UCL Institute of Cardiovascular Science


Congenital vascular defects

Congenital vascular defects


Our research investigates the mechanisms underlying regulation of blood vessel Our work on vascular development springs from our understanding of defects underlying the DiGeorge and CHARGE syndromes, and investigations of the causative genes, Tbx1 and Chd7 respectively. In both cases, embryos lacking one of these genes have defects in the vasculature that derives from the paired pharyngeal arch arteries (PAAs). The pharyngeal arches are transitory segmented structures in the “neck” region of the mid-gestation embryo that give rise to many of the structures affected in the two syndromes. We know that the 4th pharyngeal arch artery is particularly important. The left 4th pharyngeal arch artery remodels to form part of the arch of the aorta, the main artery leaving the heart. Defects in this remodelling cause interruption of the aortic arch and create a condition incompatible with life (without surgical intervention). Other vascular defects seen in DiGeorge and CHARGE can be ascribed to abnormal modelling of the other arch arteries. Our aim is to identify the pathways that control arch artery formation and remodelling.

Key research activities

Identification of Tbx1 Target Genes