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A pilot study to establish a new tool to investigate motor skills in SMA mouse models
In this pilot study, Dr Bowerman will aim to establish new tools for assessing mobility skills that can pick up even small but highly important differences in movement, in spinal muscular atrophy (SMA) mouse models.
Read A pilot study to establish a new tool to investigate motor skills in SMA mouse models
Improving muscle function by reducing scarring and restoring dystrophin in Duchenne muscular dystrophy
This grant by Professor Linda Popplewell aims to assess if molecular patches, also known as antisense oligonucleotides (ASOs), designed to reduce muscle scarring can improve the efficacy of therapies that promote dystrophin restoration.
Read Improving muscle function by reducing scarring and restoring dystrophin in Duchenne muscular dystrophy
The importance of collagen VI genes in muscle stem cell function
Professor Morgan will investigate whether collagen VI genes are important for the proper function of muscle stem cells.
Read The importance of collagen VI genes in muscle stem cell function
A study of balance in people with type-1 myotonic dystrophy
Dr Kaski and his team will study balance in people with type-1 myotonic dystrophy. Their aim is to define the characteristics of the condition that may be used as a “biomarker” that predicts how the condition will develop.
Read A study of balance in people with type-1 myotonic dystrophy
Studying the importance of metabolic stress in FSHD
Professor Zammit’s team aims to study the relationship between metabolic stress and pathology in FSHD, an area that to date has been poorly researched.
Read Studying the importance of metabolic stress in FSHD
Using brain imaging to study myotonic dystrophy
Dr Vivekananda will look at brain activity in people with type-1 myotonic dystrophy to determine measurements that are useful for prognosis and clinical trials.
Read Using brain imaging to study myotonic dystrophy
A natural history study of people with congenital myotonic dystrophy
Dr Turner’s team will collect data from people with congenital myotonic dystrophy, with the aim of understanding which disease traits are clinically useful for assessment of the condition.
Read A natural history study of people with congenital myotonic dystrophy
Developing new delivery methods for microdystrophin gene therapy
Professor Matthew Wood and his team at the MDUK Oxford Neuromuscular Centre are investigating new delivery methods for gene therapy. Although this project will focus on gene therapy for Duchenne muscular dystrophy, its findings will be valuable for the development of gene therapies for other muscle-wasting conditions.
Read Developing new delivery methods for microdystrophin gene therapy
Improving the delivery of molecular patches for spinal muscular atrophy
Professor Matthew Wood from the MDUK Oxford Neuromuscular Centre is developing molecular patches for spinal muscular atrophy (SMA) that can cross from the blood into the central nervous system. This research could lead to potential treatments that are safer and less invasive than Spinraza.
Read Improving the delivery of molecular patches for spinal muscular atrophy
A pilot study testing a potential treatment for mitochondrial myopathy
Dr Spinazzola and colleagues at University College London (UCL) and Newcastle University are carrying out a pilot study testing a potential treatment in people with mitochondrial disease.
Read A pilot study testing a potential treatment for mitochondrial myopathy
Screening for molecules that alter myosin function
Dr Arianna Fornili and her PhD student at Queen Mary University of London are searching for molecules that alter the function of a protein called myosin. This could lead to the development of potential treatments for nemaline myopathy.
Read Screening for molecules that alter myosin function
Using mini-muscles to test genome editing for laminopathies
Dr Francesco Saverio Tedesco and his PhD student at University College London will test genome editing tools in 3D ‘mini-muscles’ that model laminopathies. This research could lead to the development of potential therapies that correct a variety of laminopathy mutations.
Read Using mini-muscles to test genome editing for laminopathies

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