Diseases Studied

PIK3CA related overgrowth syndrome with vascular malformations (PROSvm) are made-up of a number of disorders that have tissue overgrowth and include vascular anomalies such as capillary, venous, lymphatic malformations that are caused by an overexpression of a somatic gene, PIK3CA. These overgrowth disorders can cause pain, bleeding, infection, and dysfunction, leading to significant morbidity.

Extracranial arterial venous malformations (eAVM) are AVMs that are not in the brain or spine. They can be on the head and neck, extremities, or other organs and can cause significant bleeding, alteration, heart failure, and pain. These are abnormal connections between the arteries and the veins that are caused by germline or somatic mutations mostly of the Ras pathway.

Complex lymphatic anomalies (CLA) comprise several high-risk disorders. These disorders can involve the soft tissue, lungs, liver, spleen, intestines, and bones. They can also cause a conduction problem in which the "plumbing system" of the lymphatics is abnormal leading to pleural effusion, pericardial effusion, ascites and edema of the extremities. These conditions can also cause loss of bone and stability leading to infection, paralysis, and death.