Three-dimensional modeling and CRISPR-Cas9 gene editing technology are giving scientists a new view into Sturge-Weber syndrome, a rare congenital disorder that causes small blood vessels, called capillaries, to be malformed. These capillary malformations can cause port wine birthmarks on the face and neck, and in some cases, abnormal vasculature in the brain that can spark seizures.
Last year, a Boston Children’s Hospital research team — led by Joyce Bischoff, PhD, of the Vascular Biology Program — discovered that the genetic mutation responsible for Sturge-Weber syndrome dwells in endothelial cells lining the affected capillaries in the brain. The team had previously found the same mutation present in the endothelial cells of skin capillaries of patients’ port wine birthmarks.
Together, their studies suggest that mutated endothelial cells could be causing surrounding cells to behave abnormally.
To explore this emerging hypothesis, Bischoff’s team is seeking lifelike ways of mimicking these hallmark capillary malformations in the laboratory. …