The group includes three principal investigators, Antonio Baldini, Elizabeth Lindsay, and Francesca Vitelli with research interest related to the genetics of birth defects. The group makes extensive use of genetic engineering in the mouse with particular emphasis in conditional mutant systems to study the function of developmentally critical genes at specific times and in specific tissues. These types of studies are critical for our understanding of how birth defects arise.

All three investigators have research interests in a complex genetic disease known as DiGeorge syndrome or Velocardiofacial syndrome. The group has been the first to develop a mouse model of this syndrome and has identified the gene critical for many of the birth defects associated with this syndrome.

Research projects within the group are aimed at the identification and analysis of basic developmental genetic mechanisms that underly the pathogenesis of birth defects associated with this syndrome, in particular, those affecting the development of the heart, inner ear, craniofacial structures, thymus and parathyroids. In addition, projects within the group are also aimed at the identification of genes causing the neurobehavioral phenotype of DiGeorge Syndrome, using novel strategies.

The research of this group is funded by the National Institutes of Health (NHLBI, NIDCR, NIDCD, and NIMH), the American Heart Association, and the March of Dimes Birth Defects Foundation.