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....

Dr Federica Montanaro at University College London (UCL) is investigating the impact that exon skipping has on the function of the dystrophin protein....

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....

In this project, Professor Dame Kay Davies and her team will continue their search for new compounds that can increase levels of a protein called utrophin. Utrophin is similar to dystrophin and found in small amounts in adult muscle....

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

In this project Professor Francesco Muntoni and Dr Francesco Conti are aiming to develop a new gene therapy approach called genome editing to repair mutations in the dystrophin gene caused by duplication of a sequence of DNA....