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A patient-scientist’s road toward primary prevention in genetic prion disease

Air date: Wednesday, December 4, 2019, 3:00:00 PM
Time displayed is Eastern Time, Washington DC Local
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Description: NIH Director's Wednesday Afternoon Lecture Series

In 2010, Sonia Vallabh watched her 52 year old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, Sonia learned that her mother's disease had been genetic prion disease, and that she herself had inherited the causal mutation, making it very likely she would suffer the same fate in 20 years' time. There was no prevention, treatment, or cure available. Despite having no prior training in biology, Sonia and her husband Eric Minikel set out to re-train themselves as scientists and devote their lives to searching for a treatment or cure for her disease. They quit their jobs in consulting, started a scientific blog, began taking night classes and attending conferences, found new jobs in research labs, and eventually earned PhDs in biomedical research at Harvard. They are now scientists at the Broad Institute of MIT and Harvard, where their research focuses on biomarker development and preclinical therapeutic testing, all oriented around the goal of primary prevention of prion disease.

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Author: Sonia Vallabh, J.D., Ph.D., Broad Institute, MIT & Harvard University and Eric Minikel, Ph.D., Broad Institute, MIT & Harvard University
Runtime: 1 hour