3D Endothelial Spheroid Model of Capillary Malformations
Boston Children’s Hospital
Overview:
Capillary malformations, often seen as birthmarks or patches of discolored skin, can sometimes be more than just a cosmetic issue. In more than 90% cases, these are caused by changes in a gene called GNAQ, which can affect how blood vessels form and function, leading to problems not only on the skin but also in the brain and eyes. For many patients, these malformations can grow over time, become painful, or cause other serious complications. They can also impact a person’s quality of life, both physically and emotionally.
As of now, treatment options are limited, and many only manage the symptoms rather than fix the root cause. By understanding GNAQ driven malformations especially how mutant cells interact with the non-mutant cells, we can discover better drug targets that work more precisely, with fewer side effects, and potentially stop or even reverse the disease. Our goal is that this research brings better treatment option for people living with these challenging conditions.
Status:
This was funded through a 2025 PeDRA Research Grant.