Our research is forging new paths of discovery in finding the multiple genetic causes of complex developmental disorders like congenital heart disease and schizophrenia. Through our ground-breaking work we are helping to develop a better understanding of emerging rare disorders caused by clinically relevant genetic changes. The most prominent of these involve changes in the structure of the human genome that affect early development and risk of diseases arising later in life. We are world leaders in the study of adults with the most common genomic disorder - 22q11.2 Deletion Syndrome. This complex multisystem condition causes a significant proportion of major congenital heart disease and schizophrenia in the general population. Using the latest genetic techniques, including genome sequencing, and clinical assessments, our research is leading to more specific molecular diagnostics and to delineation of disease pathways. A novel example is our finding of a new pathway for tetralogy of Fallot, a major congenital heart disease (“blue babies”). The ultimate goal of our research program is to use this new knowledge to develop innovative management and preventive strategies to improve outcomes for these complex lifelong conditions.