We learned in December 2011 that Sonia carries the D178N 129M mutation that causes fatal familial insomnia, a genetic prion disease. Since then, we've launched a personal quest to cure prion diseases. We changed our careers to become scientists, started a scientific blog, CureFFI.org and a non-profit research foundation, Prion Alliance.
Our collaborators for this project have been in this field much longer. Dr. James Mastrianni at University of Chicago, as both a neurologist and a researcher, studies the pathogenesis of prion diseases from the molecular level to the clinic. He is an expert on genetic prion diseases and developed the GSS mouse model that we will use in this study and has conducted previous therapeutic trials using this model. Dr. Armin Giese at Ludwig Maximilian University of Munich has studied the biochemistry and cell biology of prions for two decades. For the past ten years he has led high-throughput screening and lead development efforts for anti-prion compounds, culminating in the recent invention of anle138b.