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.

Patrick Chinnery is a Professor of Neurogenetics. His principal interest is in the clinical and molecular basis of neurological disease, which includes the study of monogenic disorders like inherited ataxia and spastic paraparesis, and multifactorial disorders like Parkinson’s disease.

Douglas Crompton returned to the North East in 2009 having trained with Sam Berkovic in Australia. His particular interest is epilepsy genetics.

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.

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.

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.

Hanns Lochmueller is Professor of experimental myology with the Neuromuscular Research Group within the Institute of Human Genetics at Newcastle. Professor Lochmüller has a long-standing interest in the molecular genetics of inherited myopathies and neuromuscular junction disorders. He studies animal models of these disorders with a view to understanding their pathophysiology as well as developing means to monitor disease progression and therapeutic interventions. Professor Lochmüller’s ongoing work is investigating cell and animal models of muscular dystrophy and concentrates on gene transfer, pharmacological interventions and cell therapy.

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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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