h1 arrowSturge-Weber Syndrome Center: News and Events

Special Announcement - Cause of Sturge-Weber Syndrome Found
Center News
Center Events
Dr. Comi Talks & Updates

Game-changing Discovery of Gene Mutation that Causes Sturge-Weber Syndrome, Port-Wine Stain Birthmarks Offers New Hope

Kennedy Krieger Researchers Pinpoint Genetic Cause of Rare Disease and Common Birthmark

BALTIMORE, MD -- In new findings published today in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of 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.  

"This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks,” said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute’s Hunter Nelson Sturge-Weber Center. “Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.”

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.

Port-wine stain birthmarks are caused by abnormally dilated capillaries in the skin, which produce reddish to purplish discoloration. While a facial port-wine birthmark can be associated with SWS, they occur commonly in otherwise healthy individuals. Physicians may perform several painful laser treatments to attempt to remove the port-wine birthmark in infant children, but it often reoccurs.

“This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks,” said Jonathan Pevsner, Ph.D., Director of Bioinformatics at Kennedy Krieger Institute and co-senior study author. “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.”

Dr. Pevsner’s laboratory found the somatic mutation (a change in DNA that occurs after conception and affects only part of the body) that causes SWS and port-wine birthmarks by performing whole genome sequencing on affected and unaffected tissue and blood samples from three individuals with SWS. They were able to identify one somatic mutation shared by all three affected samples – a nucleotide transition in gene GNAQ on chromosome 9q21. In a separate analysis, the researchers confirmed the finding by detecting the mutation in 23 out of 26 tissue samples from subjects with SWS and 12 out of 13 samples from subjects with isolated port-wine birthmarks. The control samples, and most of the unaffected samples, did not possess the mutation. These analyses also revealed the surprising outcome that the gene involved in SWS is the same gene implicated in uveal melanoma, a type of melanoma that occurs in the eye.

Collaborating with Kennedy Krieger scientists was Douglas Marchuk, Ph.D., and his team at Duke University Medical Center, who further illuminated GNAQ’s role in SWS. Within the body, GNAQ encodes a set of membrane proteins that ensure a set of signaling pathways within the cell are working correctly. However, in both SWS and port-wine stains, a mutation occurs in GNAQ that causes those sets of pathways to increase their activity, ultimately resulting in both conditions.

With the discovery of the gene and pathway involved in SWS and port-wine stains, researchers can now begin investigating drugs that selectively inhibit the implicated pathways. The link to melanoma may also influence research and lead to new directions for 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.”

This study was funded by Hunter’s Dream for a Cure Foundation; and the Brain Vascular Malformation Consortium. The Brain Vascular Malformation Consortium (BVMC; U54NS065705) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through a collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS).

“It is an honor to know that our funding was instrumental in determining the cause of Sturge-Weber Syndrome,” said Robb and Wendy Nelson, co-founders of Hunter’s Dream for a Cure Foundation, named after their late son who passed away from a SWS-related seizure. “We are grateful to the research team for their monumental advancement that now offers real hope for the development of treatments and early testing that may improve the quality of life for affected children and families.”

Kennedy Krieger researchers included Jonathan Pevsner, Ph.D., Anne Comi, M.D., Matthew Shirley, Ph.D., Joseph Baugher, Ph.D., and Laurence Frelin, M.S. Other study authors were Douglas Marchuk, Ph.D., Hao Tang, Ph.D., and Carol Gallione, of Duke University Medical Center; Bernard Cohen, M.D., of Johns Hopkins School of Medicine; and Paula North, M.D., Ph.D., of the Medical College of Wisconsin.

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD, serves more than 19,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis.  For more information on the Kennedy Krieger Institute, visit www.kennedykrieger.org.

Media Contact:

Megan Lustig

h1 arrowSturge-Weber Syndrome Center: News

Christian Schormann Music and Jewelry Collection to Support SWS

We are excited to introduce the Christian Schormann music and jewelry collection, which will donate all proceeds through the end of February 2014 to Sturge-Weber syndrome research at our site and at the Sturge-Weber Foundation. Christian Schormann directly produces all music and jewelry available through this collection, with a deep understanding of the emotional journey of life with Sturge-Weber syndrome, as well as a strong desire to help those affected. If you are finishing some last-minute holiday shopping, looking for a meaningful gift, or simply interested in helping to support this cause, please visit www.christianschormann.com.

Thank You to Our Continued Supporters!

We would like to thank the incredibly generous support from the Celebrate Hope and Faneca 66 Foundations, which helped to make the Crossing America for a Cure event a huge success.

The Heck and DeCesaris families, who have been instrumental in supporting our center through the annual Bands on the Bay fundraiser, have continued their mission of creating awareness about Sturge-Weber Syndrome and raising funds for diagnosis, research, and treatment through the creation of the Celebrate Hope Foundation. The Celebrate Hope Foundation hosted the Crossing America for a Cure event, which donated all proceeds directly to our center. After hearing about the Crossing America for a Cure event, the Faneca 66 Foundation generously agreed to match all donations, dollar for dollar.

We are incredibly appreciative of the support from both of these foundations, as well as everyone else who helped to make this event a success. We rely on these fundraising efforts in order to make our center a success. We continue to research better diagnosis and treatments for Sturge-Weber syndrome, and the outside support allows us to move forward with that mission.

Please click here to find out more about getting involved with the Celebrate Hope Foundation.

Congratulations to the Heck and DeCesaris families and the Celebrate Hope Foundation!

We want to congratulate the Heck and DeCesaris families and the Celebrate Hope Foundation for the successful Crossing America for a Cure event that will be wrapping up this coming Monday October 28th, with a welcome party at the Greene Turtle in Annapolis, Maryland. Funds raised by Crossing America for a Cure will be used to support SWS research at the Hunter Nelson Sturge-Weber Center. We thank the many supporter, sponsors, donors, team and the Faneca family for helping to make this event a success. Please check out the 2 links below for more information:

St. Mary's alum bicycles across country for a cure

Peddle On: Man Bikes 3K Miles For Rare Disease Awareness

Annapolis Resident to Bike Across America for Sturge-Weber Syndrome Cure

On September 8th, 2013, Al DeCesaris, Jr., a resident of Annapolis, will depart on a 3,000-mile, 45-day bike ride from Santa Monica, California to Ocean City, Maryland, to raise awareness of Sturge-Weber Syndrome (SWS) and funds for the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute.

Crossing America for a Cure is a fundraiser hosted by the Celebrate Hope Foundation and created by Celebrate Hope Foundation board members, siblings Al DeCesaris and Ida Heck. The foundation and fundraiser are inspired by 9-year-old Jenna, Al’s niece and Ida’s daughter, who was born with SWS.

Recent findings by researchers at the Kennedy Krieger Institute revealed the cause of SWS: a genetic mutation that occurs before birth. These findings are truly a turning point for research on SWS, as targeted therapies are developed through continued research, offering families the promise of new treatments for the first time. Please listen to Dr. Comi’s video for more information; her lab group is actively working on studying novel treatment strategies for SWS.

This is a very exciting opportunity to spread awareness of SWS and to raise money for further study of the disorder. The funds raised through Crossing America for a Cure will directly support the development of new treatments for SWS. People can follow Al on his cross-country trek by viewing his blog posts, photos, videos and tracking maps at the Crossing America for a Cure website - http://crossingamericaforacure.com. You can also support this cause when you make a tax-deductible donation to the Celebrate Hope Foundation.

CBSNews.com: Researchers discover mutation that causes Sturge-Weber and port-wine stain birthmarks

In May 2013, the New England Journal of Medicine published a new research study led by a Kennedy Krieger team who found the genetic cause of Sturge-Weber syndrome and port-wine birthmarks. This article reports on the finding. (May 9, 2013)

Additional Coverage of the Discovery:

Baltimore Sun

U.S. News & World Report

Genetic Engineering News


NIH’s Medline



My Health News Daily

MedPage Today

Coloradoan.com: Couple who lost son help make medical breakthrough" Robb and Wendy Nelson started a foundation that led to a key discovery about the disorder their son Hunter died from. (June 2013)

Baltimore Sun: "Expert Advice: Birthmark could signal disorder" Dr. Anne Comi provides tips on how to determine when a birthmark might be a sign of something more. (January 2010)

NIH Expansion of Rare Diseases Clinical Research Network to Include Kennedy Krieger Institute (October 2009)

Research Update: The Hunter Nelson Sturge-Weber Center Provides New Insights into the Treatment of Patients with Sturge-Weber Syndrome (April 2009)

Heck Family and Dr. Anne Comi profiled in article in the Capital Gazette (April 30, 2009)

Baltimore Sun profiles local Annapolis family and their fundraiser for the Hunter Nelson Sturge-Weber Center (April 26, 2009)

Read article in Pediatric News on Dr. Anne Comi discussing brain involvement in Sturge-Weber Syndrome (February 2009)

Dr. Anne Comi discusses port-wine birthmarks and SWS with Pregnancy & Newborn magazine (September 2008)

Read article in Pediatric News on Dr. Anne Comi discussing the management of Sturge-Weber Syndrome (November 2007)

Hunter Nelson Sturge-Weber Center featured in front page story in the Baltimore Sun (September 30, 2007)

Woman's World magazine sheds light on SWS - read their profile of a Hunter Nelson Sturge-Weber Center patient and her family (April 3, 2007)

A Devastating Disease Beneath the Skin. Johns Hopkins Physician Update: Dermatology. Baltimore, MD. Fall 2002. p 4.

Press release: Hemispherectomy End Seizures in Many Older Children with Rare Seizure Disorder. Baltimore, MD. December 9, 2002.

Sturge Weber Center Unites Hopkins And Kennedy Krieger Resources Against Vascular Disease. Johns Hopkins Children’s Center News. Baltimore, MD. Fall 2002.

h1 arrowSturge-Weber Syndrome Center: Events

Bands on the Bay
Herrington on the Bay
7151 Lake Shore Drive
Rose Haven, MD 20714

Thanks for joining us for this year's Bands on the Bay on Sunday, April 28, 2013. This event is an annual benefit concert and family festival held at Herrington on the Bay in Friendship, Maryland. This event is organized by friends and family to honor Jenna Heck, a child with Sturge-Weber Syndrome. Funds raised from this event benefit Kennedy Krieger Institute's Hunter Nelson Sturge Weber Center to support research and treatment of the disorder. For more information, visit www.bandsonthebay.org.


Tropical Realty Charity Golf Tournament
6450 N. Wickham Road
Suite 105
Melbourne, FL 32940

Thanks for supporting this year’s Tropical Realty Charity Golf Tournament on May 4, 2013. This event is an annual fundraiser organized by the family and friends of Lola Happel, a child with Sturge-Weber syndrome. Funds raised from this event benefit Kennedy Krieger’s Hunter Nelson Sturge-Weber Center and support the research and treatment ongoing there. Tropical Realty is blessed to have an entire community rally around their tournament each year. This year’s tournament was a sell out with a tremendous amount of business support. Their goal yearly is to raise $20,000. This year’s tournament raised $21,750. For more information, visit www.tropicalrealtygolf.com.

h1 arrowSturge-Weber Syndrome Center: Dr. Comi's Talks & Updates

Sturge-Weber Syndrome Through the Brain Vascular Malformation Consortium

These slides are from a recent talk by Dr. Comi. The slides are recommended for those interested in learning more about our recent research through the Brain Vascular Malformation Consortium, about the discovery of the SWS and port-wine birthmark mutation, and tips on how everyone can help hasten the progress towards new treatments.