The Lee Lab

Our Research Focus

The research laboratory of Dr. Charles Lee at The Jackson Laboratory for Genomic Medicine uses state-of-the-art technologies to study structural genomic variation in human biology, evolution and disease.  Ongoing studies in our group include:

1. Accurate identification and annotation of structural variation (SV) in human and other vertebrate genomes;
2. The development of new diagnostic assays and platforms for genomic medicine
3. Clinical Genetic Testing. Our research interest has focused on the application of new technologies and knowledge to develop novel clinical genetic tests which can improve our ability to diagnose a variety of diseases. We have evaluated the inherent limitations of current genetic testing methods and aim to improve on this. More recently, we have explored the ethical, legal and social implications (ELSI) of workplace genetic testing.

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