A major goal of research in our lab is to understand mechanisms underlying variation in the penetrance and severity of craniofacial disease phenotypes. It is widely noted that individuals carrying similar disease causing mutations often exhibit very different malformations. This fact is reflective of the complexity of craniofacial development, which leads to imprecise genotype-phenotype relationships. Our research focuses on investigating tissue-level processes as mediators of the genotype to phenotype translation with the overall goal of understanding the origins of variation contributing to craniofacial disease.
DiseaseA major goal of research in our lab is to understand mechanisms underlying variation in the penetrance and severity of craniofacial disease phenotypes. It is widely noted that individuals carrying similar disease causing mutations often exhibit very different malformations. This fact is reflective of the complexity of craniofacial development, which leads to imprecise genotype-phenotype relationships. Our research focuses on investigating tissue-level processes as mediators of the genotype to phenotype translation with the overall goal of improving diagnosis and treatment of craniofacial disease.
|
EvolutionAnother area of research in our lab focuses on developmental mechanisms generating adaptive variation. The craniofacial skeleton is both highly conserved in its overall structural organization and remarkably diversified in its size and shape. This is especially true for the jaw, which exhibits significant variation in size within vertebrate lineages. Our research investigates how developmental programs can be modified to provide the variation essential for this evolution while simultaneously sustaining signaling interactions that facilitate structural and functional integration.
|