How Nobel Prize winners have helped bridge the gap between genetics and the heart

8 October 2015        

Researcher working at a lab bench

The 2015 Nobel Prizes are announced this week. Every day Christie Norris from our Research Communications team will look at how the work of previous Nobel Prize winners has influenced our research. Today she looks at genes and congenital heart disease.

We support cutting-edge research searching for genes which are the most likely cause of congenital heart disease, built on the discoveries of the 1995 Novel Prize in Physiology or Medicine. 

Congenital heart disease is a structural defect of the heart that develops in the womb. Congenital heart defects affect one in 133 babies in the UK, and range from a hole between the heart’s chambers to a valve which poorly controls the direction of blood flow. The work of the 1995 Nobel Prize winners helped scientists understand more about the genetics behind congenital heart disease. We fund crucial research exploring which genes cause these diseases. 

Control of embryonic development

Physiology or Medicine Nobel Prize winners Edward B. Lewis, Christiane Nüsslein-Volhard and Eric F. Wieschaus helped identify genes which control fruit fly development. These ‘hox’ genes tell different cells what to become and aid the formation of the fly’s body.  When comparing fruit fly DNA with that of other species, hox genes were also found in humans. Hox genes work the same way in humans as in flies, helping the body to form organs, limbs and other structures.

Nature’s blueprints

In the lab, scientists can change (or mutate) a single gene. By mutating hox genes, Professor Lewis produced four-winged fruit flies. His findings suggested altering genes could change the body’s structure. Thanks to the work of Professor Lewis and colleagues, it is now known that our genetic make-up is crucial to our early development. When things go wrong with our genes, the structure of our organs can be disrupted.

Screening our genes

With these crucial findings, genes have moved to the forefront of medical research. We fund scientists at the University of Nottingham to help find genes which, if mutated, can cause congenital heart disease. Dr Anna Wilsdon and Professor John David Brook are using a genetic screening test called ‘array-CGH’. This test looks for links between faulty genes and congenital heart diseases with the aim of identifying the genes which are the most likely cause. We also support the work of BHF Professor Bernard Keavney who, alongside his team, has launched one of the largest studies looking at families with congenital heart disease. 

Can environmental factors influence our genes?

BHF Professor Shoumo Bhattacharya of the University of Oxford is exploring whether our environment can interact with variations in our genes, subsequently influencing the development of the heart.  Professor Bhattacharya and his team are also investigating whether a mother’s diet affects the risk of her baby developing congenital heart defects. 

Our goals

Gaining a deeper understanding of the genes causing some congenital heart diseases could help scientists find new ways of diagnosing and treating patients. When asked how knowledge of our genes could help our heart health, Professor Jeremy Pearson, our Associate Medical Director said “There are lots of genes that can cause congenital heart disease, making it very hard to identify which gene is causing the problem. In the future, we hope that it will be routine to take a tiny blood sample from the baby before birth to identify which gene is faulty and improve the baby’s long-term outcome. This isn’t yet possible, although the BHF continues to support research aimed at turning the dream into a reality.”

Thanks to the pioneering work of Lewis and colleagues in 1995, it is widely recognised that our genes hold the key to many diseases, including congenital heart defects. An exciting future lies ahead for genetic research in BHF-funded labs around the country. Watch this space. 

Take a look at our video where children talk about their heart conditions

Help us to continue funding research in the genetics behind congenital heart disease.