Current research projects

Dr Laura Swan at the University of Liverpool will investigate why mutations in an enzyme called INPP5K cause a congenital muscular dystrophy. This will improve our understanding of the condition, which is key to developing potential treatments.

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 Melissa Bowerman and her PhD student from Keele University will be investigating whether an already approved drug could be beneficial for spinal muscular atrophy (SMA).

Dr Lunn and his team will test a non-invasive magnetic resonance imaging (MRI) method for its ability to be used as a diagnostic tool for people with inflammatory neuropathy.

Professor Francesco Muntoni at University College London (UCL) will identify new genes associated with congenital muscular dystrophy or congenital myopathy and investigate their function....

Dr Gita Ramdharry and her PhD student at University College London (UCL) will investigate a self-management intervention for people with neuromuscular conditions. The focus is on living well with a condition, not just the medical needs.

Dr Gisèle Bonne and her team at the Myology Institute in Paris aim to understand what leads to the wide range of clinical severity in people with LMNA-Congenital muscular dystrophy (LMNA-CMD)....

Professor Eric Schirmer and his team at the University of Edinburgh aim to identify important genes that underlie Emery-Dreifuss muscular dystrophy (EDMD)....

Professor Henry Houlden at University College London is investigating whether an enzyme called Sirt1 has a role in muscle repair in Duchenne muscular dystrophy. Findings from this study will determine if targeting Sirt1 could help to treat Duchenne.

Dr Gonzalo Blanco at the University of York will investigate the function of a muscle protein called KY. This research will improve our understanding of muscle biology and how this is affected in a type of congenital myopathy.