The Newcastle Muscle Centre is part of the Institute of Human Genetics, a 5* research organisation within Newcastle University. It is a centre of excellence for diagnosis, management and research into inherited neuromuscular diseases. The Muscle Centre 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 Lochmüller head the Centre and hold joint appointments between the University of Newcastle upon Tyne 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 runs children's 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. Paediatric clinics are also held at a range of other locations throughout the region, in conjunction with local physiotherapists and other local staff. We aim 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.

The 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.

PEALS

The Policy Ethics and Life Sciences Research Centre (PEALS) is an internationally rated 'think tank' with a focus on identifying and examining social and ethical issues in Life Sciences research. We conduct pioneering research and facilitate dialogue between researchers and policymakers, scientists, health professionals, patient groups and industry. We aim to influence current and future agendas in the Life Sciences.

We run a lively and varied research programme that is both well established and highly regarded: locally, nationally and internationally. The Centre has a proven record in public engagement and involvement in regulatory and policy-making bodies.

Ongoing research in PEALS builds on our established areas of expertise in genetic and reproductive technologies and in disability studies, and on our growing areas of collaboration in ageing and nanotechnology. At the same time, we are responsive to new opportunities and are at the forefront of exploring emerging issues.

Professor Kate Bushby has overseen the expansion of the Newcastle Muscle Centre since 1999 to its position today as a leading international neuromuscular centre. Together with Volker Straub, Katie is joint coordinator of the TREAT-NMD network.

Kate is also a member of the Scientific Advisory Committee of the AFM. In the UK she is Deputy Director of the MRC Centre for Neuromuscular Diseases at UCL and Newcastle and Clinical Director of the NCG diagnostic and advisory service for rare neuromuscular disorders (limb-girdle muscular dystrophies). 

Professor Volker Straub is joint co-ordinator of TREAT-NMD, executive board member of the World Muscle Society and executive board member of the Institute of Human Genetics at Newcastle University.  Together with Hanns Lochmüller, Volker was responsible for setting up the German muscular dystrophy network, MD-NET, of which he was joint coordinator until 2008. Within the neuromuscular research group at Newcastle, Volker has a long-standing interest in the pathogenesis of muscular dystrophies, with research using zebrafish and mouse models.  His current research also involves the application of contrast enhanced MRI.

Professor Hanns Lochmüller joined the Newcastle Muscle Centre in 2007 from Munich. Together with Volker Straub, Hanns was responsible for setting up the German muscular dystrophy network, MD-NET, of which he was Coordinator (jointly with Volker Straub) until 2008.  He is the scientific coordinator of EuroBioBank, a European network of biobanks for rare disorders. Before coming to Newcastle University, Hanns held the post of Consultant and subsequently Professor of Neurology and Molecular Neurogenetics at Ludwig-Maximilians-University in Munich.  He has a long-standing interest in the molecular genetics of the inherited myopathies and neuromuscular junction disorders, and his research focuses on the further study of animal models of these disorders as a means to understanding their pathophysiology, as well as to develop the means to monitor disease progression and therapeutic interventions.

Dr Stephen Lynn is Project Manager of the TREAT-NMD network and is responsible for ensuring that the network meets the targets agreed with the European Commission and that it endures beyond its 5-year EU funding. He joined TREAT-NMD in March 2007 from the British Consulate General in San Francisco, where he was Vice Consul for Science and Innovation. Stephen's background is in molecular physiology and after completing a PhD in Newcastle he did postdoctoral work at the University of California, San Francisco and at Stanford University, studying the role of oxidative stress and mitochondrial defects in the development of neurodegeneration associated with ageing.

Emma Heslop joined the TREAT-NMD network in December 2006 as TREAT-NMD assistant project manager. Within TREAT-NMD she is responsible for leading the work relating to shared activities and tools; enhancing international relations and collaborations; coordinating the TREAT-NMD Advisory Committee for Therapeutics and representing the coordination office on the Project Ethics Council.

Her background is in Health and Human Sciences and Biological Anthropology.  For six years she worked as a Project Coordinator in the Durham University Sleep Lab studying mother-infant sleep. During this time she completed her Biological Anthropology MSc (Research).
 

Rachel joined the TREAT-NMD network in February 2007 and is responsible for communications issues, including the website, printed publications and the fortnightly newsletter. Rachel has a background in chemistry and has an MChem degree and teaching qualification in chemistry. After working in Prague as a project manager for a translation company and latterly as a Czech to English medical translator, she returned to the UK to work in electronic communications and web support.

Michael joined the TREAT-NMD team in March 2009 and is responsible for maintaining and developing the TREAT-NMD website. Michael achieved his MA by comparing and combining traditional facial animation techniques with scientific data on facial expression.

He then went on the work on the Design4Science project at the University of Sunderland which promoted significant scientific discoveries within molecular biology featuring work and exhibits from several eniment scientists. On this project Michael was responsible for not only the promotional website but much of the design and content of the exhibition which was displayed in venues including Copenhagen's Medical Museum and the Nobel Museum in Stockholm.

Dr Brigitta von Rekowski joined the TREAT-NMD network in March 2008 and is the UK patient registry curator for spinal muscular atrophy (SMA), a role that will extend in the near future to registries for other neuromuscular disorders. Her responsibility is to ensure that patients' genetic and clinical information is complete and accurate, and to advise and support patients with registry-specific queries. Brigitta's background is in science and research, and she gained a degree in Mathematics and Computer Science at the Technical University of Berlin, and a PhD in Astrophysics at the University of Potsdam. She has worked on a variety of projects in academic and industrial research in Germany, Italy, England, Sweden and Scotland.

Dr Simon Woods is a bioethicist at the Policy, Ethics and Life Sciences Research Centre (PEALS). He is a member of a number of research and clinical ethics committees and has an active international research profile in medical ethics and ethics related to developments in the life sciences. He has published widely in the field and provides professional development training to health professionals and members of ethics committees. Within the TREAT-NMD project Simon chairs the Project Ethics Council and is a leader of the ethics workpackage.

Pauline McCormack works as a Research Associate with the Policy, Ethics and Life Sciences group at Newcastle University. Pauline is looking at the social and ethical issues associated with the treatment and care of neuromuscular disorders. Pauline’s background is in education where she researched and worked with ‘disadvantaged’ learners. Pauline is hoping to explore the patient voice and particularly how ideas about standards of care and quality of life differ between patients, clinicians and health professionals.  She is also interested in how far government and EC policies on ethics serve the concerns of individual citizens.

Michelle has worked in this area for nearly 20 years and prior to that worked in Rheumatology where she published her MSc on assessment in Ankylosing Spondylitis. Her PhD published in 2003 looked at the impact of nocturnal ventilation in Duchene Muscular Dystrophy. Clinically Michelle is responsible for the physiotherapy management of both children and adults with neuromuscular diseases. In particular her interests are in respiratory management, assessment, exercise and orthotics. Michelle has consulted on various research trials and is increasingly involved in the development of protocols for clinical research. She is on the steering committee for an international trial of steroids in Duchenne Muscular Dystrophy and is one of the international clinical evaluator trainers for the PTC 124 trial. Michelle is vice-chair of the Neuromuscular Group affiliated to the Chartered Society of Physiotherapy. She lectures internationally on various aspects of management in neuromuscular disease.

Doug has a long-standing research interest in patients with mitochondrial disease, particularly those who have muscle involvement (mitochondrial myopathies). Doug has particular interest in the role of exercise in treatment of mitochondrial myopathies and developing methods to prevent transmission of the mitochondrial DNA disease.

Patrick works with the Mitochondrial Research Group at Newcastle University & his research focus is mitochondria and human disease.   Recently, their research has evolved a major translational focus, working with industrial partners to develop new treatments for mitochondrial disease.  They have recently begun clinical trials in Newcastle using two agents which show great promise.

Dr Rita Barresi is the head of the Muscle Immunoanalysis Unit and the National Co-ordinator of the NCG "Diagnostic & Advisory Service for Rare Neuromuscular Diseases", which involves a consortium of centres in five different Trusts across England. Rita has an international research profile in muscular dystrophies and has published widely in the field.  She is interested in elucidating the molecular mechanisms of LGMDs and related disorders.  Ongoing work in this area is concentrating on the role of dysferlin in membrane repair and processes involved in myogenesis, such as sarcolemmal specialization, myoblast division and fusion.  

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.

Newcastle leads the National Commissioning Group (NCG) for rare neuromuscular disorders, and is specifically responsible for the LGMD diagnostic and advisory service for the whole of the country.
The Muscle Immunoanalysis Unit is the national referral centre for the diagnosis of limb-girdle muscular dystrophy (LGMDs) and works closely with the diagnostic molecular genetics unit and specialist clinicians at the Institute of Human Genetics. Also crucial is the ongoing involvement with research, since relevant disease-causing genes are still being discovered.