Past research projects

Professor 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)....

Professor 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....

Professor Dame Kay Davies at Oxford University is aiming to identify biomarkers that can monitor the effectiveness of utrophin up-regulators....

In 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....

Exon skipping that restores the levels of dystrophin protein is currently in clinical trials for Duchenne muscular dystrophy....

In 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....

Gene therapy offers the hope of delivering a fully functional dystrophin gene to muscles for people with Duchenne muscular dystrophy....

Clinical 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...

Biomarkers provide a non-invasive way of accurately monitoring progression of a condition and testing the effectiveness of potential treatments in clinical trials....

Professor Monckton and his team will investigate how the complex and changeable mutations that cause myotonic dystrophy type 1 may be linked to the extreme variability in the severity of the condition and the symptoms people experience....