Game-changing discovery of gene mutation that causes Sturge-Weber syndrome, port-wine stain birthmarks offers new hope

Researchers have discovered the cause — a genetic mutation that occurs before birth — of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.