31 Mar 2014

Research highlights

Discovering the genetic origin of craniofacial defects 

Dr Seb Dworkin on his scientific ‘fishing
expedition’ with zebrafish embryos,
teasing out the genetic origin of cranio-
facial defects
One in 25 children is born with some form of prenatal defect. Three quarters of those affected have a craniofacial defect, caused by poor bone formation in the face and skull. That is, 0.1-0.3% of all babies born present with a facial defect, which can vary from almost undetectable to such problems as a cleft palate or serious disfigurement. Surgery not being an option for all, the alternative is to prevent the defect from occurring in the first place. The problem stems from an error in the genetic instructions for the facial formation. But which genes? Which sequences? What affects the genes? Without knowing exactly which genes are involved in the process of embryo formation, it will not be possible to develop preventive gene therapies.