Developmental Systems Biology Program

Philip M. Iannaccone, MD, DPhil, George M. Eisenberg Professor, Program Director

Launched in 1995, the Developmental Systems Biology program focuses on mechanisms of genetic fate in early human development. This team examines pattern formation, the process by which cells organize to form structures that develop into a normal body. Scientists are examining several key aspects of signal transduction, the method by which protein signals outside a cell cause changes in gene expression inside the cell nucleus. These signals are critical to normal development. Studying them allows scientists to uncover and understand the disturbance and disruptions in genes during development that may cause birth defects, cancer, and other childhood diseases.

The Developmental Systems Biology team has made important advances in basic research on the GLI gene. Indeed, the early work conducted by CMIER researchers has helped scientists worldwide understand that GLI functions as a transcription factor, turning other genes on and off, and that mistakes in GLI cause disorders ranging from severe birth defects to childhood cancers. Research results describing the role of GLI deficiencies in human disease were recently published in the American Journal of Human Genetics and work on the role of GLI1 in the development of brain tumors continues.

The addition of five talented investigators to this program promises to accelerate the discovery of underlying causes of childhood diseases. For example, one of the new researchers, Sara Ahlgren, PhD, is examining the interactions between genes and the environment in causing certain kinds of birth defects of the head and face. These studies may ultimately lead to new treatments or prevention of craniofacial defects.