Watch: How we're finding a cure for inherited heart conditions
The BHF is funding research to find the genes that cause inherited heart conditions such as Marfan syndrome. Watch our animation to learn how scientists are looking for new treatments.
Wouldn’t it be amazing if we could grow your heart condition in a dish and find out exactly which medicines could help you?
That’s what Dr Sanjay Sinha and his team are trying to do, thanks to the BHF. They grow the patient’s exact version of a condition and look for new treatments. Dr Sinha’s team are doing this for Marfan syndrome, a rare but potentially serious inherited condition.
Other BHF-funded scientists are doing this for other
inherited conditions, including cardiomyopathies and heart rhythm disorders. In future, this method could save lives. What is Marfan syndrome?
Inherited heart conditions are caused by a mistake in one or more of your genes. In Marfan syndrome, a mistake in just one gene causes changes in the whole body.
Marfan syndrome means you have a problem with your connective tissue – the glue that holds your cells in place.
In Marfan syndrome the aorta might well up and even burst
Marfan syndrome affects different people in different ways. It can make some people very tall, or cause spine or eye problems. But the most serious risks are caused by weak blood vessels.
The biggest blood vessel in your body is the aorta. In Marfan syndrome the aorta might well up (this is called an
aneurysm) and even burst.
This can be fatal. The only treatment is major surgery.
How are we finding new treatments for Marfan syndrome?
The BHF has funded Dr Sinha and his team to find new treatments.
The team takes skin cells from Marfan patients and turns them into stem cells. Stem cells can grow into any type of cell in order to build or repair different parts of the body. Dr Sinha’s turn these stem cells into cells that make up blood vessel walls.
Stem cells can grow into any type of cell in order to build or repair different parts of the body
Because these cells are from Marfan patients, they die quickly and make weak connective tissue. Dr Sinha’s team looked at what was happening inside the cells and discovered why they were dying. Now they’ve found a drug to stop it.
These tests have been done on cells in petri dishes. Next they hope to test this drug in patients.
We want to keep more blood vessels healthy and save people with Marfan syndrome from suffering an aneurysm.
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