Building a genetic roadmap for congenital heart disease

A genetic roadmap for congenital heart disease (renewal: years 16-20)

Congenital heart disease is an abnormality of the heart which can be diagnosed whilst the baby is still in the womb, but is usually discovered at birth. It affects about 1 in every 180 new-borns, but thanks to advances in early diagnosis and treatment, most children are successfully treated. Sadly, some children may die from their condition. There are many different types of congenital heart disease – for example, heart valves may not be properly formed, or there are holes between the chambers of the heart. In most cases, something has gone wrong in early pregnancy by chance, but evidence is now emerging that faulty genes may also play a role. We need to understand more about how congenital heart disease develops, to reveal new ways to prevent or treat it. With BHF funding, Professor John David Brook and colleagues at the University of Nottingham have been working with researchers around the UK to understand the genetics of congenital heart disease. They have shown that errors in a number of genes, such as TBX5, are associated with congenital heart disease and that they may be important in the developing heart. They have now been awarded a grant to continue this work, and use state-of-the-art genetic techniques to look for thousands of important new gene alterations by deciphering the DNA code of families who are affected by congenital heart disease. They will work out what these new genes do, as well as other genes and proteins involved in heart development and disease. They will also study how they interact with each other, to build a ‘genetic roadmap’ for congenital heart disease and heart repair.