Institute of Genetic Medicine

Staff Profile

Professor Hanns Lochmuller

Professor of Experimental Myology


Roles and Responsibilities

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

Chair, TREAT-NMD Alliance Executive Committee

Chair, IRDiRC Interdisciplinary Scientific Committee

Coordinator, RD-Connect 


Co-PI of the UK Medical Research Council's Centre for Neuromuscular Diseases




Research Interests

Neuromuscular and rare disease research

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. In partnership with the Institutes of Neurology and Child Health at University College London, the Newcastle neuromuscular centre was selected to be part of the UK Medical Research Council’s first translational research centre for neuromuscular diseases,  an initiative which aims to promote multidisciplinary translational research activity in these diseases. 

The centre is a globally leading neuromuscular clinical trial site involved in multiple industry-sponsored trials and is coordinating the European arm of the largest ever neuromuscular trial, an NIH-funded trial on steroid dosing regimes in Duchenne muscular dystrophy involving 60 centres. 

It is also highly active internationally in rare disease and neuromuscular networking and healthcare policy initiatives. Since 2012 it has coordinated the EUCERD Joint Action on Rare Diseases, responsible for aiding the European Commission with the preparation and implementation of Community activities in the field of rare diseases. It also formerly coordinated and still plays a leading role in the Neuromuscular Network of Excellence TREAT-NMD. Staff have also been in key roles in other European projects, including BIO-NMDCARE-NMDNMD-Chip and EuroBioBank.

A recent success for the team was the award of substantial funding from the European Union for cutting-edge "omics science" projects in rare diseases. In a total award of 38 million Euros distributed to research institutions across Europe and beyond, the EU aimed to catalyse research towards new treatments and initiate the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects.

Within this exciting new development the Newcastle team is engaged in scientific research into muscular dystrophies and congenital myasthenic syndromes in the Neuromics project, and is coordinating the development of a global rare disease research infrastructure in RD-Connect. In this six-year project, which is coordinated by Hanns Lochmüller, an integrated research platform will be developed in which complete clinical profiles are combined with omics data and sample availability in a central resource for researchers worldwide.


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. His team's ongoing work in these areas in cell and animal models of muscular dystrophy is concentrating on gene transfer, pharmacological interventions and cell therapy.

Neuromuscular research


Professor Lochmüller is a former scientific coordinator of EuroBioBank, 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.

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.