What genes control how the aortic arch develops?

Pax9 and Gbx2 genetically interact in aortic arch artery development (Ms Catherine Stothard)

Supervised by Dr Simon Bamforth, this PhD student is studying the genetics behind congenital diseases that affect the aortic arch, a major blood vessel carrying blood away from the heart. Every year babies are born with aortic arch artery defects, but as we don’t yet understand the genetic pathways that control normal development of the aortic arch, the only treatment is an urgent operation. Dr Bamforth and colleagues have found evidence that the gene Pax9 is involved in aortic arch development. His team have shown that mice lacking Pax9 have complex heart and circulatory defects, and that Pax9 interacts with a gene called Gbx2. The PhD student will confirm if these genes interact in the developing embryo, and how this genetic pathway controls aortic arch development. By understanding how genes work together to form a normal heart and blood vessels we may be able to look for changes in these genes in people who want to have children and advise them about the risks of congenital heart disease.