Genetics of Chiari Malformation

Reader Tammy wrote yesterday to tell me about Baylie Owen, a six-year-old girl diagnosed with Chiari malformation just before she entered toddlerhood. Before she even started kindergarten, Baylie suffered from severe headaches, nausea, and debilitating pain.

People with Chiari malformation have a defect in the area where the brain and spinal cord join. Headaches and other symptoms occur when a portion of the brain protrudes into the spinal canal. Approximately 1% of newborns are born with a developmental defect in the brain-spinal cord region that could lead to Chiari malformation.

The genetics of Chiari malformation is still not well understood but it appears to cluster in families. Researchers at both the National Institutes of Health and Duke Center for Human Genetics are recruiting families who are affected by Chiari malformation with the ultimate goal of finding the responsible genes and developing appropriate interventions.

Unlike most kids her age, Baylie knows she’s not the only one struggling with Chiari malformation. A few months ago, she decided to raise money for Chiari research. Via her website, Baylie for Brains, she sells handmade bracelets which are being sold for $5 each. Tammy tells me Baylie for Brains also needs donations of beads and completed handmade bracelets to fill orders. Supporters who can’t afford to donate can still get a bracelet by e-mailing Baylie for Brains. It’s a cause worthy of your support.

If you’re raising money for a disease with a genetic basis and would like to be featured at the Genetics and Public Health Blog, please leave a comment below.