Precision Medicine

U of U has a long tradition of precision medicine discovery. DBMI’s strengths in individualized decision support systems, FHIR interface to the EHR, and genomic medicine synergize to create one of the best leading-edge translational research and clinical application environments for broad training opportunities for the next generation of precision medicine informaticians. At the precision genomic end,

• BRCA2 was discovered by Drs. Sean Tavtigian and Mark Skolnick (former DBMI Professor)

• Dr. Mark Yandell first characterized the variants of the Ogden Syndrome variants

• Dr. Yves Lussier computationally identified and biologically validated the microRNAs underpinning oligometastatic vs polymetastatic progression of multiple cancers. Lussier's group later pioneered single-subject studies and n-of-1 trials methods, demonstrated their utility for precision transcriptomics in vitro, and interpretable Machine Learning in a prospective therapeutic trial, and more recently for analysis of small cohorts underpowered for conventional general linear models

• Dr. Karen Eilbeck established Sequence Ontology (SO), and in partnership with Drs. Kensaku Kawamoto and Guilherme Del Fiol defined the requirements for sequences to be used in CDS

On the clinical side,

• Drs. Guilherme Del Fiol and Kensaku Kawamoto have been funded for developing individualized decision support in a dozen clinical conditions and more recently for incorporating clinically-relevant genetics findings in these algorithms as well