Finding genes that tell left from right

Congenital heart disease gene identification by whole exome medical resequencing

Cilia are finger-like projections from cells that act as a cellular antenna to detect and respond to chemical or mechanical cues. Cilia are responsible for the development of the normal left-right asymmetry in the embryo, where different organs are positioned on different sides of the body. A group of inherited conditions called ciliopathies can develop when the structure or function of cilia are defective. In many ciliopathies there are disturbances in left-right organisation of the lungs and heart. Left-right disorganisation is also seen in congenital heart disease (CHD). This research aims to identify many of the genes that are defective (mutated) in these left-right disorganisation syndromes with associated congenital heart disease. The research team at the University of Leeds will take advantage of recent exciting advances in genetic technology that allow analysis of the entire coding parts of a person’s DNA (whole exome sequencing). They have a proven track record of success in this field with state-of-the-art technology, computer analysis tools and experience.