![]() ![]() Ironically, we now avoid that term, and instead simply refer to prion disease. The particular subtype of prion disease associated with Sonia’s mutation is often called fatal familial insomnia (FFI). The name of this blog is a throwback to how we were first introduced to this disease. So if you look at posts from 2012 or even 2013, and think, “this guy doesn’t know what he’s talking about”, it’s true - I didn’t! Now I’m a PhD in biology, but I still get lots of things wrong. When I started, I had no biology training at all. Soon, this blog became half of my brain, the place where I store my notes, thoughts, speculations, the place where I publicly struggle through trying to understand this disease. I, Sonia, and some friends started this blog in January 2012, just weeks after getting her genetic diagnosis, as a way to share what we were learning with one another. While our journey is far from over, we now have a plan for how we can develop a preventive drug for prion disease. We have found our scientific home at the Broad Institute of MIT and Harvard, where live what once seemed an impossible dream: to wake up each day and work, side by side, on trying to cure Sonia’s disease. ![]() We left our old careers and found jobs in research labs, and eventually enrolled at Harvard Medical School, where we recently defended our PhDs in Biological and Biomedical Sciences. We both started taking night classes, reading papers, calling up scientists, going to conferences. Sonia and I set out on a quest to re-train ourselves as scientists. The mean age of disease onset for her mutation is around 50, and the mutation is highly penetrant, meaning she is exceptionally likely to develop the disease unless a treatment or cure is found. My wife and the love of my life, Sonia Vallabh, tested positive for a mutation ( PRNP D178N) that causes genetic prion disease, and that had claimed her mother’s life one year earlier. and was working as a software engineer and data analyst in the transportation sector when, in December 2011, I got some bad news. I originally trained as a city planner at M.I.T. My name is Eric Vallabh Minikel and I’m on a lifelong quest to prevent prion disease. ![]()
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