Evan Eichler studies genome evolution and mechanisms of recent gene duplication in the human genome, as well as their impact on genome instability and emergence of new gene function. He develops methods for systematically identifying these variants and assessing their association with phenotypic differences. His main contributions include the characterization of segmental duplications and human copy number variation, the elucidation of gene networks and de novo mutations important in autism, and the identification of mutations including structural variants in developmental disorders. He is an investigator with the Howard Hughes Medical Institute and a member of the National Academy of Sciences.