The focus of research in the Genetics of Developmental Abnormalities Laboratory is the discovery and the analysis of genes that regulate growth, development, and cell cycle progression. We utilize transgenic mice and mice with insertional and targeted mutations, which allow unambiguous assessment of gene function and interactions. Knowledge of the identity and function of these genes, and of the consequences of their interactions, can be applied to the development of methods for the diagnosis and treatment of developmental disorders.
Research projects in the laboratory are:
- Examining the role of insulin-like growth factor (Igf) signaling in normal and abnormal growth, development, and mental retardation. We are determining if alterations in Igf signaling play a role in Fragile X syndrome, using mouse models of these diseases.
- Identifying the genes responsible for abnormal kidney and limb development in mice that carry the Oligosyndactylism (Os) mutation.
- Studying the frequency of cell fusion in normal development and abnormal growth. Cell fusion between stem cells and differentiated cells has been demonstrated in some cases of stem cell therapy, including diseases affecting neuronal function, and may account for the acquisition of specialized functions by the undifferentiated stem cells.