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Neurological and Neuromuscular Genetics

Translational research in neurological and neuromuscular diseases has always held a prominent role at Newcastle University and within the Institute of Genetic Medicine. This ambitious research programme receives support from the National Institute for Health Research, the Wellcome Trust and the Medical Research Council. In recognition of their groundbreaking work, the Newcastle group together with University College London was successfully granted MRC centre status to focus on the translational aspects of neuromuscular research and to provide a cross-discipline grouping of clinicians and scientists with a wide range of expertise and interests.

Professors Kate Bushby, Volker Straub and Hanns Lochmüller are leading clinical scientists working together with other local researchers such as Dr. Steve Laval on diagnostics, research and standards of care for genetic muscle disease. The neuromuscular group has received significant support from the European Union for organising a successful international collaboration to develop and introduce novel treatments for neuromuscular disorders (TREAT NMD).

Professor Patrick F. Chinnery, Dr. Rita Horvath and Dr. Patrick Yu-Wai-Man are principal investigators within the Wellcome Trust Centre for Mitochondrial Research, working on different aspects of neurogenetic and neuro-ophthalmological disorders. In addition to research on the mitochondrial encephalomyopathies, their clinical and genetic research embraces a variety of other neurodegenerative diseases affecting the brain, visual pathways and peripheral nerves (cerebellar ataxias, optic neuropathies, spastic paraplegias and peripheral neuropathies). This comprehensive service also provides patients access to specialised genetic investigations, including next-generation exome sequencing, with additional support provided by trained genetic counsellors. The role of stem cells, as a possible factor to study and influence the manifestation of neurodegenerative diseases, is being led by Professor Maya Sieber-Blum`s group.

Key researchers

Neurological genetics
Neuromuscular genetics