Craniofacial Disease and the Neural Crest

Congenital disabilities of the face and head arise primarily from abnormalities affecting the neural crest, a population of stem cells that generate most of the craniofacial skeleton. Neural crest development depends on a complex gene regulatory network (GRN) that is attuned to extracellular signals and other environmental cues to ensure precise spatial control of cellular differentiation. Despite the importance of the neural crest GRN to embryonic development, little is understood about modulation of this genetic program by environmental cues.

Marcos Simoes-Costa, Molecular Biology and Genetics, is determining how extracellular signals impact gene expression to orchestrate neural crest formation. Previous research points to biochemical connections in the neural crest GRN between the wingless (Wnt) pathway and the bone morphogenetic protein (BMP) pathway. Building on these findings, the Simoes-Costa lab aims to create a comprehensive model of how distinct signaling systems, like the Wnt and BMP, interact to trigger complex transcriptional programs that lead to cellular differentiation.

Understanding these molecular mechanisms will provide insight into the genetic basis of craniofacial disease and could lead to new diagnostic tools and therapeutic interventions. The research could also inform new methods for repairing and regenerating tissues using stem cells.

NIH Award Number: 1R01DE028576-01A1

Cornell Researchers

Funding Received

$1.8 Million spanning 5 years