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The Foundation strives to stimulate and support research on all aspects of Sturge-Weber syndrome, Klippel-Trenaunay, and Port Wine Stain related conditions. To date we have awarded over $800,000 in grants.

2008 - Wangcun Jia, PhD, University of California, Irvine; "Treatment of Port Wine Stain Birthmarks with Multiple Laser Pulses Approach," $30,000

Presently, all patients are treated using a single cryogenic spurt (for epidermal protection) and single laser pulse exposure (SCS-SLP). The central hypothesis of the proposed research is that multiple cryogen spurts applies intermittently with multiple laser pulse exposures (MCS-MLP) is not only safer than SCS-SLP but is also expected to improve PWS therapeutic outcome.

In the laser treatment of port wine stain birthmarks (PWS), malformed blood vessels can be injured selectively using advanced laser techniques. However, since blood vessel injury is still a wound, the damaged blood vessels will be regenerated to some extent by the body's self-healing ability. Consequently, the degree of PWS blanching seen following laser treatment remains variable and unpredictable. A novel approach to modulate the wound healing response in laser-irradiated skin using a drug called rapamycin is being developed in the Beckman Laser Institute and Medical Clinic (BLIMC). Rapamycin has been approved by the Food and Drug Administration (FDA) to fight tissue rejection following organ transplants. Rapamycin is also known for inhibiting the production of a protein involved in constructing blood vessel wall. In our preclinical studies using the in vivo rodent window chamber model, it was shown that rapamycin can inhibit the reformation of laser damaged blood vessels, which would always regenerate if only laser irradiation was applied. FDA approval to use rapamycin to improve PWS laser therapy has been recently obtained and a clinical trial is being carried out in BLIMC to determine whether the combined use of laser therapy and rapamycin will improve PWS therapeutic outcome.

2008 - Larry Scott Sherman, PhD, Oregon National Primate Research Center, Oregon Health & Science University; "Vascular endothelium-derived factors in Sturge-Weber Syndrome hypermyelination"; $30,000

Dr. Sherman and his team hope to discover the underlying cause(s) of this excess myelin formation.

This study seeks to determine the specific role of certain proteins and nerve cells in the development of white matter abnormalities associated with Sturge-Weber syndrome. White matter refers to the portion of the brain containing nerve fibers covered by a white insulation (myelin). Some children with SWS have areas of excess myelin formation, which seems to correlate strongly with cognitive decline.

 

Dr. Sherman's lab has found that the white matter of the brains of Sturge-Weber patients has excess amounts of myelin and a build-up of cells that make myelin. Myelin is a combination of proteins and lipids that surround the projections of nerve cells and help increase the speed at which nerve cells send electrical impulses. Nerve cells require just the right amounts of myelin to function properly. Too much or too little myelin can lead to cognitive problems, including mental retardation, and other neurological problems. The excess myelin in Sturge-Weber patients may therefore contribute to some of the conditions associated with the disease, including learning problems. Dr. Sherman's lab continues to characterize these changes in brain tissues from Sturge-Weber patients and they are trying to find the reasons that these excess cells accumulate. More brain tissue from Sturge-Weber patients following surgery will be needed to better understand the significance of these findings.



2007 - Guo-Yuan Yang, M.D., Ph.D.; University of California, San Francisco "Development of Cerebrovascular Dysplasia Model for SWS Study", $30,000

This application will focus on mechanistic studies that are manipulated to approximate key components of the human SWS phenotype. Based on published experience by our group and others, an animal model of growth factor stimulation against varying genetic backgrounds can approximate aspects of SWS to further understand its pathophysiology. Coupled with ongoing research into tissue expression pattern, they hope to better understand the interplay of signaling pathways and underlie the clinical phenotype.

2006 - Anita N. Haggstrom; University of Indiana "Facial Port Wine Stains and Infantile Segmental Hemangiomas Associated with Neurocutaneous Disorders: Implications of Facial Patterns”, $ 30,000

This study seeks to determine the significance of the specific location and pattern of infantile segmental hemangiomas in individuals with PHACES syndrome and port wine stains in individuals with Sturge-Weber syndrome (SWS). Researchers believe that the distribution of port wine stains (PWS), like hemangiomas, is not random, but actually corresponds with embryologic facial prominences – small protrusions or buds of tissue in the embryo from which various facial structures develop. Extension Granted

2006 - Margarita Zeichner-David, PhD; University of Southern California ”A Molecular Approach to Understand the Oral Manifestations of Sturge- Weber Syndrome”, $30,000

This proposal will seek to learn more about the oral symptoms and findings associated with SWS through the molecular study of cells collected from oral tissue and extracted teeth. Extension Granted