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Senior Genetics Researcher/Principal Investigator
The Genomics, Ethics, and Translational Research Program within RTI International conducts translational genetics and genomics research with a focus on rare diseases in newborns and young children, and the impact on children and families Our work aims to translate basic science discoveries into clinical and public health practice. Our long-standing statewide newborn screening study, Early Check (https://earlycheck.org/), was initiated to offer families the choice to identify rare conditions early, often before symptom onset, and reduce the diagnostic odyssey. We currently screen for a large panel of conditions using whole genome sequencing and have screened over 1,200 newborns since Fall 2023. We are see


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