Dr. Cimini identifies and characterizes the cellular mechanisms that induce aneuploidy, a defect by which a cell or an organism possesses a chromosome number that deviates from the number typical of the species. Aneuploidy is the leading cause of congenital mental retardation and miscarriage in humans and it is a hallmark of cancer cells.
Maintenance of a correct number of chromosomes is necessary for the development and survival of an organism. Animal cells maintain a correct diploid chromosome number by equally segregating their DNA (chromosomes) during replication into two daughter cells at each division. When chromosome segregation does not occur correctly, aneuploid daughter cells (i.e. cells possessing an incorrect chromosome number) are produced. Aneuploidy is well-known for causing severe genetic diseases (such as Down syndrome) and is the leading cause of miscarriage and stillbirth in humans. In addition, aneuploidy is now believed to play a key role in cancer development and progression. Therefore, understanding the mechanisms leading to inaccurate chromosome segregation is critical for understanding how cancer develops and progresses and will be the starting point for the development of diagnosis, prevention, and intervention protocols. Our laboratory uses a combination of live-cell imaging, quantitative microscopy, and protein inhibition to identify the cellular and molecular mechanisms responsible for inaccurate chromosome segregation.