Konstantin Gängel - Vascular malformations and anomalies

Microscope image of developing blood vessels in mouse retina
3-D reconstruction of confocal images from developing blood vessels in a mouse retina at postnatal day 7.

We study the mechanisms that lead to the formation and growth of vascular malformations. Our aim is to find biomarkers and pharmacological targets in order to develop treatment strategies for patients suffering from this type of vascular anomalies.

Blood vessels transport blood, and thereby oxygen and nutrients to the cells of the body, and are thus essential to human life. While the smallest blood vessels are tiny, about one fifth as thick as a hair, they are many in number. In fact, when laid out in one line, the blood vessels of the human body would span about 100 000 km – more than twice around the earth. Depending on their location, blood vessels have adopted a remarkable functional diversity that allows them to execute their specific tasks. It is fascinating in itself how the vascular system develops and functions.

Morphological abnormalities of blood vessels

However, in some diseases, blood vessels do not develop normally, which can result in vascular malformations, which are morphological abnormalities of blood vessels that often go hand-in-hand with impaired endothelial or mural-cell function. The malformations can affect all vessel types, arise either sporadically or as a consequence of inherited mutations, and can be present at birth or acquired later in life. While certain malformations remain asymptomatic, others severely impact the quality of life and can cause seizures, paralysis, stroke, or life-threatening hemorrhages.

We use a combination of mouse genetics, intravital microscopy and single-cell RNA sequencing approaches to study vascular malformations. Our aim is to characterize the cellular and molecular mechanisms that lead to the formation and progression of those vascular anomalies. In doing so we hope to identify new biomarkers that help us predict how malformations progress, find new therapeutic targets and develop new treatment approaches for the associated diseases.

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Last modified: 2023-05-10