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Science AMA series: Hi, I’m Sonia Vallabh and this is Eric Minikel. We’re a husband-wife science team on a quest to cure my own genetic disease before it kills me. AUA!
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Prion_Alliance

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Abstract

Hi Reddit! In 2010, we watched Sonia’s mom die of a rapid, mysterious neurodegenerative disease that baffled her doctors. After her death, we learned that it had been a genetic prion disease, and Sonia was at 50/50 risk. We got genetic testing and learned, in late 2011, that Sonia had inherited the lethal mutation, meaning that unless a treatment or cure is developed, she’s very likely to suffer the same fate, probably by about age 50. After learning this information, we abandoned our old careers in law and city planning, and threw ourselves headfirst into re-training as scientists. Four years later, we’re both Harvard biology PhD students, and we work side-by-side Stuart Schreiber’s lab at the Broad Institute, where we are researching therapeutics for prion disease. A husband and wife’s race to cure her fatal genetic disease, Kathleen Burge, Boston Globe Magazine, February 17, 2016 Insomnia that kills, Aimee Swartz, The Atlantic, February 5, 2015 Computer scientist makes prion advance, Erika Check Hayden, Nature News, October 2, 2014 A prion love story, D.T. Max, The New Yorker, September 27, 2013 We’ll be back at 1 pm EST (10 am PST, 6 pm UTC) to answer your questions, ask us anything! Update: Hi Reddit, we’re going to officially sign off but just wanted to say thank you so much. Four and half years ago, we never would have imagined people taking such an interest in our cause, or our career changes, or this uphill battle we are fighting. It’s humbling to have so many people out there pulling for us. Hopefully this story has many chapters to come. Thank you!