Honorary Consultant in Neuromuscular Genetics, Newcastle upon Tyne Hospitals NHS Foundation Trust.
Neuromuscular research

The neuromuscular research group within the Institute of Human Genetics is a multidisciplinary team involving clinically based as well as laboratory researchers. Professors Straub and Bushby (see separate entries), both clinical academics with joint appointments between Newcastle University and the NHS, were joined by Professor Lochmüller, Chair of experimental myology in July 2007. Together with Professor Chinnery and Professor Turnbull they form the Newcastle branch of the MRC centre for neuromuscular disease.
Professor Lochmüller has a long-standing interest in the molecular genetics of the inherited myopathies and neuromuscular junction disorders, and is interested in the further study of animal models of these disorders as a means to understand their pathophysiology as well as to develop means to monitor disease progression and therapeutic interventions. Ongoing work in these areas in cell and animal models of muscular dystrophy is concentrating on gene transfer, pharmacological interventions and cell therapy.

Translational efforts in these rare disorders will inevitably have an international context. Professors Straub and Bushby are co-ordinating a European Union Network of Excellence for the development of translational research in rare neuromuscular diseases (TREAT-NMD), www.trea-nmd.eu with 21 partners in 12 countries, including national networks, clinical and research centres, charities and companies. The aim of the network is to reduce fragmentation of efforts in this area, thereby accelerating the progress of promising therapeutic targets into clinical practice.
Professor Lochmüller is the scientific coordinator of EuroBioBank www.eurobiobank.org, a European network of biobanks for rare disorders. The network is currently composed of 14 members from 7 European countries including 11 academic or private biobanks and Eurordis (European Organisation for Rare Diseases) who initiated and coordinates the network. Rare diseases are devastating and patients urgently need treatments and better care. By creating a critical mass of collections and facilitating the exchange of biological material, the EuroBioBank network helps accelerate future research progress on these diseases.
Professor Lochmüller is currently carrying out research funded by the Medical Research Council (MRC), the Muscular Dystrophy Campaign (MDC) and the Lundbeck Foundation. The work of the team is supported by the EU, the Muscular Dystrophy Campaign, Action Medical Research, the Association Francaise contre les Myopathies, the British Heart Foundation, the NIH, the Jain Foundation, the Department of Health and the MRC.
Steve Laval BSc PhD
Scientific Officer
Dr Juliane Müller
Research Fellow
Dr Louise Jørgensen
Research Associate
Morten Ritso
MRes student
Mojgan Reza
Biobank Technician
Dr Brigitta von Rekowski
TREAT-NMD Registries Curator