Evan E. Eichler, Ph.D.

Professor, Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle

SFARI Investigator Website

Evan Eichler is a professor of genome sciences at the University of Washington in Seattle and a Howard Hughes Medical Institute Investigator. He received his Ph.D. from Baylor College of Medicine. After his postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined Case Western Reserve University in 1997 and the University of Washington in 2004. His research group provided the first genome-wide view of segmental duplications within human and primate genomes. He is a leader in identifying and sequencing normal and disease-causing structural variation in the human genome. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease with a specific emphasis on the genetic architecture of autism and neurodevelopmental delay.

Funded Projects

Integrated copy number variant analysis of SPARK exomes

Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK

Structural variation and the genetic architecture of autism

Awarded: 2015
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants

Genome sequencing pilot of the Simons Simplex Collection

Awarded: 2014
Award Type: Research

SFARI Funded Publications

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants. Miller D.E., Sulovari A., Wang T., Loucks H., Hoekzema K., Munson K.M., Lewis A.P., Fuerte E.P.A., Paschal C.R., Thies J., Bennett J.T., Glass I., Dipple K.M., Patterson K., Bonkowski E.S., Nelson Z., Squire A., Sikes M., Beckman E., Bennett R.L., Earl D., Lee W., Allikmets R., Perlman S.J., Chow P., Hing A.V., Adam M.P., Sun A., Lam C., Chang I., University of Washington Center for Mendelian Genomics, Cherry T., Chong J.X., Bamshad M.J., Nickerson D.A., Mefford H.C., Doherty D., Eichler E.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B.P., Gillentine M.A., Wilfert A.B., Perez-Jurado L.A., Kvarnung M., Sleyp Y., Earl R.K., Rosenfeld J.A., Geisheker M.R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E.E., Zou X., Ou J., Li H., Guo H., Gerdts J. A., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B.-M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B.D., Muglia P., van Haeringen A., Hoffer M.J.V., Franke B., Cappuccio G., Lockhart P.J., Manning M.A., Liu P., Scheffer I.E., Brunetti-Pierri N., Rommelse N., Amaral D., Santen G.W.E., Trabetti E., Sedláček Z., Michaelson J., Pierce K., Courchesne E., Kooy R.F., SPARK Consortium, Nordenskjöld M., Romano C., Peeters H., Bernier R., Gecz J., Xia K., Eichler E.

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Hudac C.M., Bove J., Barber S., Duyzend M., Wallace A., Martin C. L., Ledbetter D., Hanson E., Goin-Kochel R., Green Snyder L., Chung W., Eichler E., Bernier R.