BHF researchers recreate genetic disease in a dish

28 November 2016        

Category: Research

Heart muscle cells

Our researchers at the University of Cambridge have created, for the first time, blood vessel tissues in a petri dish which mimic Marfan syndrome in human arteries.

Marfan syndrome

An estimated 13,000 people in the UK have Marfan syndrome, which is caused by mutations in a gene known as fibrillin-1.

People with Marfan syndrome often go on to have a thoracic aortic aneurysm (TAA), where the main artery leading away from the heart balloons and can cause a life-threatening rupture. 

Currently the only treatment that prevents aortic rupture for Marfan patients suffering from a TAA is to have open-heart surgery to replace the damaged section of the aorta.

New drugs to treat the condition

Our researchers have now used these blood vessel models to gain more understanding of how the inherited disease can lead to fatal aneurysms. Their results, which provide insights into why clinical trials of drugs to treat the disease have so far been largely unsuccessful, are published in the scientific journal Nature Genetics.

The team now hope to use the lab-generated vessel cells to test drugs for people with Marfan syndrome.

Dr Sanjay Sinha, a BHF Senior Research Fellow, who led the research at the University of Cambridge Stem Cell Institute, said: "We now hope to use our newfound understanding of the way that these aneurysms develop to find new drugs to prevent these fatal aneurysms from occurring."

Shona's story

Shona Cobb, 19, from Hull, was diagnosed with Marfan syndrome and will likely need open heart surgery in her early 20s.

"When I was around eight years old I had an ultrasound scan of my heart that revealed that my aorta was slightly enlarged for my age. I haven’t had a heart operation yet, but my measurements are getting close to the point where they will operate. I am waiting for some MRI results which will tell us more. They think that in my early 20s I will need heart surgery to replace part of my aorta.

"Both my grandad and uncle died very suddenly after developing an aneurysm, so my heart problems definitely play on my mind a lot. It’s reassuring to see that progress is being made that may mean people like me don’t need to undergo such a huge procedure as open heart surgery."

Read Shona's blog about life with the inherited condition.

Research drives progress

Commenting on the discovery, our Medical Director, Professor Sir Nilesh Samani, said:

"This research brings us closer than ever before to being able to prevent aneurysms developing in people with Marfan syndrome and reducing the need for major heart surgery at a relatively young age."

Find out more about the groundbreaking research we fund and discover how your donations are making a difference to people like Shona.

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