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 developmental malformations, especially craniofacial disorders
such as Crouzon, Apert, and Treacher Collins syndromes. Mutations
for craniosynostosis and mandibulofacial dysostosis conditions were
identified in homeobox and helix-loop-helix transcription factors
and growth factor receptors. 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 normal
and abnormal developmental processes, and phenotype-genotype correlations.
Related research
websites:
Last Updated:
5/13/04
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