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Welcome to the Cytogenetic Research Lab
of Dr. Charles Lee


The Cytogenetic Research Laboratory of Dr. Charles Lee at Brigham and Women’s Hospital/Harvard Medical School develops and applies state-of-the-art, molecular cytogenetic technologies to study the structure and organization of vertebrate genomes to understand human diseases and disorders.

Ongoing studies include (1) structural genomic variation (including copy number variants); (2) development and application of molecular cytogenetic probes and technologies for model organisms of human disease (including the zebrafish); (3) identification of cancer biomarkers. We also run a Cytogenetic Core facility that provides cytogenetic services for researchers of the Dana Farber/Harvard Cancer Center and around the world.

We welcome you to our site and encourage you to look around at the research opportunities and services we provide in cytogenetics.


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In the News

2012 Chen Global New Investigator Award from the International Human Genome Organization (HUGO)
Charles Lee, PhD, FACMG, clinical cytogeneticist, at Brigham and Women's Hospital and associate professor of pathology at Harvard Medical School, has been awarded the 2012 Chen Global New Investigator Award from the International Human Genome Organization (HUGO).

The award, named after two dedicated biomedical researchers, recognizes scientists who have made significant contributions to the field of human genetics and genomics during the first 15 years of their research careers. The 2012 Chen Global New Investigator Award acknowledges Lee’s initial description of copy number variants (CNVs) of genes and DNA as a highly abundant form of human genetic variation in 2004.

The award committee recognized this discovery as a breakthrough concept that has fundamentally shifted our understanding of genetic variation across individuals, evolution and disease. Lee and his team in the Pathology Department’s laboratory at BWH have subsequently been examining the role of CNVs in human individuality, disease susceptibility, and personalized medicine using next generation DNA sequencing.

Lee is one of only two recipients to have ever received this highly competitive honor, and will present a lecture in conjunction with this award at the annual HUGO Human Genome Meeting in Sydney, Australia in March.

For more information about International Human Genome Organization, please visit

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2008 Ho-Am Prize in Medicine given for discovery of human genomic variation
Charles Lee, an assistant professor of Pathology at Brigham and Women's Hospital and Harvard Medical School, and a Broad Institute Associate Member, has been awarded the 2008 Ho-Am Prize in Medicine.  The award recognizes Lee's fundamental contributions to identify and understand human structural genomic variation, including copy number variants (CNVs) - a form of genetic variation in which stretches of the human genome are present in excess copies or missing altogether.
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Science News-Focus 09/07/2007
DNA duplications and deletions help determine health
Each human's genome is distinguished by extra, and sometimes missing, DNA that can powerfully impact everything from development to disease.
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Nature Genetics 08/01/2007
The Genome Structural Variation Consortium
Has announced plans produce a second-generation, high-resolution map of human copy number variants (CNVs) using whole-genome oligonucleotide tiling arrays.
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Wellcome Science 07/19/2007
The numbers game
A map of copy number variation in the human genome shows that we are genetically more diverse than expected. "I believe this paper will change forever the field of human genetics," said Professor James Lupski from Baylor College of Medicine, Texas, in November 2006.
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Genomics and Proteomics 06/04/2007
Genome Complexity Amplified
Variability is an inherent part of nature. It is omnipresent, especially in the natural world, where diversity is king. Genomes of the various life-forms on earth are, by their very nature, variable. But diversity could not be present without genomic variability. And so it goes that biologists want to understand variability at all of its levels, from the gene to the whole organism. And therein lies the reason why scientists study one form of genetic variability, copy number variation (CNV).
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American Association for Cancer Research 04/12/2007
Inaugural Award Honors Collaborative Team Science in the Interest of Cancer Research
Highlighting the collaborative nature of the American Association for Cancer Research (AACR), the inaugural AACR Team Science Award will be presented to a team comprised of researchers from the University of Michigan and Harvard Medical School/Brigham and Women's Hospital at the 2007 AACR Annual Meeting in Los Angeles.
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Brigham and Women's Hospital 11/23/2006
Development of a human copy number variation map
Boston, MA - Charles Lee, PhD, of Brigham and Women’s Hospital’s (BWH) Department of Pathology, and colleagues have generated the first map of the human genome that looks at duplications and deletions of large DNA segments found in healthy individuals, also known as copy number variants (CNVs), some of which are responsible for individual differences in susceptibility to diseases such as AIDS. These findings appear in the November 23, 2006 issue of Nature and are the product of an international research consortium between BWH, Harvard Medical School (HMS), The Hospital for Sick Children in Toronto, Canada, The Wellcome Trust Sanger Institute in Cambridge, England, The University of Tokyo and Affymetrix.
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The Independent News 11/23/2006
Genetic breakthrough that reveals the differences between humans
Scientists have discovered a dramatic variation in the genetic make-up of humans that could lead to a fundamental reappraisal of what causes incurable diseases and could provide a greater understanding of mankind. The discovery has astonished scientists studying the human genome - the genetic recipe of man. Until now it was believed the variation between people was due largely to differences in the sequences of the individual " letters" of the genome. It now appears much of the variation is explained instead by people having multiple copies of some key genes that make up the human genome. Until now it was assumed that the human genome, or "book of life", is largely the same for everyone, save for a few spelling differences in some of the words. Instead, the findings suggest that the book contains entire sentences, paragraphs or even whole pages that are repeated any number of times.
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Boston Globe 11/23/2006
New DNA map shows more gene variations
SAN FRANCISCO -- Researchers have plotted a new human DNA map that could help identify people who are genetically vulnerable to diseases such as AIDS.
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