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Putting an end to Variants of Uncertain Significance to make genetic medicine more informative and impactful
A barrier to fully realizing the promise of genome-guided precision medicine is the massive number of Variants of Uncertain Significance (VUS) that are identified by genetic testing. Variants are designated VUS when there is insufficient evidence to classify them as pathogenic or benign and, importantly, they can’t be used to guide clinical decisions. VUS are confusing to patients, maddening to doctors and exacerbate the gaps in genetic medicine.
The main goal of the Starita lab is to put an end to Variants of Uncertain Significance (VUS) to make genetic medicine more informative, equitable and impactful. Our lab has shown that multiplexed assays of variant effect (MAVE) can powerfully inform variant classification to move VUS to more definitive classifications. To continue toward this goal, my current research program has four main directions: 1) scaling existing MAVEs for broad application, 2) developing new MAVE technology to unlock access to new and more informative phenotypes, and 3) working with local and international partners to develop guidelines for clinical translation and 4) working with clinical partners to build resources to increase MAVE uptake in the clinic.
Our Mission
Dr. Lea Starita
University of Washington | Genome Science | Brotman Baty Institute
Dr. Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.