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.