Although he did not win the prestigious prize, Charles Lee, Ph.D., the scientific director of the Jackson Laboratory for Genomic Medicine in Farmington, was thought to be a top contender for the Nobel Prize in Physiology and Medicine, according to Thomson Reuters.
Lee, a professor and scientific director of the laboratory, which is located at the UConn Health Center, is internationally recognized for his discoveries about genomic copy number variations (CNVs).
The world-renowned scientist is best known for his discovery that CNVs–a state in which cells have an abnormal number of copies of DNA sections, sometimes associated with susceptibility or resistance to disease–is widespread and significant in the human genome.
This discovery, and his subsequent pioneering research, has provided the tools that clinicians around the world need to help them make accurate diagnoses for genetic testing of conditions such as autism, birth defects and cancer.
Lee was nominated along with Stephen W. Scherer of the University of Toronto and Michael H. Wigler of Cold Spring Harbor Laboratory for research that clarifies how genetic variations link to disease, according to a Reuters press release.
The prize winners were announced on Oct. 6.