Research - The Genetics of Chiari Type I Malformation

The Genetics of Chiari Type I Malformation (CMI) with or without Syringomyelia

Grant Recipient: Dr. Allison Ashley- Koch, Duke University

Purpose of the study: The Duke Center for Human Genetics is investigating the hereditary basis of Chiari type I malformations (CMI) with or without syringomyelia. Our research is aimed at learning if CMI is indeed caused by factors inherited through the family and, if so, which genes are involved. The long-term goal is to find out how these genetic factors cause or contribute to CMI, with the hope that this knowledge will lead to improved diagnosis and more effective treatments.

Participation: We are actively recruiting families who have TWO OR MORE family members with Chiari type I malformations, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate. At the current time, we are NOT accepting families in which the only diagnosed members are a parent and child.

Study participation involves these steps:

  • Contact our study coordinator
  • Answer questions about family and medical history
  • Complete a medical questionnaire
  • Provide a photo of yourself
  • Allow review of medical records and MRI to confirm the diagnosis
  • Provide a blood sample
  • Potentially ask other family members (parents, siblings, children) to participate in the study.

If your family meets these criteria and you want to receive study participation information, please contact the study coordinator at or call(919) 684-0655

Funding provided by the Marcy Speer Research Memorial Fund