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Current Projects
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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.
Understanding liver disease in X-linked myotubular myopathy
Professor Dowling and team are using models to understand why, how and when liver disease occurs in some children with X-linked myotubular myopathy.
Understanding how the brain is involved in Duchenne and Becker muscular dystrophy
Dr Hermien Kan will use brain scans, assessments of brain function and behavioural data to understand more about how Duchenne and Becker muscular dystrophy impacts how the brain works.
Developing a molecular patch for collagen VI-related muscular dystrophy
Professor Carsten Bonnemann and his colleagues from the National Institute of Health (US) aim to develop a new kind of molecular patch for Collagen VI-related muscular dystrophy that can be delivered using adeno-associated virus (AAV).
Understanding the biology underlying a form of congenital muscular dystrophy
This PhD studentship, to be supervised by Dr Laura Swan at the University of Liverpool, will investigate the structure and function of INPP5K, a protein that is important in congenital muscular dystrophy.
LifeArc Centre to Treat Mitochondrial Disorders
The LifeArc Centre for Rare Mitochondrial Diseases (LAC-TreatMito), led by Professor Patrick Chinnery at the University of Cambridge, aims to improve diagnostics and develop treatments for mitochondrial diseases.
Improving accessibility of bone density scanning for wheelchair users living with muscle wasting conditions
Dr Jarod Wong will lead a study involving people living with muscle wasting conditions and healthcare workers to improve the accessibility and performance of bone density scanning to make monitoring weak bones more straightforward.
Understanding the link between the shape of nuclei and DNA organisation in muscle cells from people living with laminopathy
Professor Francesco Saverio Tedesco and his PhD student at University College London aim to understand if changes in the shape of nuclei in muscle cells of people with laminopathies cause the loss of organisation of DNA.
Understanding the molecular processes that cause the progression of FSHD
Professor Giorgio Tasca and colleagues from Newcastle University will study muscle cells from people living with Facioscapulohumeral muscular dystrophy (FSHD) to see whether specific genes are switched on or off and where in the cells this happens.
Developing a mouse model and treatment for SORD neuropathy
Dr James Sleigh and colleagues from University College London will use a mouse model of SORD neuropathy to test potential gene therapies for this condition.
Developing a gene editing technique as a potential treatment for Duchenne muscular dystrophy
Professor Linda Popplewell and her PhD student at Teesside University will develop a new type of gene editing therapy for people living with Duchenne muscular dystrophy (DMD). This potential therapy could be suitable for many people with DMD unlike other potential treatments that target specific regions of the DMD gene.
Understanding genetic variations in different tissues of people with DM1
Dr Ami Ketley from the University of Nottingham will use a new technique and computer analysis to look at different tissues in mice that have the same genetic information as people with myotonic dystrophy type 1 (DM1) to understand what is happening in the heart, brain and muscles.