The group studies patients' and relatives' genomes to identify causes of genetic disease or predisposition, with the long-term goal of identifying and validating medical interventions based on genomic analysis to improve health outcomes. Research has two axes: identifying causes and mechanisms of genetic disease through gene discovery in patient cohorts using whole exome or genome sequencing, with validation in zebrafish using CRISPR-Cas9; and identifying and mitigating predisposition to common disease through high-throughput correlation of clinical data with genomic data in large patient cohorts, followed by retrospective study of candidate medical interventions and environmental changes to compare outcomes in genomically stratified patient groups.