The focus of our research interest is on the molecular basis by which form and structure of the skeleton are regulated during vertebrate development. Our approach combines research on human genetic disorders with gene function analysis in vitro and in animal models. Recent advances in the identification of human gene mutations have provided new insights in the biology and pathology of skeletal development. The identification of new genes and their association with a distinct phenotype can give important infomation on the function of the gene. Developmetal biology on the other hand, provides us with a basic understanding and frame work of gene function during pattern formation and organogenesis. Modern techniques for the study and manipulation of gene expression provide us with the tools to study the molecular pathology of the embryo. Our goal is to combine Human Genetics and Developmental Genetics in order to understand pathology and normal gene function during development. The studies are carried out in close collaboration with the Institut für Medizinische Genetik at the Humboldt-Universität, Charité, Berlin.