Vascular cell biology

Problem

The aorta is the main route through which the blood circulates. It is an artery that, if it is opened or it ruptures (and there is usually no warning sign), carries a high risk of death.

There are genetic diseases, such as Marfan syndrome, in which the aorta becomes more fragile and more susceptible to such incidents, and this reduces the quality of life and the life expectancy of those suffering from it (around 1 in every 5,000 individuals).

There are no effective therapies that prevent or significantly delay the aortic damage, although there are promising results from studies being conducted in an attempt to reduce patients needing the operating theatre. The only solution is surgery before the vessel breaks down.

Approach

The group uses samples from patients who have undergone aortic repair surgery and genetically modified mice that present various clinical features of the disease. In the laboratory, it uses morphological techniques such as echocardiography and histology to observe structural changes of the aorta, and biochemistry to identify the molecules that are directly involved. It also uses different drugs and gene therapy tools against these molecules to interfere with the formation and/or progression of aorta dilatation.

Impact

The group wants to stop the progressive dilatation of the aorta (aneurysm) and, therefore, the risk of rupture. The aim is to avoid having to operate on patients and thus improve their quality of life.

It is important to point out that the progress it achieves can be applied to other diseases, of genetic origin or otherwise, that also affect the aorta.