Approved Research

Identification of genetic variation associated with Chiari I malformation

Lay summary

Chiari type I malformation (CM1) is one of the most common pediatric neurological conditions, affecting ~3% of individuals undergoing brain imaging. CM1 is characterized by the herniation of the cerebellum through the foramen magnum into the spinal canal, often leading to syringomyelia (SM), a fluid-filled cyst within the spinal canal. The genetic causes of CM1 and SM are poorly understood, but understanding these causes may improve diagnosis and treatment of these disorders, transforming the lives of affected individuals.  The goals of this proposal are to 1) Identify common genetic variation associated with CM1/SM risk using GWAS data from the UKBiobank, 2) Identify genes with increased burden of rare genetic variants associated with CM1 risk using exome sequencing data from the UKbiobank and 3) Identify radiological biomarkers that correlate with CM1 using MRI scans from the UKBiobank. This project will have a duration of 3 years with the potential to continue if the UKBiobank dataset continues to expand.