On the quest for treatments for dangerous aortic aneurysms in Marfan syndrome

New therapeutic strategies for Marfan and other genetically-triggered aortic aneurysm syndromes

Marfan syndrome is an inherited condition that causes problems with the body’s connective tissue. It is caused by faults in a particular gene, and is therefore passed down through families. The most severe consequence of Marfan syndrome is the high risk of thoracic aortic aneurysm. This is when the wall of the main artery leaving the heart weakens, expands like a balloon, and can rupture or tear, which can be potentially fatal. There is no cure or effective treatment for Marfan syndrome, and we don’t fully understand how it causes aortic aneurysm. BHF Senior Clinical Research Fellow, Dr Sanjay Sinha, is determined to find out more about the biological processes that take place in the condition, and find new ways that we could combat them with medicines. He has created the ‘disease in a dish’, by taking skin cells from people with Marfan syndrome and reprogramming them into the kind of muscle cells that make up the aorta’s wall. In this research programme, he will study these cells to identify how the faulty gene affects them, and develop ways to prevent the dangerous effects. Successful treatments in the dish will then be trialled in mice with Marfan syndrome. If successful, the research could be progressed to clinical trials of new treatments in people with Marfan syndrome.