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Dr Simon Mead
306b
Institute of Neurology
Queen Square
London
WC1N 3BG
Appointment
  • Programme Leader
  • MRC Prion Unit at UCL
  • UCL Institute of Prion Diseases
  • Faculty of Brain Sciences
Biography

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, UCLH. Also working at the UK Medical Research Council’s Prion Unit, his research interests include clinical studies of CJD and other human prion diseases, the discovery of genetic and epigenetic factors that cause or modify prion disease and the development of treatments for prion disease. He was made a Professor at UCL in 2014.

Research Summary

Prions, composed of abnormally folded multimers of host-encoded prion protein, cause fatal neurodegenerative conditions. They are seen as a model neurodegenerative condition, a group of disorders that represent a great challenge to healthcare systems in aging societies. Molecular genetics remains fundamental to understanding the aetiology of human prion disease.

Here are some examples of our groups work:

Human genetics has established the central importance of prion protein gene mutations and polymorphisms in human disease susceptibility, phenotypic modification and recent human evolution. Information about several genetic variants of the prion protein gene is now used in routine diagnosis of inherited prion disease. We lead global sample collections in prion disease and by genome wide association studies are discovering new genetic risk factors. In other neurodegenerative diseases we collaborate and contribute samples to the leading efforts world-wide, some of these studies are landmarks in the field and were headline news stories around the world (Nat Genetics, Lancet Neurology). We have also assembled a global collaboration in posterior cortical atrophy (a clinical variant of Alzheimer's disease, Alzheimer's and Dementia).

We also work on human evolution as the prion disease kuru, transmitted by cannibalism can occur in epidemics that cause intense selection pressure. We have described one of only a handful of examples of human evolutionary selection acting at a specific gene variant G127V in PRNP (NEJM 2009). Modelled in mouse, this change results in complete protection against prion disease (Nature 2015).

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 (AJHG).

In 2013 we reported a novel inherited prion disease called PrP systemic amyloidosis associated with diarrhoea and deposits of prion protein in all organs (NEJM). The mutation that causes this disease removes the membrane anchor and truncates prion protein, emphasising the importance of this structure in the disease phenotype.

We have developed a next generation sequencing panel for dementia which we call the MRC Dementia Gene Panel (Neurobiol Aging), we have applied this in over 3200 samples and looked at the clinical and in silico predictors of carrying deleterious mutations in any of 17 dementia genes.

More recently following the recruitment of Dr Emmanuelle Vire, an accomplished scientist with experience in cancer biology, we have started to work on epigenetics, meaning the study of dynamic chemical and structural changes in chromatin associated with persistently altered gene expression. We are assaying these changes genome wide in human and animal prion diseases, blood, brain and lymphoreticular tissue, to develop diagnostic tools and uncover molecular mechanisms.

We integrate our GWAS, epigenetic and animal work to identify the networks and pathways involved in human prion disease together with the help of Dr Holger Hummerich, senior bioinformatician.

Teaching Summary

Simon supervises PhD and Masters students and lectures on several courses. In prion disease he has developed educational web resources (www.nationalprionclinic.org). At UCL he mentors neurologists and neurosurgeons on NIHR training pathways. He has co-written several textbooks and review articles about prion diseases. 

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