Eichler Lab

Eichler Lab
Name	Eichler Lab
Director	Evan E. Eichler
Institution	University of Washington School of Medicine
Location	Seattle, Washington
Established	1990s
Focus	Human genomics, structural variation, comparative genomics

Eichler Lab

The Eichler Lab is a research laboratory led by geneticist Evan E. Eichler at the University of Washington School of Medicine, specializing in human genomics, segmental duplication, and structural variation. The laboratory integrates experimental genomics, computational biology, and comparative approaches to study genome architecture across primates and humans, contributing to projects such as the Human Genome Project, the 1000 Genomes Project, and efforts in primate genome sequencing.

History

The laboratory traces its intellectual roots to work on the Human Genome Project, early studies of segmental duplication in the human genome, and collaborations with groups involved in the National Human Genome Research Institute initiatives. Its founder, Evan E. Eichler, trained under mentors connected to institutions like Washington University in St. Louis and research programs supported by the Howard Hughes Medical Institute and the National Institutes of Health. Over time the lab became associated with large consortia including the 1000 Genomes Project, the Genome Reference Consortium, and international primate genome efforts such as the Great Ape Genome Project.

Research Focus

The lab concentrates on the mechanisms and consequences of genomic structural variation, including research on duplications, copy-number variation, and complex rearrangements implicated in disorders such as autism spectrum disorder, schizophrenia, and rare developmental syndromes first described in clinical genetics literature. It applies long-read sequencing technologies from platforms developed by companies like Pacific Biosciences and Oxford Nanopore Technologies and integrates mapping approaches from groups such as the Broad Institute and the Wellcome Sanger Institute. Comparative genomics efforts include sequencing and analysis of genomes from primates including chimpanzee, gorilla, orangutan, and other species sampled in projects associated with the Primate Genomes Project.

Notable Findings and Publications

The lab published influential studies characterizing human-specific segmental duplications, mapping breakpoints of recurrent genomic disorders cataloged in databases maintained by the ClinVar and described in clinical resources affiliated with the American College of Medical Genetics and Genomics. Notable publications include contributions to updated assemblies of the human reference genome and discoveries of structural variants affecting gene families such as the SRGAP2 duplications linked to neurodevelopment and the NOTCH2NL gene family implicated in cortical development. The group has coauthored papers with investigators from the National Human Genome Research Institute, the Max Planck Institute for Evolutionary Anthropology, and the Sanger Centre documenting complex loci, segmental duplication–mediated rearrangements, and the role of duplications in human evolution.

Collaborations and Funding

The lab is embedded in collaborative networks with university departments such as the Department of Genome Sciences at the University of Washington, research centers including the Allen Institute for Brain Science, and international partners at institutions like University of California, Santa Cruz and the Massachusetts Institute of Technology. It has received funding support from agencies and foundations including the National Institutes of Health, the National Science Foundation, the Howard Hughes Medical Institute, and philanthropic programs tied to projects like the Human Pangenome Reference Consortium. Consortium-based grants have linked the lab to efforts from the European Molecular Biology Laboratory and public–private partnerships involving biotech companies and sequencing centers.

Facilities and Team

Housed within facilities of the University of Washington, the lab leverages core resources such as high-throughput sequencing centers, cytogenetics cores, and computational clusters affiliated with the eScience Institute and the university's biomedical informatics groups. The team comprises faculty, postdoctoral researchers, graduate students from programs such as the Molecular and Cellular Biology Graduate Program, technicians, and bioinformaticians who collaborate with clinicians from the Seattle Children's Research Institute and clinical genetics groups at regional hospitals. The lab maintains protocols for long-read sequencing, optical mapping, and hybrid assembly methods used in collaboration with technology providers and genome centers like the Broad Institute Genomics Platform.

Impact and Recognition

Findings from the lab have shaped contemporary understanding of structural variation in human genomes, influenced genome assembly strategies adopted by the Genome Reference Consortium, and informed diagnostic practices in medical genetics cited by the American Society of Human Genetics. The lab's work has been recognized through invited lectures at meetings such as the American Society of Human Genetics Annual Meeting, citations in high-impact journals including Nature, Science, and Nature Genetics, and awards associated with contributions to genomics from national funding bodies and academic honors.

Category:Genomics research