Anne Marguerite Moon, MD, PhD
My laboratory is directed toward understanding normal and abnormal cardiovascular and limb development as they relate to human birth defects. We focus on the roles of Fibroblast Growth Factors (FGFs) in these processes and use a range of tools that allow us to carefully control the activity of different genes during mouse embryogenesis. Thus we can investigate how specific genetic alterations affect structural, molecular and cellular phenotypes and pathways during development. We are investigating how FGF8 dysfunction causes congenetial heart, outflow tract, great vessel and pharyngeal gland defects. We have shown that altered FGF8 signalling contributes to the pathogenesis of human del22q11 syndromes (such as DiGeorge sequence) which are important causes of death due to cardiac and immune disease in children. Additional projects in our laboratory include: 1) developing a unique recombinase based system to investigate the role of Tbx3 in limb development as a murine model of human Ulnar-mammary syndrome and determine genotype-phenotype correlations that cannot be evaluated in humans; we are also undertaking an investigation of the role of Tbx3 in and cardiovascular development 2) investigating the role of FGF8 in pulmonary alveolar and vascular morphogenesis during murine lung development; 3) examining molecular basis of vasculogenic defects in mouse FGF mutants.