Evan E. Eichler is an investigator at

Howard Hughes Medical Institute The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization headquartered in Chevy Chase, Maryland with additional facilities in Ashburn, Virginia. It was founded in 1953 by Howard Hughes, an American busin ...

studying human genome evolution, genome variation and their role in diseases. He is also a Professor of Genome Sciences at the

University of Washington School of Medicine The University of Washington School of Medicine is the medical school of the University of Washington, a public research university in Seattle, Washington. According to ''U.S. News & World Report''s 2022 Best Graduate School rankings, University ...

Seattle Seattle ( ) is the most populous city in the U.S. state of Washington and in the Pacific Northwest region of North America. With a population of 780,995 in 2024, it is the 18th-most populous city in the United States. The city is the cou ...

Education

Eichler was educated at the

University of Saskatchewan The University of Saskatchewan (U of S, or USask) is a Universities in Canada, Canadian public university, public research university, founded on March 19, 1907, and located on the east side of the South Saskatchewan River in Saskatoon, Saskatch ...

and

Baylor College of Medicine The Baylor College of Medicine (BCM) is a private medical school in Houston, Texas, United States. Originally as the Baylor University College of Medicine from 1903 to 1969, the college became independent with the current name and has been se ...

where he was awarded his PhD in 1995 for work on the

FMR1 ''FMR1'' (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called ''fragile X messenger ribonucleoprotein'', or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive developmen ...

gene.

Research

Eichler is considered one of the experts in

genome instability Genome instability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage. These mutations can include changes in nucleic acid sequences, chromosomal rearrangements or ...

studies,

segmental duplication Low copy repeats (LCRs), also known as segmental duplications (SDs), or duplicons, are DNA sequences present in multiple locations within a genome that share high levels of sequence identity. Repeats The repeats, or duplications, are typically 10� ...

and

structural variation Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length a ...

Awards

* Eichler is an elected Fellow of the

American Association for the Advancement of Science The American Association for the Advancement of Science (AAAS) is a United States–based international nonprofit with the stated mission of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsib ...

. * Eichler received the 2008

Curt Stern Award The ASHG Scientific Achievement Award was established in 2001 and is presented annually by the American Society of Human Genetics (ASHG) for outstanding scientific achievements in human genetics that have occurred in the last 10 years. The award w ...

from the

American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, ...

. * He was a co-recipient of the 2010

Newcomb Cleveland Prize The Newcomb Cleveland Prize of the American Association for the Advancement of Science (AAAS) is annually awarded to author(s) of outstanding scientific paper published in the Research Articles or Reports sections of ''Science Science is a ...

by the

as one of the co-authors of the May 2010 paper in ''Science'' on draft sequencing of the

Neanderthal Neanderthals ( ; ''Homo neanderthalensis'' or sometimes ''H. sapiens neanderthalensis'') are an extinction, extinct group of archaic humans who inhabited Europe and Western and Central Asia during the Middle Pleistocene, Middle to Late Plei ...

genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...

. * Eichler is also a member of the

National Academy of Sciences The National Academy of Sciences (NAS) is a United States nonprofit, NGO, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the ...

.National Academy of Sciences Members and Foreign Associates Elected
"NAS News", 2012

References

{{DEFAULTSORT:Eichler, Evan E. Living people Members of the United States National Academy of Sciences Howard Hughes Medical Investigators Human Genome Project scientists American geneticists Fellows of the American Association for the Advancement of Science University of Washington faculty Year of birth missing (living people) Members of the National Academy of Medicine