This program focuses on research, training, and the dispersal of scientific knowledge regarding the genetic determinants of development by supporting studies of the basic biological processes underlying both normal development and the formation of developmental defects.  The program represents several areas, including birth defects and models of human disease, genetic regulation of diverse fundamental cellular processes, epigenetic and genomic regulation of gene expression, genetic networks and mutations, developmental signaling, and genetic maps. 

For instance, in the area of birth defects and models of disease, researchers are studying congenital defects and their causes in human populations.  In addition, by screening animal models for mutations that resemble human clinical conditions, researchers are providing new research tools for further study.  Several projects also seek to identify the genetic basis of human congenital defects or are combining the use of human and model animal information to study the causes of these defects.  Projects include studies of the following human conditions:  hereditary angioneurotic edema, congenital heart defects, familial patent ductus arteriosis, X-linked chondroplasia punctata, glycerol kinase deficiency, oro-facial clefts, oculo-oto-facial dysplasia, branchio-oto-renal syndrome, congenital diaphragmatic hernia, and Rothmund-Thomson syndrome. 

Program efforts rely on animal and human stem cells to elucidate fundamental processes that regulate cell-fate commitment and differentiation—work that will have a significant impact on regenerative medicine for both developmental effects and degenerative diseases.  Importantly, all of the areas supported by this program strive to utilize information from both human and animal models to unravel the complex genetic and epigenetic regulation of development.