Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder. This paper summarizes a 2015 SWS workshop in Bethesda, Maryland that was sponsored by the National Institutes of Health. Meeting attendees included a diverse group of clinical and translational researchers with a goal of establishing research priorities for the next few years. The initial portion of the meeting included a thorough review of the recent genetic discovery and what is known of the pathogenesis of SWS. Breakout sessions related to neurology, dermatology, and ophthalmology aimed to establish SWS research priorities in each field. Key priorities for future development include the need for clinical consensus guidelines, further work to develop a clinical trial network, improvement of tissue banking for research purposes, and the need for multiple animal and cell culture models of SWS.
Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: comi@kennedykrieger.org.
Anne M
AM
Comi
Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Mustafa
M
Sahin
Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.
Adrienne
A
Hammill
Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Emma H
EH
Kaplan
Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan; Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan.
Csaba
C
Juhász
Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Paula
P
North
The Sturge-Weber Foundation, Randolph, New Jersey.
Karen L
KL
Ball
Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas University, Philadelphia, Pennsylvania; Department of Pediatrics, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
Alex V
AV
Levin
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Bernard
B
Cohen
National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Jill
J
Morris
Departments of Pediatrics and Neurology, The Ohio State University College of Medicine and Nationwide Children's Hospital, Columbus, Ohio.
Warren
W
Lo
Departments of Pediatrics and Neurology, The Ohio State University College of Medicine and Nationwide Children's Hospital, Columbus, Ohio.
E Steve
ES
Roach
D000818:Animals; D002986:Clinical Trials as Topic; D056726:Genetic Association Studies; D006801:Humans; D013341:Sturge-Weber Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy
GNAQ; Sturge-Weber syndrome; glaucoma; port-wine birthmark; seizures; somatic mutation