Neurogenetics Group

Major University investment has underpinned the rapid recent expansion of the IGM research portfolio, which is focussed on delivering high-quality outputs of major biological and clinical significance.

Underpinning these achievements is a simple concept laid down by the founding Directors Tom Strachan and John Burn, of a “partnership between clinical genetics and basic human molecular and developmental genetics, coupled with a determination to strive always for excellence.” Under their leadership, the IGM grew exponentially to a critical mass of 33 principal investigators including 18 professors in 2009. Neurogenetics is a major component of the IGM, which now has Professor Patrick Chinnery, Consultant Neurologist, as its Director.

Principle Investigators

Professor Sir John Burn is Lead Clinician for the North East NHS Strategic Health Authority (now NHS North East), Chair of the Genetics Speciality Group, NIHR, Innovation Group Chair HGSG and Chair elect of the BSHG. In 2001 John’s team identified the condition neuroferritinopathy and have subsequently begun exploration of early therapeutic interventions.

Rita Barresi is the head of the Muscle Immunoanalysis Unit at Newcastle, which is the national referral centre for the diagnosis of limb-girdle muscular dystrophy (LGMDs). She has an international research profile in muscular dystrophies and has published widely in the field. She investigates the molecular mechanisms of LGMDs and related disorders with a view to finding new therapeutic options and guiding mutation analysis, genetic counselling and patient management. She works closely with Dr Richard Charlton.

Rita Horvath After graduating from the Semmelweis Medical University, Dr Horvath completed her clinical training in neurology in Budapest, Hungary. She started clinical research in mitochondrial disease in 1995 when she received a fellowship from the Soros Foundation to work in Professor Eric Shoubridge’s laboratory in Montreal, which was the basis of her PhD in 2000.


Katie Bushby is a clinical academic, member of the Neuromuscular Research Group within the Institute of Human Genetics and plays a leading role in the National Commissioning Group (NCG) for rare neuromuscular diseases. Her team has 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.

Andrew Schaefer helps run the Newcastle Mitochondrial Clinic and the clinical service for our patients. Research interests include the importance of understanding the natural history of the mitochondrial disorders, phenotype-genotype correlations and determining best clinical practice. To this end I have previously published on the prevalence of the mitochondrial disorders, the development of a clinical rating scale to assess both disease progression and response to treatment, and am clinical lead on the development of best practice guidelines in mitochondrial disease.

Volker Straub is an Institute of Human Genetics executive board member, an executive board member of the World Muscle Society and the R&D Director of the North Tees and Hartlepool NHS Foundation Trust. He has a long-standing interest in the pathogenesis of muscular dystrophies. Professor Straub is helping to coordinate a network of excellence for translational research in rare inherited neuromuscular diseases funded by the European Commission that aims to accelerate the development of curative treatments for patients with neuromuscular diseases.

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