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!
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!