FocusPrion Disease

“Big data” gets personal

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Science Translational Medicine  20 Jan 2016:
Vol. 8, Issue 322, pp. 322fs3
DOI: 10.1126/scitranslmed.aad9460


  • 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.

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