Introduction to our research


The research team conducts basic research into the nature and molecular pathology of neuromuscular diseases using cutting edge genetic techniques.

We aim to identify novel genes as the basis of our research which both informs patients and their families with these conditions and enables our ongoing research. We then aim to assesses the function of these genes in various model systems with the view that understanding how loss of function in these genes causes neuromuscular disease will help us to develop novel ways to treat these devastating conditions. This process is known as translational research, where basic research develops into treatments for the patient population.

One such therapy is antisense oligonucleotides to treat Duchenne muscular dystrophy. Whilst we did not invent these compounds, we are involved in the ongoing research into their development which aims to deliver better, safer and more effective treatments by optimizing the drugs and furthering our understanding of how they operate.

Job vacancies for the research team can be found on the main University website but we are always interested in hearing from people who want to work with us.

For further information please contact the lab manager :

MRC Centre for Neuromuscular Diseases at Newcastle
Institute of Genetic Medicine

+44 (0) 191 241 8614

Research Areas

Antisense Oligonucleotide Therapies for Duchenne Muscular Dystrophy

Almost 25 years after the discovery of the dystrophin gene, the first generation of antisense oligonucleotides (AON) has entered clinical trials to target post-transcriptional control mechanisms and improve dystrophin expression and function.

Molecular Genetics of Neuromuscular Diseases

One major focus of the research team is to identify the causative DNA changes underlying the NMD in patients both from the North of England, but also worldwide.

Understanding the Function of NMD Genes

There are over 20,000 genes in the human genome. Whilst the function of many has been worked out in some detail, many others remain of unknown purpose.