Breakthrough leads to discovery finding cause of port wine birthmarks
- 11 years ago
Scientists have discovered a single genetic mutation responsible for the condition known as port-wine stains.
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.
"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.
"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.
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.
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.
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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.
"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.
"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.
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.
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.
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