Charles Lee, Ph.D., FACMG

Scientific Director and Professor, The Jackson laboratory for Genomic Medicine, Robert Alvine Family Endowed Chair

The study of structural genomic variation in human biology, evolution and disease.

The research laboratory of Dr. Charles Lee at The Jackson Laboratory for Genomic Medicine develops and applies state-of-the-art technologies to study structural genomic variation and its contribution to human diseases, and vertebrate genome evolution.

Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine. He joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital and is best known for his discovery of copy-number variation which is widespread and significant in the human genome. Throughout his career, Dr. Lee has received numerous accolades and awards for his research into the human genome, including an Award from the American Association for Cancer Research and the 2008 Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), a 2014 Thompson Reuters Citation Laureate.

Honors and Appointments 


2023 – Korean Academy of Science And Technology Fellow

2018 – Lifetime Achievement Distinguished Alumni Award, University of Alberta, Canada 

2014 - Thomson Reuters Citation Laureate in Physiology and Medicine

2012 - Fellow, AAAS, American Association for the Advancement of Science

2012 - Chen Global Investigator Award, Human Genome Organization (HUGO) 

2010 - George W. Brumley, Jr., MD Memorial Award, Duke University, Durham, North Carolina, USA 

2008 - C. Thomas Caskey Lectureship, University of South Carolina, Columbia, South Carolina, USA

2008 – Samsung Ho-Am Prize in Medicine, Ho-Am Foundation

2007 - American Association for Cancer Research Inaugural Team Award, American Association for Cancer Research 

2002 - Stanley L. Robbins Research Award, Department of Pathology, Brigham and Women’s Hospital 

1996-1998 - NSERC Postdoctoral Fellowship, Natural Sciences and Engineering Research Council of Canada 

1996 - MRC Postdoctoral Fellowship, Medical Research Council of Canada 

1994-1996 - AHFMR PhD Studentship, Alberta Heritage Foundation for Medical Research


2020-2023        Adjunct Professor, Gwangju Institute of Science and Technology, Gwangju, South Korea

2018-2023        Adjunct Professor, Xi’An Jiaotong University First Affiliated Hospital, Xi’An, China

2017-2023        President, Human Genome Organization (HUGO)

2015-2020        Distinguished Professor, EWHA Womans University, Seoul, South Korea

2013-2015        Visiting Professor, Seoul National University, Seoul, South Korea

2013-2020        American Society of Human Genetics (ASHG) Awards Committee

2013-Present    Scientific Director, The Jackson Laboratory for Genomic Medicine

2011-2023        Honorary Professor, Chinese University of Hong Kong

2009-2013       Director, Molecular Genetic Research Unit, Brigham and Women’s Hospital

2008-2013       Associate Professor, Pathology, Harvard Medical School

2003-2008       Assistant Professor, Pathology, Harvard Medical School

2001-2003       Instructor, Pathology, Harvard Medical School