Charles Lee is Director and Professor of The Jackson Laboratory for Genomic Medicine, The Robert Alvine Family Endowed Chair and a board certified clinical cytogeneticist who has an active research program in the identification and characterization of structural genomic variants using advanced technology platforms. His laboratory was the first to describe genome-wide structural genomic variants (in the form of

copy number variants Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of d ...

(CNVs)) among humans with the subsequent development of two human CNV maps that are now actively used in the diagnoses of array based genetic tests. Lee is also currently the President of the

Human Genome Organisation The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. HUGO has four active committees, includin ...

(HUGO).

Education

* 1990: BS in Genetics,

University of Alberta The University of Alberta, also known as U of A or UAlberta, is a public research university located in Edmonton, Alberta, Canada. It was founded in 1908 by Alexander Cameron Rutherford,"A Gentleman of Strathcona – Alexander Cameron Rutherfor ...

* 1993: MS in Experimental Pathology,

* 1996: PhD in Medical Sciences,

* 1996–1999:

NSERC The Natural Sciences and Engineering Research Council of Canada (NSERC; french: Conseil de recherches en sciences naturelles et en génie du Canada, CRSNG) is the major federal agency responsible for funding natural sciences and engineering rese ...

Fellow,

University of Cambridge , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

, UK * 1999–2001: Clinical Cytogenetics Fellow,

Harvard Medical School Harvard Medical School (HMS) is the graduate medical school of Harvard University and is located in the Longwood Medical Area of Boston, Massachusetts. Founded in 1782, HMS is one of the oldest medical schools in the United States and is consi ...

Work

Positions held *2001–2003: Instructor, Pathology,

*2003–2008: Assistant Professor, Pathology,

*2008–2013: Associate Professor, Pathology,

*2013: Director & Professor,

The Jackson Laboratory The Jackson Laboratory (often abbreviated as JAX) is an independent, non-profit biomedical research institution which was founded by a eugenicist. It employs more than 3,000 employees in Bar Harbor, Maine; Sacramento, California; Farmington, Con ...

for Genomic Medicine

Major research publications

*1993: Lee C, Sasi R, Lin CC. Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome fusions in the karyotypic evolution of the Asian muntjacs. Cytogenet. Cell Genet.. 1993; 63: 156–9 *1997 : Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997; 100: 291-304 *2004: Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet. 2004; 36: 949–51 *2006: Redon R, Ishikawa S, Fitch KR, Feuk L, Perry G, Andrews TD, Fiegler H, ... , Tyler-Smith C*, Carter NP*, Aburatani H*, Lee C*, Jones KW*, Scherer SW*, Hurles ME*. Global variation in copy number in the human genome. Nature. 2006; 444: 444–54 *Co-senior authors *2007: Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Lee C*, Stone AC*. Diet and the evolution of human gene copy number variation. Nat Genet. 2007; 39: 1256–60 *Co-senior authors *2007: Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007; 39: S48-S54 *2008: Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. The fine-scale and complex architecture of human copy number variation. Am J Hum Genet. 2008; 82: 685–95 *2010: Conrad D, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, ... , Tyler-Smith C*, Carter NP*, Lee C*, Scherer SW*, Hurles ME*. Common copy number variation in the human genome: mechanism, selection and disease association. Nature. 2010; 464: 704–12 *Co-senior authors *2011: Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, ... , Eichler EE*, Gerstein MB*, Hurles ME*, Lee C*, McCarroll SA*, Korbel, JO*. Mapping copy number variation by population-scale genome sequencing. Nature. 2011; 470: 59–65 *Co-senior authors *2012: Brown, KH, Dobrinski KP, Lee AS, Gokcumen O, Mills RE, Shi X, Chong WW, Chen JY, Yoo P, David S, Peterson SM, Raj T, Choy KW, Stranger B, Williamson RE, Zon LI, Freeman JL, Lee C. Extensive genetic diversity and sub-structuring among zebrafish strains revealed through copy number variant analysis. Proc Natl Acad Sci USA 2012; 109: 529–534 *2013: Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stutz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C*, Korbel JO*. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci USA 2013; 110: 15764-9 *Co-senior author *2015: Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abzov A, ... , Mills RE*, Gerstein M*, Bashir A*, Stegle O*, Devine SE*, Lee C*, Eichler EE*, Korbel JO*. An integrated map of structural variation in 2,504 human genomes. Nature 2015; 526: 75–81 *2017: Zhu Q, High FA, Zhang C, Cereira E, Russell M, Longoni M, Ryan M, Mil-homens A, Bellfy L, Coletti C, Bhayani P, Jila R, Donahoe PK, Lee C. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci USA 2018; 115: 5247–5252 *2019: Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, *Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019; 10: 1784.

Awards / Appointments

*2007:

American Association for Cancer Research The American Association for Cancer Research (AACR) is the world's oldest and largest professional association related to cancer research. Based in Philadelphia, the AACR focuses on all aspects of cancer research, including basic, clinical, and t ...

br>Team Award
*2008: Ho-am Prize in Medicine *2010
George W. Brumley Jr, MD Memorial Award
(Duke University) *2011–21: Honorary Professor,

Chinese University of Hong Kong The Chinese University of Hong Kong (CUHK) is a public research university in Ma Liu Shui, Hong Kong, formally established in 1963 by a charter granted by the Legislative Council of Hong Kong. It is the territory's second-oldest university an ...

*2012: Vandenberghe Chair Award (Katholic University of Leuven, Belgium) *2012: Chen Award,

*2012
Fellow, American Association for the Advancement of Science (AAAS)
*2013–: Affiliated Professor, University of Connecticut Health Sciences, USA *2013–15: Distinguished Visiting Professor,

Seoul National University Seoul National University (SNU; ) is a national public research university located in Seoul, South Korea. Founded in 1946, Seoul National University is largely considered the most prestigious university in South Korea; it is one of the three "S ...

, Korea *2014:

Thomson Reuters Citation Laureate Clarivate Citation Laureates formerly Thomson Reuters Citation Laureates is a list of candidates considered likely to win the Nobel Prize in their respective field. The candidates are so named based on the citation impact of their published resear ...

*2015–20: Distinguished EWHA Professor,

Ewha Womans University Ewha Womans University () is a private women's university in Seoul founded in 1886 by Mary F. Scranton under Emperor Gojong. It was the first university founded in South Korea. Currently, Ewha is one of the world's largest female educational ins ...

, Korea *2017–: President,

*2018
University of Alberta Distinguished Alumni Award
*2018–22: Adjunct Professor, First Affiliated Hospital of Xi'an Jiaotong University, China *2020–: Adjunct Professor, Gwangju Institute of Science and Technology, Korea *2022–: The Robert Alvine Family Endowed Chair

References

{{DEFAULTSORT:Lee, Charles University of Alberta alumni American pathologists Living people 1969 births Gwangju Institute of Science and Technology faculty Recipients of the Ho-Am Prize in Medicine