Scientists at The University of Manchester are using artificial intelligence (AI) to help unravel the secrets of gene mutations that can lead to babies being born with abnormalities in their hearts.

Dr Kathryn Hentges and her team hope the two-year project, funded by a grant from the British Heart Foundation (BHF), will provide patients and clinicians with new knowledge on the causes of congenital heart diseases and provide families with options in reproductive choices.

Dr Hentges added that longer term she hoped the research could pave the way to future screening for these genes, and empower families with knowledge about the underlying causes of congenital heart conditions.

This project is also another step towards understanding how the heart can develop incorrectly and ultimately help to inform future research that it is hoped could eventually prevent heart defects in babies from happening at all.

Each day in the UK around 13 babies are diagnosed with congenital heart disease and some children will need one or more procedures to help their hearts function normally.

The grant of £140,951 is the latest BHF grant awarded to Dr Hentges and will build on her earlier work to better understand which specific genes cause heart defects.

Previous research by the team used machine learning to predict which genes are likely to be involved in the development of the heart. The new grant will allow the team to further analyse these genes using AI to find out if they are the same genes as those found with mutations in congenital heart disease.

“I’ve always had an interest in understanding the causes of birth defects in general and particularly why new gene mutations cause children to be born with these defects,” said Dr Hentges.

“In this research we are focusing specifically on the heart to understand if we can link particular genes which have a role in development to those that cause congenital heart defects.

“This project will help speed up the process to achieve a genetic diagnosis for people with congenital heart defects, because it will identify the genes that are the most likely to cause these defects.

“We hope it will be able to give people an understanding of why something has happened to them that makes then different, and we also hope it will give peace of mind to parents that it is nothing they did in pregnancy that has caused the harm.

“Speaking to clinicians I know this is a huge issue –parents often have a lot of guilt when children are born with congenital disease, a feeling that they must have done something wrong.

“So I think it will help a lot of people, helping parents know they didn’t do anything wrong as well as giving them a specific diagnosis so that in future they will understand the course of the disease progression and make sure they get the best care for their child as they grow up.”

BHF Research Advisor Dr Tian Yu said: “Today, thanks to research, more than eight out of 10 babies born with a congenital heart defect in the UK survive to adulthood. However, we don’t always know why their hearts haven’t developed properly, and understanding this better could improve the way we diagnose and treat these conditions.

“This research could help parents better understand why and how these defects occur and help them work with medical experts to ensure they can get the best care for their children as they grow up.”


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