Minikel, E. V. et al. Quantifying prion disease penetrance using large population control cohorts. Sci. Transl. Med. 8, 322ra9 (2016).
Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
Minikel, E. V. et al. Age of onset in genetic prion disease and the design of preventive clinical trials. bioRxiv (2018). doi:10.1101/401406
Minikel, E. V. et al. Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry. bioRxiv 591487 (2019). doi:10.1101/591487
Minikel, E. V. et al. Evaluating potential drug targets through human loss-of-function genetic variation. bioRxiv 530881 (2019). doi:10.1101/530881
Eric Minikel, Ph.D.
Eric Minikel co-leads the initiative to develop preventive drugs for prion disease at the Broad Institute. In prion disease, his research spans therapeutic discovery, preclinical development, and clinical biomarker and natural history research. He also studies the genetics of prion and other neurodegenerative diseases, and the application of human genomic datasets to disease epidemiology and drug target validation. His blog, CureFFI.org, covers topics ranging from prion biology to genomics to drug development.
Minikel left a previous career in consulting after learning, in late 2011, that his wife, Sonia Vallabh, inherited a fatal genetic mutation in the prion protein gene. He followed her in changing careers and re-training as a scientist to devote his life to developing a cure. Minikel has led international data aggregation consortia to quantify lifetime risk and age of onset in genetic prion disease. He has contributed to the development of cerebrospinal fluid prion protein as a biomarker for prion disease therapeutics and is involved in the preclinical development of antisense oligonucleotides to lower prion protein. As a member of the Genome Aggregation Database analysis team, Minikel developed methods for using population genetic data to assess the pathogenicity of reportedly disease-causing genetic variants and for using loss-of-function variants to evaluate candidate drug targets.
Minikel holds a B.S. in Chinese language and literature from the University of Wisconsin Madison, a dual M.S. in city planning and transportation from Massachusetts Institute of Technology, and a Ph.D. in biological and biomedical sciences from Harvard University. He trained at Broad in the laboratories of Daniel MacArthur and Stuart Schreiber.