When neurosurgeons perform surgery for Chiari malformation (posterior fossa decompression to create more space for the cerebellum), they sometimes need to open the membrane (dura mater) that covers the child’s brain. Later in the surgery, they patch the dura mater, usually with a piece of another membrane (pericranium) that covers the child’s skull bones.

Researchers at Seattle Children’s Research Institute are using a small amount of the pericranium that surgeons remove — extra tissue that would be medical waste — to try to discover the cause of at least some Chiari malformations. We hope this research will lead to innovative therapies that improve the lives of children with this condition.

Dr. William B. Dobyns studies the tissue samples to learn how genes might affect the way the back of the brain develops. Dobyns is a medical geneticist and pediatric neurologist at the Center for Integrative Brain Research. He is an expert on the diagnosis of brain malformations and has played a major role in finding the genetic causes of other brain malformations, as well as autism and childhood epilepsy.

Dobyns is one of the few researchers in the world looking into the way Chiari malformation happens. The work being done in his lab may provide clues that help answer questions like these:

  • Is there a genetic basis for Chiari malformations, and which genes are involved?
  • Are genes a cause of differences in Chiari malformations from one child to another?
  • Why do some children with Chiari malformations also have a cyst in their spinal cord (syringomyelia), and are their cysts different than in children without Chiari malformations?
  • Can we use current treatments more effectively if we know the role of a child’s genes in their condition?
  • Can we develop new therapies for Chiari malformations and syringomyelia that treat the genetic causes?