Hunting for new genes that cause aneurysms

Exome sequencing to discover new causative genes for TAAD (Thoracic Aortic Aneurysm and Dissection)

A thoracic aortic aneurysm is a widening or bulging of the aorta in your chest – the aorta is the largest blood vessel in the body, responsible for carrying blood out of your heart. If the aneurysm bursts, it can be fatal. In recent years, new genes causing these aneurysms have been identified, but around 85 per cent of cases still remain unexplained. Dr Elijah Behr and his team from St George’s, University of London have a unique collection of blood samples from 54 UK patients who have had their aneurysms repaired, as well as blood samples from their families. These people do not have any of the genes that scientists have already identified as responsible for some aneurysms. Twenty-one of the families are large enough to be studied using a technique called exome sequencing, allowing researchers to compare every gene across all family members. The BHF has now awarded the team in St George’s a grant to look for new genes for aneurysms by studying the DNA of the nine largest families. If they find a new gene, they will examine the genes of the remaining families, together with 350 families and individuals from the USA, to see if they have the same gene. They will also use computer studies to help explain why the blood vessel in the aneurysm eventually tears. This research may reveal new genes that could identify many more people at higher risk of early death from aneurysm, using just a blood sample. This research could pave the way for more genetic research and further research to develop specific medicines to prevent aneurysm in the future.