The 14th UK Neuromuscular Translational Research Conference brought together scientists and clinicians from around the world to share the latest advances in cutting-edge research. The meeting, which took place on 24-25 March, was jointly organised by the MRC International Centre for Genomic Medicine in Neuromuscular Disease and MDUK and was held online for the first time.
The theme of this year’s meeting was ‘new therapy developments in neuromuscular diseases’ and it included a busy schedule of exciting talks and posters on a range of muscle-wasting conditions.
Professor Adrian Krainer from Cold Spring Harbour Laboratory, USA, shared insight into the development of antisense oligonucleotide (ASO) therapies, including Spinraza. He also presented research that is combining ASOs with different molecules in cell models to see if it makes the treatment more effective. Professor Krainer ended his talk by highlighting that ASO technology can work in different ways, for example exon skipping or turning genes off. Because of this versatility, ASOs are being investigated as potential treatments for a number of different conditions, including Duchenne muscular dystrophy and myotonic dystrophy.
Gene therapy is another type of therapy that is being developed for multiple muscle-wasting conditions. Professor Carsten Bonneman from the National Institute of Health in the USA shared an update on an ongoing phase I gene therapy clinical trial for the treatment of Giant Axonal Neuropathy that is being carried out in the USA. The trial is testing the safety and efficacy of a potential gene therapy. This is the first AAV gene therapy to be injected directly to the central nervous system (CNS). Participants in the trial have received the treatment and the trial is ongoing.
There were powerful talks from Professor Charlotte Sumner from John Hopkins University, USA and Professor Laurent Servais from the MDUK Oxford Neuromuscular Centre. They both highlighted evidence suggesting that treating people with Type 1 SMA early in the progression of their condition could maximise the potential benefits of the treatment.
Professor Sumner presented research that improves our understanding of the SMN protein (the protein affected in SMA) during development. Professor Servais shared stories from people with SMA on their experiences of receiving treatment. He showed some remarkable videos of children with SMA who had received treatment and are now achieving physical milestones, such us sitting up and walking. Professor Servais also shared insights from his involvement in setting up a new-born screening programme for SMA in Southern Belgium.
Professor Elizabeth McNally from Northwestern University, USA, gave an interesting lecture on modifier genes in muscular dystrophies. Although most muscle-wasting conditions are caused by a mutation in a specific gene, the severity of the symptoms someone experiences may be affected by the activity of other genes. Professor McNally’s team is trying to identify these potential ‘modifier genes’ and how they might make someone’s symptoms better or worse. They are using this information to design potential therapies in cell and mouse models.
Professor Patrick Chinnery from the University of Cambridge shared research on the origins of mutations in mitochondrial DNA (mtDNA).He showed how studying large numbers of people can shed light onto how mutations arise and are inherited.
Professor Dame Pamela Shaw from the University of Sheffield gave a comprehensive overview of the exciting treatments being developed for motor neurone disease.
It was a fantastic to see talks and posters on MDUK-funded research at the conference. This included an update on the Oxford MDUK Neuromuscular Centre by Professor Dame Kay Davies and Emma Sutton presented her work investigating the potential of repurposing a drug for the treatment of SMA.
Dr Kate Adcock, MDUK’s Director of Research and Innovation, shared an update from MDUK reflecting on the impact of the pandemic and how the community has worked together to support each other. We were also able to share the news of our new research grant round.
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