Vallabh, S. M. The Patient-Scientist’s Mandate. N. Engl. J. Med. 382, 107–109 (2020).
Vallabh, S. M., Minikel, E. V., Schreiber, S. L. & Lander, E. S. Towards a treatment for genetic prion disease: trials and biomarkers. The Lancet Neurology 19, 361–368 (2020).
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Sonia Vallabh, Ph.D.
Sonia Vallabh co-leads the initiative to develop preventive drugs for prion disease at the Broad Institute. She comes to this work with a personal mission. In 2010, Vallabh watched her 52-year-old mother die of a rapid, mysterious, undiagnosed dementia. One year later, Vallabh learned that her mother’s disease had been genetic prion disease, and that she herself was at risk. Vallabh underwent predictive genetic testing and learned that she had inherited the causal mutation, placing her at very high risk of developing the same disease. There was no prevention, treatment, or cure available. Vallabh quit her previous career in law and consulting, and, together with her husband, Eric Minikel, re-trained as a scientist in order to devote her life to finding a way to stop her disease before it starts.
At the Broad, Vallabh is focused on developing preventive drugs for prion disease. Lowering of prion protein (PrP) is a genetically well-validated strategy for delaying the onset of prion disease, and it lends itself to measurement of PrP as a biomarker available before the disease process has begun. Vallabh is working on the discovery and preclinical development of PrP-lowering drugs, credentialing of PrP in cerebrospinal fluid as a pharmacodynamic biomarker for such drugs, and establishment of a clinical pathway for preventive drug development. She co-leads a natural history study at Massachusetts General Hospital devoted to the assessment of fluid biomarkers in individuals at risk for genetic prion disease, and helped to launch the Prion Registry to promote and enable research participation in her community.
Vallabh holds a B.A. from Swarthmore College, a J.D. from Harvard Law School, and a Ph.D. in Biological and Biomedical Sciences from Harvard University. She trained in Stuart Schreiber’s laboratory at the Broad. In 2016, she served as a patient representative in the White House Precision Medicine Initiative. Her story has been told in The New Yorker, NPR, and WIRED.