Lab Team Newcastle Muscle Centre
The Newcastle Muscle Centre has a team of researchers working on many aspects of muscle disease. Our research has grown from a practical need to provide molecular diagnoses in various diseases to studying those diseases in the most appropriate model systems using the most up-to-date techniques.
For example, our clinical interest in limb-girdle muscular dystrophies led our group to identify the dysferlin gene a decade ago. Subsequently we provided molecular diagnostics for dysferlin up to the point where this service was absorbed by the NHS. We have since worked hard to understand the function of dysferlin using cell culture and mouse models of dysferlin deficiency and we are now testing new theories of the underlying mechanism in dysferlinopathy, as well as novel treatment regimes.
In a similar manner, the clinical presentation of collagen VI disease such as Bethlem myopathy and Ullrich congenital muscular dystrophy led us to provide a molecular diagnostic service, then to develop a diagnostic algorithm in order to identify these patients more efficiently and our current research in this area focuses on the cellular consequences of collagen VI deficiency, as well as other genetic diseases which resemble collagen VI deficiency.
Other projects underway in the lab focus on cellular models of dystrophin deficiency, the effects of steroids and other drugs on cardiac function in mouse models, the role of DOK-7 at the neuromuscular junction, using MRI to assess biodistribution of therapeutic molecules, the mechanisms underlying muscle damage and regeneration and the myogenic specification of stem cells.