Scientists have discovered a single genetic mutation responsible for the condition known as port-wine stains.<br /><br />Sturge-Weber syndrome (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 U.S.<br /><br />"This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks," Jonathan Pevsner, Ph.D., Director of Bioinformatics at Kennedy Krieger Institute and co-senior study author, told Reuters. <br /><br />"While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist. The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis," he continues.<br /><br />Sturge-Weber syndrome is a neurological and skin disorder associated with port-wine birthmarks on the face, glaucoma, seizures, intellectual impairment and weakness on one or both sides of the body.<br /><br />Current treatment options for children with SWS are limited, but include medications to reduce the likelihood of seizures and stroke-like episodes, eye drops and/or surgery to manage glaucoma, and physical rehabilitation, according to Reuters.<br /><br />FOR MORE NEXT MEDIA ANIMATION, GO TO: http://www.youtube.com/subscription_center?add_user=NMAWorldEdition <br /><br />FOR MORE NEXT MEDIA ANIMATION IN ENGLISH, GO TO: http://www.youtube.com/subscription_center?add_user=NMAtv <br /><br />FOR MORE TOMONEWS US, GO TO:<br />http://www.youtube.com/subscription_center?add_user=TomoNewsUS <br /><br />FOR MORE TOMONEWS JP, GO TO: http://www.youtube.com/subscription_center?add_user=TomoNewsJP <br /><br />FOR MORE APPLE DAILY ENGLISH, GO TO: http://www.youtube.com/subscription_center?add_user=AppleDailyEnglish <br /><br />CHECK OUT THE ODDBODS!<br />http://www.youtube.com/user/nxTomo
