Evan E. Eichler, Ph.D.

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

SFARI Investigator Website

Evan Eichler’s laboratory has considerable experience in the organization of duplicated and repetitive DNA and their role in contributing to de novo deletions and duplications associated with intellectual disability, autism spectrum disorder and other genomic disorders. His team has developed novel computational and experimental methods to characterize genetic variation within both unique and highly duplicated regions in the genome.

As a SFARI Investigator, Eichler developed a copy number variant morbidity map for autism, discovered associated novel, high-impact genes, successfully applied molecular inversion probe (MIP) technology for rapid, cost-effective resequencing of candidate genes, established efficient and uniform workflows for both whole-exome and whole-genome sequencing analyses, and developed a working model to understand the genetic architecture of the condition.

Funded Projects

Copy number variation and pathogenic variant analyses of SPARK exomes

Awarded: 2020
Award Type: Director

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

SFARI Funded Publications

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Gofin Y., Wang T., Gillentine M.A., Scott T.M., Berry A.M., Azamian M.S., Genetti C., Agrawal P.B., Picker J., Wojcik M.H., Delgado M.R., Lynch S.A., Scherer S. W., Howe J.L., Bacino C.A., DiTroia S., VanNoy G.E., O'Donnell-Luria A., Lalani S.R., Graf W.D., Rosenfeld J.A., Eichler E., Earl R.K., Scott D.A.

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies. Ebstein F., Küry S., Most V., Rosenfelt C., Scott-Boyer M.-P., van Woerden G.M., Besnard T., Papendorf J.J., Studencka-Turski M., Wang T., Hsieh T.-C., Golnik R., Baldridge D., Forster C., de Konink C., Teurlings S.M.W., Vignard V., van Jaarsveld R.H., Ades L., Cogné B., Mignot C., Deb W., Jongmans M.C.J., Cole F.S., van den Boogaard M.-J.H., Wambach J.A., Wegner D.J., Yang S., Hannig V., Brault J.A., Zadeh N., Bennetts B., Keren B., Gélineau A.-C., Powis Z., Towne M., Bachman K., Seeley A., Beck A.E., Morrison J., Westman R., Averill K., Brunet T., Haasters J., Carter M.T., Osmond M., Wheeler P.G., Forzano F., Mohammed S., Trakadis Y., Accogli A., Harrison R., Deciphering Developmental Disorders Study, Care4Rare Canada Consortium, Rondeau S., Baujat G., Barcia G., Feichtinger R.G., Mayr J.A., Preisel M., Laumonnier F., Knaus A., Isidor B., Krawitz P., Völker U., Hammer E., Droit A., Eichler E., Elgersma Y., Hildebrand P.W., Bolduc F., Krüeger E., Bézieau S.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes. Zhou X., Feliciano P., Wang T., Astrovskaya I., Shu C., Hall J.B., Obiajulu J.U., Wright J., Murali S., Xu S.X., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Green Snyder L., Han B., Chang T.S., Turner T.N., Harvey W., Nishida A., O'Roak B., Geschwind D., the SPARK Consortium, Michaelson J., Volfovsky N., Eichler E., Shen Y., Chung W.