Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.

摘要: Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from somatic mosaic mutation in GNAQ, which also responsible for isolated port-wine birthmarks. Infants with SWS are born cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid can signal an increased risk brain and/or eye involvement prior to onset specific symptoms. This symptom-free interval represents time when targeted intervention could help minimize neurological and ophthalmologic manifestations disorder. paper summarizes 2015 workshop Bethesda, Maryland was sponsored by National Institutes Health. Meeting attendees included diverse group clinical translational researchers goal establishing research priorities next few years. The initial portion meeting thorough review recent genetic discovery what known pathogenesis SWS. Breakout sessions related neurology, dermatology, ophthalmology aimed establish each field. Key future development include need consensus guidelines, further work develop trial network, improvement tissue banking purposes, multiple animal cell culture models