The Prions@Broad initiative seeks to advance the discovery of therapeutics for human prion diseases. Prion diseases are neurodegenerative diseases caused by the accumulation of misfolded proteins in the brain. These disorders, known by various names including Creutzfeldt-Jakob disease, fatal familial insomnia, and Gerstmann-Straussler-Scheinker disease, are uniformly fatal and, at present, completely untreatable. Prion disease spreads throughout the brain because it is caused by a protein with the ability to catalyze its own toxic misfolding. This mechanism of disease was once thought to be unique in all of biology, but it is now recognized that prion diseases are model neurodegenerative diseases, as mounting evidence indicates that the fundamental mechanism of templated protein misfolding is shared among diverse disorders including Alzheimer's disease and Parkinson's disease.
Launched in Fall 2015, Prions@Broad represents an innovative new model for rare disease drug discovery. Sonia Vallabh and Eric Minikel changed careers to become scientists and devote their lives to prion therapeutics after learning, in December 2011, that Sonia had inherited a fatal genetic mutation in the prion protein gene from her late mother. In our unique model for precision medicine research, these two personally motivated patient-scientists with their disease-specific focus are embedded within a department and an institute equipped with the tools and expertise needed to enable therapeutic discovery.
Prions@Broad was established with generous seed funding from BroadIgnite, an initiative allowing philanthropists to engage with and support early-career scientists. The general public can follow the current research directions of Prions@Broad by staying tuned to Eric Minikel's prion biology blog, CureFFI.org.