Sturge-Weber Syndrome (SWS)

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.  

(Baltimore, MD) -- Kennedy Krieger Institute will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.

"This is a global observance," said Peter L. Saltonstall, president and CEO of NORD. "Individuals and organizations around the world will all be sharing stories of how rare diseases affect their lives."

The challenges of living with a rare disease, he said, include:

The Chesapeake Bay was brought to life on Sunday, April 25, for the fifth annual Bands on the Bay event. Featuring the sounds of live music, silent and live auctions, and delicious food and drinks, Bands on the Bay is a fundraiser organized by friends and family to honor Jenna Heck, who was diagnosed with Sturge-Weber Syndrome, a disorder characterized by a facial birthmark and neurological abnormalities.

The day Colleen Watson delivered her son Kyle was one of the happiest days of her life.

(Baltimore, MD) Kennedy Krieger Institute will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on February 28, 2011. On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern.

Baltimore, MD-The National Institutes of Health announced this week funding for 19 research consortia as part of an expansion of the Rare Diseases Clinical Research Network (RDCRN), including a Brain Vascular Malformation Consortium. Dr. Anne Comi and her colleagues in the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute have been funded to contribute to this consortium, which will be led by Dr. William Young at the University of California, San Francisco.

Baltimore, MD - Families will be rockin' and rollin' on the Chesapeake Bay at the annual Bands on the Bay event, Sunday, April 25. A music-filled afternoon for the entire family, Bands on the Bay will feature the Doug Segree Band; Orlando Phillips, Caribbean music steel drum musician and the former lead vocalist of the Caribbean music group Mama Jama; Jefe, solo acoustic act; and The Fitzmaurice Band. Guests will enjoy live music and great food and drink while raising money for a good cause-the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute.