NIH Team Discovers Genetic Disorder Causing Strokes and Vascular Inflammation in Children

Next-generation sequencing defines new pathway for blood vessel disease

Bethesda, Maryland–(ENEWSPF)–February 20, 2014. National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team’s discovery coincides with findings by an Israeli research group that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel inflammation.