Imaging to Understand Genotype-phenotype Relationships in Facial Development

A genetic change must act through development to lead to phenotypic difference. Therefore, looking at any of these three items independently loses part of the story. The goal is then to build all three of these elements together to be able to map how a genetic change leads to a quantitative change in phenotype. Quantitative analysis of both lightsheet and microCT data allow us to peer into the “black box” of development and visualize how a genetic (or epigenetic) change can lead to alterations which affect phenotype. Further, these methods allow analysis of individual embryos to increase our understanding of how small changes in individual embryos can lead to variable penetrance. We hope that understanding the level of the individual will increase our understanding of the types of phenotypic variance that characterize human disease.