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Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
Date:5/10/2013

the treatment of both conditions in the future.

"As I look back on 25 years of research into Sturge-Weber syndrome, this is a momentous advancement that is thrilling as both an advocate and parent of an affected child," said Karen Ball, Founder, President and CEO of the Sturge-Weber Foundation. "This breakthrough gives renewed hope to my family and thousands of others, and brings new opportunities to increase the pace of scientific discovery for Sturge-Weber."

In revealing that SWS is caused by a somatic mutation, researchers have also confirmed for the first time that Sturge-Weber is not an inherited syndrome a meaningful insight for many parents. "When a child receives a diagnosis of Sturge-Weber, parents are often filled with questions about whether they passed down the condition to their child," said Dr. Comi. "We can now definitively put those fears to rest."


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Contact: Megan Lustig
mlustig@spectrumscience.com
202-955-6222
Kennedy Krieger Institute
Source:Eurekalert

Page: 1 2 3

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