Researcher in genetics laboratory

Newcastle Muscle Centre

The Muscle Centre at Newcastle upon Tyne is one of three centres in England for the diagnosis and management of inherited muscle diseases which are supported by the British Muscular Dystrophy Campaign. The Muscle Centre runs clinics in Newcastle and at various locations across the North of England.

Professors Kate Bushby, Volker Straub and Hanns Lochmuller head the Centre and hold joint appointments between Newcastle University and the NHS. Their time is split between research and clinical commitments, both of which are mainly focused on muscle disease.

Muscle Clinics

The Muscle Team The muscle team runs childrens' and adult clinics for over 1000 patients with a range of inherited neuromuscular diseases throughout the North of England. The main base for the children's clinic is Newcastle General Hospital, and for adults the International Centre for Life. Childrens' clinics are also held at North Tees and Hartlepool and a range of other locations throughout the region, in conjunction with local physiotherapists and other local staff. In addition to the clinics at the International Centre for Life, adult clinics are held in the James Cook University Hospital and the Central Clinic Carlisle.

We try to ensure that all clinics are multidisciplinary and attended by members of the team, which includes our specialist physiotherapist Dr Michelle Eagle, specialist genetic nurses Louise Hastings and Chris Harling, physiotherapy technical instructor Michelle McCallum and a Regional Care Advisor funded through the Muscular Dystrophy Campaign. We also have a programme of nurse led clinics for myotonic dystrophy with cardiological backup.

Muscle clinicThe clinic has collaborative links with colleagues in cardiology, respiratory support, orthopaedics, neuropathology and other specialties. We welcome visiting doctors and other staff for specialised training in neuromuscular disease diagnosis and management.

National Commissioning Group for Rare Neuromuscular Disorders

In addition to the paediatric and adult clinics for people living in the Northern region of England, we have the possibility to offer appointments to people from all over the country in whom a diagnosis of limb-girdle muscular dystrophy (LGMD) is suspected.

Newcastle leads the National Commissioning Group (NCG) for rare neuromuscular disorders, and is specifically responsible for the LGMD diagnostic and advisory service. People with a suspected diagnosis of LGMD can be seen or have muscle or DNA sent for analysis here. We require some clinical information about patients before accepting referrals. For further information about this service please contact Susan Robinson at NCG.

Research programme

As well as running our clinics and limb-girdle service, we have an active role in research into the causes, management and treatment of inherited muscle disorders.

The neuromuscular research group within the Institute of Genetic Medicine is a multidisciplinary team involving clinically based as well as laboratory researchers. We have a long-standing interest in the molecular genetics of the limb-girdle muscular dystrophies. Having been involved in the identification of some of the genes underlying these heterogeneous phenotypes, the emphasis of the group is moving towards understanding the functions of these various genes and proteins and involvement in clinical trials.

We have led workshops run by the European Neuromuscular Centre and Muscular Dystrophy Campaign on diagnostic and management issues in neuromuscular diseases leading to the generation of standards of care. With the Institute of Neurology in London, we are part of the MRC Centre for Neuromuscular Diseases. For further information on our clinical research activities contact our clinical research co-ordinator Geoff Bell (geoff.bell@nuth.nhs.uk).

Treat NMD logoProfessors Bushby and Straub are the co-ordinators of an EU Network of Excellence, TREAT-NMD (www.treat-nmd.eu) which brings together researchers from 21 partner centres to accelerate the development of treatments for rare inherited neuromuscular disorders. Activities address the bottlenecks delaying the development of treatments from animal model assessment, patient registries, outcome measures for trials, and standards of patient care.

Basic research projects

  • The role of dysferlin in normal muscle and muscular dystrophy and the testing of therapeutic targets (Dr Mark Hornsey and Yen Chui)
  • Understanding the collagen VI related muscular dystrophies (Debbie Hicks)
  • Dissecting cardiomyopathy in muscular dystrophies and therapeutic responses (collaboration with Dr Guy McGowan, Ralf Bauer)
  • Zebra fish models of muscular dystrophy and congenital myasthenia (Julaine Muller)
  • MRI to assess muscle damage in muscular dystrophies and the response to therapuetic interventions (Penny Garood)
  • Biobanking and use of human myoblasts for therapeutic testing and therapy development (Hanns Lochmuller)

Clinical trials

  • Antisense oligonucleotides in DMD (The MDEX consortium, PI Francesco Muntoni, Imperial College)
  • A systemic trial of PTC 124 in stop codon mediated DMD (PTC)
  • The UK heart protection study (PI John Bourke, Newcastle upon Tyne)
  • An international trial of steroid dosage in DMD (under consideration with NIH)