Genetic Risk of Prion Disease Reevaluated, Thanks to Big Data (IMAGE)
Caption
Patient empowerment and unconventional activism. A physician explains the concept of penetrance to a patient and informs her that she has a pathogenic mutation that will result in a rare, incurable and fatal genetic disorder. The patient ponders her fate and, and in a rare form of patient activism, becomes a medical genomics researcher dedicated to seeking new treatments for her disease. This material relates to a paper that appeared in the Jan. 20, 2016, issue of Science Translational Medicine, published by AAAS. The paper, by Eric Vallabh Minikel at Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard in Cambridge, MA, and colleagues was titled, "Quantifying prion disease penetrance using large population control cohorts."
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Heather McDonald / <i>Science Translational Medicine</i>
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