Charles Lee, Ph.D., FACMG
Scientific Director and Professor, The Jackson Laboratory 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. Dr Lee is a an ABMG-certified Cytogeneticist, with research interest in structural genomic variation and its contribution to human diseases.