Overview
Birth defects occur in approximately five percent of newborns, and there are more than 700 inherited conditions with craniofacial abnormalities. The research focus of Dr. Jabs' laboratory is to increase our understanding of the molecular basis of human malformation disorders including Crouzon, Apert, Treacher Collins, Moebius, Goldenhar, oculodentodigital, and Roberts syndromes. Mutations for syndromic craniosynostosis, cleft lip and palate, and mandibulofacial dysostosis conditions were identified in homeobox and helix-loop-helix transcription factors, growth factor receptors, connexins, and cohesion proteins. Current experimentation involves gene expression and protein interaction studies in animal model, biochemical, and cellular systems. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways involved in abnormal developmental processes, and phenotype-genotype correlations. Population association studies are being conducted on non-syndromic congenital anomalies such as isolated craniosynostosis and cleft lip with or without cleft palate. Alterations in these candidate genes and genome wide variations account for abnormal as well as craniofacial variation in head shape, facial width, eye size, nose shape, lips, chin size, and bony structure in the general population. Based on these findings, therapeutic strategies are being tested in animal models to ameliorate abnormal craniofacial morphology.
Related research
websites:
Last Updated:
10/5/2009
|
