skip navigation nih record
Vol. LXVII, No. 19
September 11, 2015
cover

previous story

next story



NIAMS Director Participates in Congressional Briefing on Sturge-Weber Syndrome

NIAMS director Dr. Stephen Katz (l) meets with (from l) Sturge-Weber Syndrome advocate Kaelin Ball, Kennedy Krieger Institute researcher Dr. Jonathan Pevsner and Sturge-Weber Foundation President Karen Ball.

NIAMS director Dr. Stephen Katz (l) meets with (from l) Sturge-Weber Syndrome advocate Kaelin Ball, Kennedy Krieger Institute researcher Dr. Jonathan Pevsner and Sturge-Weber Foundation President Karen Ball.

NIAMS director Dr. Stephen Katz recently participated in a congressional briefing on Sturge-Weber syndrome (SWS). Karen Ball, president and CEO of the Sturge-Weber Foundation, moderated the briefing—the first ever hosted by the foundation.

SWS is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark is accompanied by abnormal blood vessels on the brain surface, often leading to seizures. Individuals with SWS also often experience glaucoma. Katz discussed NIH-supported research related to SWS and highlighted the importance of research collaborations and patient involvement.

Rep. Ryan Zinke (R-MT) attended the event and spoke about the importance of supporting research and development. Dr. Jonathan Pevsner, a research scientist with the Kennedy Krieger Institute, discussed his group’s work that recently identified a single gene mutation underlying the majority of cases of SWS and port-wine stain birthmarks. Pevsner discussed how this basic research finding is opening new lines of discovery not only in SWS, but also for other conditions and diseases, such as melanoma.

In closing, Kaelin Ball, a young woman with SWS and daughter of Karen Ball, described the challenges she faces in managing her condition, including access to treatment and specialists.


back to top of page