New study quantifies genetic prion disease risk
It’s been just over four years since Sonia and I received her genetic test results showing that she had inherited a fatal mutation from her mother. We wanted to know how high her disease risk was, and when we didn’t find a satisfying answer in the scientific literature, we set out to answer it ourselves. I’m proud to announce that our findings were published this afternoon, and you can now read:
- The research paper, Quantifying prion disease penetrance using large population control cohorts
- A perspective by Dr. Robert C. Green, including the story of how our work changed one patient’s prognosis: “Big Data” gets personal
- My blog post telling the backstory behind the paper: Does this mean I’ll definitely get the disease?
About Eric Vallabh Minikel
Eric Vallabh Minikel is on a lifelong quest to cure human prion disease. He is co-founder of Prion Alliance, and a scientist at the Broad Institute of MIT and Harvard.
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