Neurological and Neuromuscular genetics
Translational research in neurogenetic/neuromuscular diseases traditionally plays a strong role at Newcastle University and at the Institute of Human Genetics, and receives support from the Medical Research Council as a part of the MRC Centre for Neuromuscular Diseases. Newcastle together with University College London has obtained MRC centre status, focussing on translational aspects of neuromuscular disease research and providing a cross-discipline grouping of clinicians and scientists with a wide range of experience and interests.
Professors Kate Bushby, Volker Straub and Hanns Lochmüller are leading clinical scientists working together with researchers as Dr. Steve Laval on diagnostics, research and standards of care of genetic muscle disease (Muscle Group), and received significant support from the European Union for organising a successful international collaboration to develop and introduce novel treatments for neuromuscular conditions (TREAT NMD).
Professor Patrick F. Chinnery, Dr. Rita Horvath and Dr. Doug Crompton are working on different aspects of neurogenetic disease. In addition to research in mitochondrial encephalomyopathies within the Mitochondrial Research Group (MRG), their clinical and genetic research embraces a variety of genetic disorders affecting the brain and peripheral nerves (cerebellar ataxias, peripheral neuropathies, epilepsies, hereditary spastic paraplegia). The role of stem cells, as a possible factor to study and influence the manifestation of neurodegenerative diseases is performed by Professor Maya Sieber-Blum`s group.
Key researchers:
Dr Rita Barresi - Molecular mechanisms of limb-girdle muscular dystrophies
Dr Juliane Müller - Congenital myasthenic syndromes
Neurological genetics
Professor Patrick Chinnery - Neurogenetics - Mitochondria and human disease
Dr Doug Crompton - Genetics of epilepsy
Dr Rita Horvath - Mitochondrial genetics
Professor Maya Sieber-Blum - Mechanisms of neural crest stem cell differentiation
Neuromuscular genetics
Professor Kate Bushby - Neuromuscular research
Dr. Steve Laval
Professor Hanns Lochmuller - Neuromuscular research
Professor Volker Straub - Neuromuscular research
