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Finding new genes that cause limb girdle muscular dystrophies
1 year agoProfessor Volker Straub and his team at Newcastle University will be using a faster and more accurate genetic diagnostic technique, called next generation sequencing, to identify new genetic changes that lead to limb girdle muscular dystrophy (LGMD)....
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Investigating melanocytes as a model for collagen VI-related myopathies
1 year agoProfessor Nadir Maraldi and his team at the Rizzoli Orthapaedic Institute in Bologna are investigating whether a type of skin cell, called melanocytes, could be used as a cellular model to study collagen VI-related myopathies....
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Identifying biomarkers to monitor the effectiveness of utrophin up-regulation
2 years agoProfessor Dame Kay Davies at Oxford University is aiming to identify biomarkers that can monitor the effectiveness of utrophin up-regulators....
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Investigating the role of muscle stem cells in facioscapulohumeral muscular dystrophy
2 years agoIn this PhD studentship, Professor Peter Zammit and his student, Louise Moyle, explored the role that muscle stem cells have in facioscapulohumeral muscular dystrophy (FSH). They delivered the protein thought to cause FSH (DUX4) into muscle stem cells....
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Using exon skipping to boost muscle growth
3 years agoExon skipping that restores the levels of dystrophin protein is currently in clinical trials for Duchenne muscular dystrophy....
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A new animal model of Duchenne muscular dystrophy
3 years agoIn this project, Professor Richard Piercy and his team will study dogs with naturally occurring Duchenne muscular dystrophy which may offer benefits over other currently used animal models of the condition....
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Moving closer to a gene therapy for Duchenne muscular dystrophy
3 years agoGene therapy offers the hope of delivering a fully functional dystrophin gene to muscles for people with Duchenne muscular dystrophy....
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Understanding variation in the effects of myotonic dystrophy type 1 on the brain
3 years agoClinical Research Fellow, Dr Hamilton and his team will investigate how the genetic changes that occur in myotonic dystrophy type 1 affect the severity of the brain-related symptoms associated with the condition such as impairment of thinking and excessive...
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Identifying biomarkers for congenital and limb girdle muscular dystrophies
4 years agoBiomarkers provide a non-invasive way of accurately monitoring progression of a condition and testing the effectiveness of potential treatments in clinical trials....
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Generating a model of FSHD and testing a potential therapeutic approach
4 years agoProfessor Zammit and his team at King’s College London will generate a mouse model that will enable them to study the molecular mechanisms underlying facioscapulohumeral muscular dystrophy (FSHD)....
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