these samples at the start of MND (the biomarker), it is hoped that they could be used to work towards disease prevention and to develop more targeted therapy for those already affected by MND.
For example, including a biomarker element in future clinical trials will help us learn more about the disease and identify participants most likely to benefit from the drug being tested.
Being able to track the progression of the disease could also help with effective care-planning for people with MND.Read More »
The fantastic news that Patrick Joyce and his co-inventors have won the 2015 Hackaday Prize for their ‘Eyedrivomatic’ invention is one of a number of research prizes announced this autumn.
At the beginning of November Prof Martin Turner was presented with the Graham Bull Prize for Clinical Science by the Royal College of Physicians (RCP). The Prize is awarded to a member of the RCP under the age of 45 who has made a major contribution to clinical science.
The winner of the Graham Bull Prize is also invited to deliver the prestigious Goulstonian Lecture, an annual lecture given by a young RCP member that dates back to 1635 and the list of previous speakers reads as a ‘Who’s Who’ of the history of British Medicine!
Those of you who know Martin, in particular the many participants who volunteer for his BioMOx research programme will be pleased to see his new title: he was awarded the title of Professor by the University of Oxford in July this year. Aren’t Professors getting younger looking these days…!Read More »
“On the seventh day of Christmas MND research gives to you… our SEVEN research strategy themes”
It’s New Year’s eve, a time to look back and celebrate on 2014 and our MND research achievements. It’s also a time to look to the future; in 2015 we will be funding new MND research in line with our research strategy.
The exact cause of the majority of cases of MND is still unknown. Therefore identifying the causes is our first step in understanding MND and developing future treatments.
In 2014 we identified two new inherited MND genes and also announced funding for the UK Whole Genome Sequencing project to better identify the rarer genetic factors involved in causing the disease. Read more.
2) Create and validate new models
Once we identify a genetic cause of MND, we need to find out how this gene causes MND. Animal and cellular models help us to find out how the gene affects the motor neurones and how this causes disease in a complex animal system. Read More »