Our goal is to elucidate the genetic and developmental basis of congenital malformations. The majority of our work is currently focussed upon cardiovascular development. Previous and current work indicates that analysis of human congenital malformation can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11.2 causing a birth defect syndrome is the greatest known genetic risk factor for schizophrenia (previously known as DiGeorge syndrome). Three genes under investigation (Tbx1, Chd7 and Hira) have roles in control of transcription within progenitor or stem cell populations. Others, e.g. Semaphorins, Slits, and CXCL12 are involved in intercellular signalling. In particular, the CXCL12 pathway is involved in the development of the coronary arteries and this pathway is of interest in the development of new therapies designed to assist revascularization.