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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. The Prions@Broad initiative was born when Dr. Stuart Schreiber invited Sonia and Eric, now PhD students in biomedical research at Harvard Medical School, to join his laboratory at the Broad Institute in order to combine the Schreiber Lab's expertise in chemical biology and drug discovery with their own focus on prion disease. In our unique model for precision medicine research, these two personally motivated patient-scientists with their disease-specific focus are embedded within a group 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. Sonia Vallabh is supported by a Graduate Research Fellowship from the National Science Foundation.

Prions@Broad holds regular meetings to discuss experimental strategies, new data, and recent discoveries in the prion field, and invites guest speakers to discuss prion biology and therapeutic discovery. Members of the wider Broad community, including Harvard, MIT, and the affiliated hospitals, are invited to join the Prions@Broad mailing list in order to be notified of meeting times and locations. The general public can follow the current research directions of Prions@Broad by staying tuned to Eric Minikel's prion biology blog,

To learn more, please see the articles below: