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Research News
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We’ve awarded almost £600,000 to Professor Laurent Servais at the University of Oxford to carry out a natural history study of people living with nemaline myopathies.
He will be tracking the progression of nemaline myopathies across multiple UK sites, with a goal of recruiting 45 patients to help shape future research and clinical trials.

We’re awarded £75,000 to Professor Carsten Bonnemann and his team to develop a new exon-skipping therapy for collagen VI-related muscular dystrophy, using adeno-associated viruses to deliver genetic material into cells.
The “pseudoexon-skipping” approach aims to target a genetic change in COL6A1, which causes muscle damage and severe forms of collagen VI-related muscular dystrophy, with the potential to improve outcomes for those living with Bethlem myopathy and Ullrich congenital muscular dystrophy.

While recent treatments for Spinal muscular atrophy (SMA) have emerged, they are not complete cures.
We’re funding a study to explore drug repositioning, identifying existing drugs approved for other diseases that could help treat SMA by profiling molecular effects, with the aim of improving future treatments and easing the management of the condition.
This piece is written by Bill Duddy, a senior lecturer in the neuromuscular research team at Ulster University School of Medicine, who, after losing his brother to Duchenne muscular dystrophy, has dedicated his career to understanding and treating neuromuscular conditions. Read Bills story.
Understanding our community‘s priorities better
At the end of 2023, we launched a community survey to better understand the priorities of those living with muscle-wasting conditions and those supporting them. A key finding being the need to raise awareness among healthcare professionals:
It took four or more meetings with health professionals for the majority, 55%, of respondents to get a diagnosis.
Just under half, 47%, faced being misdiagnosed at some point.
A significant majority, 69%, waited more than a year to receive a diagnosis.
84% said increasing the understanding and awareness of muscle wasting and weakening conditions was a key priority.
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