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- Honorary Professor
- Institute of Neurology
- Faculty of Brain Sciences
After medical training at Cambridge and Oxford Universities and a PhD in the genetics of prion diseases at Imperial College London, Simon Mead is a consultant neurologist and Clinical Lead of the UK National Prion Clinic based at the National Hospital for Neurology and Neurosurgery. Also working at the UK Medical Research Council’s Prion Unit, his research interests include clinical studies of CJD or prion disease patients, the discovery of genetic factors that cause or influence prion disease and the development of treatments for prion disease based on antibodies. He was made an Honorary Professor at UCL in 2014.
Prions, composed of abnormally folded multimers of host-encoded prion protein, cause fatal neurodegenerative conditions. They are increasing seen as a model neurodegenerative condition, a group of disorders that represent a great challenge to healthcare systems. Molecular genetics remains fundamental to understanding the aetiology of human prion disease. My Programme has established the central importance of PRNP polymorphisms in human disease susceptibility, phenotypic modification and recent human evolution. We have published in Science, Nature, Lancet Neurology, Nature Genetics and NEJM. Information about several causal genetic variants of the prion protein gene is used in routine diagnosis of inherited prion disease. We described one of only a handful of examples of human evolutionary selection acting at a specific gene variant (NEJM 2009). Large sample collections in neurodegeneration contribute to leading genome wide association studies, some of these studies are landmarks in the field and were headline news stories around the world (Nat Genetics, Lancet Neurology). We lead global collaborations in prion disease and posterior cortical atrophy (a clinical variant of Alzheimer's disease). For several genes causal of dementia, including PRNP, GRN, C9orf72, TREM2, we have reported evidence of the associated disease phenotypes, allowing for improved clinical recognition. We overcame a technical hurdle in Southern blotting of the C9orf72 expansion mutation allowing for an improved diagnostic assay. In 2013 we reported (in NEJM) a novel inherited prion disease associated with diarrhoea and deposits of prion protein in all organs. We are now working on next generation sequencing projects for gene discovery and the development of tools to improve genetic diagnosis in dementia: the MRC Dementia Gene Panel (Neurobiol Aging).
Simon supervises PhD and Masters students and lectures on several courses. In prion disease he has developed educational web resources (www.nationalprionclinic.org) and an iphone App. At UCL he mentors neurologists and neurosurgeons on NIHR training pathways. He has co-written several textbooks and review articles about prion diseases.