Working out how congenital heart defects develop

Morphogenetic Signalling Pathways Affected in DiGeorge and Charge Syndromes: Their Role in Cardiovascular Development (renewal)

Professor Peter Scambler and his team at University College London study the underlying causes of different types of congenital heart disease – a condition where the heart doesn’t form properly as it develops in the womb. Professor Scambler has discovered a number of instructions that cells use to ‘talk’ to each other, which interpret genetic instructions and guide the heart and blood vessels to form in the developing embryo. These cell signalling pathways are involved in congenital heart diseases called DiGeorge and CHARGE syndromes. Professor Scambler has found that two distinct ‘master switch’ proteins that switch genes on and off work together in heart development. When there are insufficient levels of either of these proteins during development, congenital heart disease is likely. In this project, Professor Scambler will search for key pathways that these proteins involved in the DiGeorge and CHARGE syndromes jointly control. He will work out how they work together to affect the ways cells behave during early heart development. He will also work out the role of a molecule called semaphorin 3c, which is implicated in both syndromes. Understanding more about how the heart and blood vessels form could reveal new ways to prevent or repair heart defects in congenital heart disease.