Facing the Future of Craniofacial Genetics

“It is the common wonder of all men, how among so many millions of faces, there should be none alike,” wrote Sir Thomas Browne in Religio Medici published in 1643. Ever since, people have been intrigued by the development of the human head and face and its biodiversity.
Nowadays, we know that both nurture and nature, like cellular and molecular pathways, play a key role in this craniofacial development. If the cellular and/or molecular pathways are disturbed by gene mutations a malformation can occur. The aim of this thesis is to explore the genetic alterations that cause craniofacial malformations using next generation sequencing.