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Cause of Port Wine Stain/SWS Identified in Recent Study

Cause of Port Wine Stain/SWS Identified in Recent Study

 

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REPORT FROM DR. COMI ON BREAKTHROUGH

 

Dr. Anne Comi is the VBF Expert for SWS. She is one of the collaborators with this recent breakthrough with PWS/SWS. Here is Dr. Comi's comment:

 

"This has been such an amazing day. I have heard from many of you and I share your excitement! We know a lot about this gene GNAQ and the protein it makes. Therefore knowing that this mutation causes SWS and PWS is a big advance for the field, and immediately leads us to new ideas about avenues that should be pursued for possible treatment. There is a LOT that still needs to be done-but now we have a direction, and information to light our way, and I feel sure that new treatments are on the way. This discovery has been the result of many years of dedicated research, and we won’t stop now. Please, continue supporting research, participating in research and when you have the opportunity, donate tissue. Together we will conquer SWS and PWS! For more information please check out our website at http://sturgeweber.kennedykrieger.org"

 

 

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic ... Original Article from The New England Journal of Medicine — Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. www.nejm.org/doi/full/10.1056/NEJMoa1213507

 

Scientists discover cause of port-wine stain birthmarks ... In what is being called a milestone discovery in the field of genetics, scientists say they have finally discovered what causes babies to be born with port-wine ... abclocal.go.com/wls/story?section=news/health&id...

 

Port Wine Stains, Sturge-Weber Syndrome Genetically Linked ... Port Wine Stains, Sturge-Weber Syndrome Genetically Linked. www.pri-med.com/pmo/MedicalNewsDetail.aspx?id...mc...

 

Scientists ID Cause of Port-Wine Stain Birthmarks - One News Page ... Researchers say they finally know what causes babies to be born with port-wine stain birthmarks and a rarer but related condition that often leads to lifelong ... www.onenewspage.us/.../Scientists-ID-Cause-of-Port-Wine-Sta...