Professor Katherine Bushby
Act. Res.Chair of Neuromuscular Genetics

Honorary Consultant Geneticist, Newcastle upon Tyne Hospitals NHS Foundation Trust

Joint co-ordinator, TREAT-NMD network 

Deputy Director, MRC Centre for Neuromuscular Diseases at London and Newcastle 

Vice President European Union Committee of Experts in Rare Diseases

Chair, Translational Research Committee Association Francaise contre les Myopathies

Member of Muscular Dystrophy Campaign Care and Commissioning Committee 

Co-ordinator, EUCERD Joint Action on Rare Diseases 

 

Research Interests

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 Bushby, Strauband Lochmuller are clinical academics with joint appointments between Newcastle University and the NHS. As well as providing the muscle service to patients from the Northern Region, we also lead the National Commissioning Group (NCG) for rare neuromuscular diseases, this group is headed by Dr Rita Barresi.

We have a long-standing interest in the molecular genetics of the limb-girdle muscular dystrophies and related disorders. 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. Ongoing work in this area is concentrating on the role of dysferlin and therapeutic options for this disorder where the repair mechanisms of the muscle fibre membrane may be a target for therapeutic interventions, as well as developing a greater understanding of the way that collagen VI mutations cause muscle disease.

Neuromuscular research

We have developed an extensive programme looking at modelling muscular dystrophies and the detailed assessment of animal models, including zebrafish and functional cardiac and skeletal muscle performance in mouse models of disease.

Alongside our basic research programmes in inherited muscle diseases, our group is taking an increasing interest in translational research, with programmes spanning the whole spectrum from laboratory based research to clinical trials. Examples of our clinical trial activities include leading an NIH supported bid for an international trial of corticosteroid dosage regimes in Duchenne muscular dystrophy (DMD), the use of early cardioprotection in DMD via a national bid led by Dr John Bourke from the Freeman Hospital in Newcastle, PTC for stop codon suppression in DMD and antisense oligonucleotide therapy in DMD. Dr Michelle Eagle is the specialist physiotherapist working with the group, and we have strong links with the Clinical Research Facility at the Royal Victoria Infirmary and Dr Elaine McColl’s team in the Institute of Health and Society. We are part of the MRC Centre for Neuromuscular Diseases which is a joint initiative between the Institute of Human Genetics in Newcastle and the Institute of Neurology in London, and Professor Bushby is deputy director of the centre.

Translational efforts in these rare disorders will inevitably have an international context. Professors Bushby and Straub led a European Union Network of Excellence for the development of translational research in rare neuromuscular diseases (TREAT-NMD, www.treat-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. The TREAT-NMD alliance is now managed by an Executive Committee supported by a secretariat at Newcastle, for which Professors Bushby and Straub provide academic support. 

Within the rare disease field, Professor Bushby is now vice chair of the European Union Committee of Experts on Rare Diseases (EUCERD, www.eucerd.eu) which as a remit to support member states in the development of rare disease strategies. Professor Bushby also leads the EUCERD Joint Action on Rare Diseases.  

Co-workers

Debbie Hicks BSc PhD
Faculty Fellow

Stephen Lynn PhD
TREAT-NMD and EUCERD Joint Action Project Manager

Brigitta von Rekowski and Karen Bettinson
Jain Foundation Clinical Outcome study 

Michela Guglieri
NIH funded trial of corticosteroids in DMD