Craniofacial defects
Craniofacial defects —birth defects for the face and skull—are more common than you might think. Estimates range that they affect one in 1,000 to as many as one in 500 babies. Common defects include cleft lip or palate and missing teeth, but they can be more severe, including serious malformations of the skull.
Craniofacial defects have traditionally received after-the-fact therapies, with structural and cosmetic surgeries used to re-shape the defects. Research into their causes is challenging, as many defects are complex, with gene-gene or gene-environment interactions needed for them to occur. Nonetheless, recent inquiries into the genetic roots of the defects have uncovered several developmental pathways, offering hope for pre-natal treatments that can prevent the defects from even occurring.
Craniofacial defect research at The Jackson Laboratory
Researchers at the Laboratory identify and characterize genetic mutations that provide models for human craniofacial defect research. To date they have identified more than 100 heritable craniofacial abnormalities and provided them to the scientific community.
