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Naturally occurring genetic variation that prevents prion disease is identified

BMJ 2015; 350 doi: (Published 12 June 2015) Cite this as: BMJ 2015;350:h3186
  1. Jacqui Wise
  1. 1London

A naturally occurring variant of the human prion protein that produces complete resistance to prion diseases such as Creutzfeldt-Jakob disease (CJD) has been identified. The researchers said that the findings, published in Nature, could provide important insights into dementia and help to guide research into new treatments.1

For many years researchers from the Medical Research Council’s prion unit have been studying a prion disease called kuru, which was once widespread in a remote area of Papua New Guinea. People of …

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