Research in Newcastle to further study the role of genes in congenital heart defects


New research funded by the British Heart Foundation (BHF) at Newcastle University will study how certain genes could lead to heart blood vessel defects in babies.

Each day in the UK, around 13 babies are diagnosed with a congenital heart defect – a condition that develops in the womb before the baby is born. Some of these defects can be found in the large blood vessels surrounding the heart, and normally require complicated operations to repair.

Although abnormalities in genes are often the underlying cause of a congenital heart defect, how these genes interact with types of tissues near the heart is not well known.

Researchers at Newcastle have now been awarded £110,000 to study the genes found in a tissue called the pharyngeal endoderm, which is formed near to where the large blood vessels develop.

The scientists will use special laboratory tools to look at the tissue from mice under a microscope, and will also extract its cells and examine the changes in genes expressed in them.

By doing this, they hope to find which genes are important for the formation and development of the large blood vessels, and identify those which could cause defects in them.

The three-year project will be led by Dr Simon Bamforth from Newcastle University’s Biosciences Institute.

Dr Bamforth said: “Congenital heart disease is the most common cause of birth defects in babies born in the UK. The underlying causes of these defects are poorly understood, so research is required to increase our understanding of how the large blood vessels form within the early embryo.

“This study aims to expand on our current knowledge about how certain genes and tissues interact to control the development of the major blood vessels of the heart, adding new information to this area of biology.

“By understanding how these genes interact, it may pave the way for future screening for these genes. This could lead to future preventions and treatments for heart defects.”

Dr Noel Faherty, Senior Research Adviser at the BHF, added: “Today, thanks to research, 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 provide us with vital answers as to how certain genes and tissues interact to cause defects in the large blood vessels of the heart. Further research will then be needed before we can see how this translates to humans, but this study could be an important step in our understanding.

“Worryingly, the ability of the BHF to fund crucial projects like this is under threat. Coronavirus had had a devastating impact on our fundraising. That’s why – together with other medical research charities – we are calling on the Government to commit to a Life Sciences Charity Partnership Fund. This will ensure that the BHF and other medical research charities can continue to invest in the science that produces the breakthroughs that save and improve lives.”


The new funding has been welcomed by mum-of-three Fay Murrish, from Seaham in County Durham. Two of Fay’s children – daughter Chanel, aged six and Chase, aged 11 – were born with congenital heart defects.

Chanel was born with a rare condition called hypoplastic left heart syndrome, and required open heart surgery when she was just one minute old. Chase was diagnosed with a leaky heart valve, a condition that was only picked up after he underwent tests following Chanel’s operation.

Fay, aged 31, said: “We are really pleased to hear that the BHF is funding further research into the part genes play in congenital heart defects. Hopefully answers found by this research can help families like ours in the future.”


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