Diseases Studied

A disorder categorized into three types in which blood flows from high pressured arteries directly into low pressured veins (arteriovenous malformations) instead of going through capillaries which act as a pressure buffer. This leads to tissue irritation, frequent nosebleeds, and hemorrhaging (severe bleeding). Bleeds may occur in the brain, liver, lungs, and other organs. When bleeding occurs near the surface of the skin, visible red markings (telangiectasias) result.

A condition resulting in abnormal blood vessel development in the brain, eyes, and skin at birth. Hallmark features are a port-wine birthmark (a red, pink, or purple facial birthmark), leptomeningeal angiomas (blood vessel abnormalities between the two tissue layers covering the brain and spinal cord), and glaucoma (increased eye pressure). Symptoms include migraines, seizures, vision problems, and hemiparesis (temporary one-sided muscle weakness).