Research Interests

Eichler studies the origin, variation, and impact of duplicated sequences and copy number variation among humans and other primates. Developing experimental and computational approaches, his research group provided the first genome-wide view of human segmental duplications, identifying approximately 400 complex regions enriched for recently duplicated sequences. His group characterized novel duplicated gene families within the human/great ape lineages, showing that these genes experienced radical changes in expression and protein composition. He showed that the hominid genome is enriched for interspersed duplications with an excess of apparent duplication activity occurring in the common ancestor of humans and great apes. He used the duplication architecture as a roadmap to predict hotspots of genomic deletion and duplication associated with disease. Targeting these regions, he has identified and characterized multiple syndromic and non-syndromic forms of complex genetic disease associated with mental illness, epilepsy, schizophrenia, and autism. He is expanding this research to systematically investigate recurrent duplication-mediated changes in copy number in conjunction with other forms of de novo and rare inherited mutations as a model to understand the genetic architecture of neurodevelopmental disease. He hypothesizes that the disease burden of recent duplication architecture is offset by the advantage of newly minted hominid-specific genes within core segmental duplications and the increased genetic diversity that they confer (?Core Duplicon Hypothesis?).

Membership Type

Member

Election Year

2012

Primary Section

Section 26: Genetics

Secondary Section

Section 41: Medical Genetics, Hematology, and Oncology