Exploring the complex genetics behind congenital heart disease

Identifying new genes that cause congenital heart disease through copy number variant analysis (Dr Anna Wilsdon)

Congenital heart disease affects around 1 in 133 newborn babies. Genetics play a large part in this, and in many cases there are complex interactions between many different genes. A genetic test called an ‘array-CGH’ can reveal more about the causes by detecting missing sections of genetic information - called deletions, or extra sections - called duplications. Scientists have found that specific deletions and duplications are broadly linked to congenital heart disease, and missing a copy of a specific gene that is important in the heart could directly lead to the condition. Professor John David Brook from the University of Nottingham has received a grant to identify genes that cause congenital heart disease. His team will study genetic samples from a group of patients with congenital heart disease who have gene deletions and duplications. They will look at disease characteristics and family history, and compare this to the deleted and duplicated genes. They will also use the information we already have about each gene to identify candidates that are most likely to be the cause of congenital heart disease for further study. The research group will then use chicken embryos to see what happens to the heart when these genes are completely missing or not working normally. This research will help us understand why congenital heart diseases occur, the network of genes underlying it, how they are inherited, and other genes worthy of further study.