Dr. Evan E. Eichler is a world-renowned geneticist whose pioneering research has revolutionized our understanding of human genome architecture and variation. He currently serves as Professor of Genome Sciences at the University of Washington School of Medicine and as an Investigator at the Howard Hughes Medical Institute, positions he has held since 2004 and 2005 respectively. Eichler received his BSc in biology from the University of Saskatchewan and earned his PhD in molecular genetics from Baylor College of Medicine in 1995, where his doctoral work focused on the FMR1 gene. Following a postdoctoral fellowship at Lawrence Livermore National Laboratory, he established his independent research career at Case Western Reserve University in 1997 before moving to the University of Washington, where his laboratory has become a global leader in genomic research.
Dr. Eichler's groundbreaking contributions include providing the first comprehensive genome-wide view of segmental duplications within human and primate genomes, fundamentally transforming how scientists understand structural variation in the human genome. His leadership in identifying and sequencing normal and disease-causing structural variations has been instrumental in linking copy number variations to neurodevelopmental disorders, particularly autism spectrum disorder and intellectual disability. His laboratory developed novel computational and experimental methods to characterize genetic variation within both unique and highly duplicated regions of the genome, overcoming longstanding technical barriers in the field. The creation of a copy number variant morbidity map for autism and the discovery of associated high-impact genes have significantly advanced our understanding of the genetic architecture of developmental disorders, with his work on CHD8 mutations defining a specific autism subtype.
As a member of the National Academy of Sciences and recipient of the prestigious Curt Stern Award from the American Society of Human Genetics, Dr. Eichler continues to shape the field through his participation in major international genomic consortia and influential publications. His co-authorship of the landmark Neanderthal genome paper earned the 2010 Newcomb Cleveland Prize, highlighting his contributions to evolutionary genomics. Currently, his laboratory leverages advanced sequencing technologies to further dissect the relationship between genomic architecture and human disease, with particular emphasis on neurodevelopmental conditions. Dr. Eichler remains at the forefront of efforts to translate genomic discoveries into improved clinical understanding while mentoring the next generation of genomic researchers through his leadership at the University of Washington and Howard Hughes Medical Institute.
