Charles Lee, Ph.D., FACMG

Director & Professor

Robert Alvine Family Endowed Chair

Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine.

Dr. Lee joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital. He is best known for his discovery that copy--number variation—a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease—is widespread and significant in the human genome. This discovery, and his subsequent research, has provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands of genetic tests every year on conditions such as autism, birth defects and cancer.      

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 and is currently president of the Human Genome Organization (HUGO).