|The SWF Research Initiative|
Background Research on Sturge-Weber Syndrome (SWS) is poised at a critical juncture. As a result of two recent workshops, a clear set of research priorities has emerged that should enable the first major breakthroughs in understanding the biological basis of this disease, as well as the first tests of therapeutics for it. These workshops also captured the interest of several prominent basic neuroscientists and clinician-scientists, who have expressed enthusiasm about the possibility of putting their intellectual resources and technical expertise to work on this syndrome. However, maintaining the impetus of these recent successes will require faster funding mechanisms than are currently available through the National Institutes of Health. Therefore, the Sturge-Weber Foundation is interested in attracting private funds with which to implement the following strategic research plan. Scientific Goals
1. Understand the genetic basis of SWS
Identifying the genetic mutations responsible for SWS is key to understanding the etiology of this disease, as well as to identifying potential therapeutic targets. At this point, however, virtually nothing is known about the genetic basis of SWS. The one study to date that has addressed this issue suggests that SWS may be due to somatic mutations (these are mutations that arise in a restricted set of cells of the body during embryonic development or postnatally, and which are not passed on from generation to generation). However, the extremely high prevalence of seizure in families of SWS patients raises the possibility that in at least some cases the syndrome is due to inherited (germline) mutations. The most expeditious and costeffective approach for distinguishing between these mechanisms would be to pursue evidence for somatic mutations, while simultaneously attempting to identify families in which there is multigenerational expression of SWS phenotypes.
2. Understand the cellular defect in SWS