Evan Eichler is interested in the evolution, pathology, and mechanisms behind recent gene duplication and copy number variation within the human genome. Specifically, Eichler and his team want to understand the functional and structural impacts of segmental duplications that give rise to new genes and recurrent rearrangements associated with neurodevelopmental delay. Using computational and experimental approaches, the team is working to address such questions as: How did this architecture of duplications evolve in humans, and what is the underlying mechanism? To what extent do they contribute to disease and phenotypic differences? And, how does the human duplication structure compare to that of apes and other mammals?
Twenty years after scientists first reported reading the human genome, the Telomere-to-Telomere consortium has now unveiled a complete version. Their work uncovered hundreds of new genes and opens the door to new insights into evolution and disease. Four HHMI investigators have been elected to membership in the National Academy of Medicine, an organization that honors professional achievement in the health sciences. An analysis of the complete genomes of 2,064 people reveals that multiple genetic variations could contribute to autism. The work suggests that scanning whole genomes may one day be useful for clinical diagnostics. Fourteen HHMI scientists are among 84 newly elected members. Many of the most severe mutations identified in patients with autism affected proteins that work together in one large interconnected network. People who lack a certain large segment of DNA have a previously unrecognized syndrome characterized by mental retardation, seizures, and slight physical abnormalities.