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. The findings from this study will determine if activating AMPK is a suitable approach for the treatment for Duchenne muscular dystrophy.

Dr Linda Popplewell has been awarded a prestigious five year Lectureship to build capacity in research for Duchenne muscular dystrophy. In this research programme which will include two PhD studentships, she aims to develop a unique and comprehensive genetic therapy for Duchenne muscular dystrophy that will address the mutation in the dystrophin gene, reduce fibrosis and encourage muscle growth. Her approach will be applicable to the majority of boys with the condition.

Dr Julien Ochala and his student at King’s College London are aiming to improve our understanding of the molecular causes that underlie two types of congenital myopathies; Laing distal myopathy and Myosin storage myopathy. Importantly, to do this they will generate novel zebrafish models of the conditions. This research will help to direct future research and identify novel therapeutic approaches.

Professor Morgan and her team will develop and test a novel cell- and gene-based therapy for Duchenne muscular dystrophy. The approach is based on the theory that an individual’s own skin cells can be reprogrammed into induced pluripotent stem cells (iPSCs), the genetic mutation repaired, the cells developed into cells capable of muscle repair and transplanted back into damaged muscles. The efficacy of the approach will be tested by injecting the generated cells into a mouse model of Duchenne muscular dystrophy and measuring their ability to increase fully functional dystrophin protein.

Dr Tedesco and his PhD student aim to develop 3D ‘mini-muscles’ in the laboratory as a model of Duchenne muscular dystrophy. These will be developed from iPS cells from people with the condition. This research will provide an important tool to screen for effective treatments.

In this project Dr Ros Quinlivan at University College London will lead an international clinical trial to test a drug for McArdle disease.

Professor Francesco Muntoni and his team at University College London will develop molecular patches that could be a potential treatment for people with Ullrich congenital muscular dystrophy. This research will also help to further enhance molecular patch technology, which will be beneficial for the neuromuscular field in the long-term.

Professor Carsten Bönnemann and his team at the National Institute of Neurological Disorders and Stroke in Maryland, NIH USA, will make a new mouse model with Ullrich congenital muscular dystrophy (UCMD), which will be an important tool for researchers. They will use this to test a molecular patch that could be a potential treatment for people with UCMD.

Professor Francesco Muntoni is developing a novel therapeutic approach for people with Ullrich muscular dystrophy caused by dominant mutations in one of the collagen VI genes.

Professor Muntoni and his PhD student at University College London will search for new genes causing congenital muscular dystrophies and congenital myopathies.