The latest research into muscle wasting conditions at the UK Neuromuscular Translational Research Conference

16 May 2025

We attended the 18th UK Neuromuscular Translational Research Conference on the 15 to 16 April 2025 at Newcastle University, where each year we award a prize for the best talk to help fund attendance at a future conference. These conferences are a key part of research, helping researchers to connect, share ideas and forge collaborations. Researchers from around the world gathered this year to showcase the latest research into muscle wasting and weakening conditions. We share some of our highlights.

Spotting muscle wasting conditions earlier

David Bick from Genomics England Ltd. talked about The Generation Study, which looks at gene changes at birth using whole genome sequencing. Changes in our genes cause muscle wasting conditions, often from birth. However, symptoms don’t always appear right away, they can take years to show up. Catching these conditions early means people can get support and treatment sooner. The Generation Study aims to identify rare genetic conditions, before symptoms appear, by looking for gene changes at birth.

The study uses whole genome sequencing (WGS), which looks at all of the genes in someone’s body. So far, the study has shown that WGS is useful but has some challenges. For example, some genes are linked to more than one condition, and the test can sometimes incorrectly identify a gene change where there isn’t one (known as a false positive). In those cases, follow-up tests are needed. Still, WGS shows early promise at diagnosing muscle wasting conditions in newborns.

Better ways to find gene changes

Diagnosing rare genetic conditions can be tricky and time-consuming. Doctors often start by looking at a person’s symptoms and, if they suspect a genetic condition, they order a test. But some types of gene changes are hard to detect with current testing.

A newer method, called long-read sequencing, may help find more of these changes. Emma Baple, University of Exeter, demonstrated how researchers are using long-read sequencing to tell the difference between rare conditions with similar symptoms. Christian Gilissen, Radboud University Medical Centre, shared how this new technique helped his team discover previously missed gene changes in the DMD (linked to Duchenne muscular dystrophy) and TTN genes (linked to various types of muscle wasting conditions).

Although this technique still experiences some technical problems it provides a new and powerful approach to finding gene changes which could lead to faster, more accurate diagnoses for people with rare conditions.

Tracking how conditions progress

Several sessions focused on developing biomarkers. A biomarker is anything that can be measured in the body to help diagnose a condition or monitor its progression. There are currently very few biomarkers available to assess muscle wasting conditions. The development of new biomarkers would help to improve diagnosis, give people more information about how their condition may progress and may also help to speed up clinical trials by predicting how people will respond to treatment.

Mary Reilly, University College London, talked about using MRI scans to measure how fat builds up in muscles over time in people with Charcot Marie Tooth disease (CMT). As the condition gets worse, fat gradually replaces muscle, making muscles weaker. CMT usually progresses slowly, making short-term changes hard to see. Professor Reilly showed that MRI could spot changes over a period of a year that help predict how the condition might develop over four years.

This method isn’t yet an approved (or “validated”) biomarker. However, one day it could help doctors better understand how someone’s CMT will progress and help show if a treatment is working in a clinical trial.

Towards more personalised treatment

Rebecca Schüle, Heidelberg University Hospital, and Marlen Lauffer, Leiden University, talked about the future development of antisense oligonucleotides (ASOs). Researchers design ASOs to target specific gene changes. For example, they have used them to treat Duchenne muscular dystrophy, a condition caused by changes to the dystrophin gene.

ASOs could be developed to target really rare gene changes, which may only affect a small number of people or even a single person. This kind of personalised treatment holds exciting potential, but there are still challenges to work through, like how to deliver the treatment, check how safe it is and get it approved.

Still, these early steps are encouraging and offer cautious optimism for more targeted therapies for people living with rare muscle wasting and weakening conditions.

Supporting researchers

Attending conferences is a key part of research, it helps researchers connect, share ideas, and spark new collaborations. That’s why we’re committed to support researchers to take part. One way we do this is through the MDUK UK Prize, which awards £500 to the best talk to help fund attendance at a future conference. Ji-Ming Yang, University of Cambridge, won this year’s prize for his work on computer models that aim to improve the diagnosis of mitochondrial conditions.

Thanks to sponsors Dyne Therapeutics, Sarepta Therapeutics, Edgewise Therapeutics, Santhera Pharmaceuticals, Lupin Healthcare, Abcuro and ITF Pharma UK without whom this conference would not have been possible.