Past research projects

Professor Peter Zammit and his team at King’s College London are investigating how DUX4 causes facioscapulohumeral muscular dystrophy (FSHD), with a focus on how DUX4 affects an important protein called PAX7....

Professor Andrew Blamire and his team will test whether a non-invasive magnetic resonance imaging (MRI) method can be adapted to aid diagnosis and the measurement of progression of spinal muscular atrophy (SMA).

Dr Anne-Marie Childs and Dr Talat Mushtaq will be studying bone health and the risk of fractures in boys with Duchenne muscular dystrophy as an extension to the ongoing investigation into bone health led by Dr Joseph and Dr Wong in Glasgow.

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)....

In this project Professor Brook and his team at the University of Nottingham are developing two state-of-the-art techniques to study what happens to the faulty RNA in myotonic dystrophy after treatment with potential therapies....

Dr Robert Knight at King’s College London is investigating how DUX4 affects muscle stem cell function in a zebrafish model of facioscapulohumeral muscular dystrophy (FSHD)....

Professor Dominic Wells at the Royal Veterinary College is investigating whether activating AMPK, an enzyme that plays a role in cell health, has a beneficial effect in dystrophic muscle....

In this study Professor Straub and his team are investigating how to improve an imaging technique, called magnetic resonance imaging (MRI), to accurately measure fibrosis in mouse models of Duchenne muscular dystrophy....

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 Wallgren-Pettersson and her PhD student, Lydia Sagath have developed improved diagnostic tools to identify mutations that can cause nemaline myopathy....