UAB Department of Neurosurgery Professor and Pediatric Neurosurgery Fellowship Program Director James Johnston, M.D., Assistant Professor Jesse Jones, M.D., and PGY2 Neurosurgery Resident Andrew Hale, M.D., Ph.D., were awarded the Kaul Pediatric Research Institute New Investigator Award at Children’s of Alabama for their project, "Endoluminal biopsy illuminates the genetic basis of vein of Galen aneurysmal malformation (VGAM) in children of African ancestry."

The grant was awarded in the amount of $70,000 and will fund the project from Feb. 2023 through Feb. 2025. 

Jones and Hale will work together as co-principal investigators, while Johnston serves as the project mentor.

Vein of Galen malformations (VOGM) are the most common and severe neonatal blood vessel anomaly of the human cerebral vasculature. Despite this, the cause of VOGM is largely unknown, but widely hypothesized to be caused by genetic abnormalities. 

Vein of Galen malformations are the result of abnormal connections between arteries, veins and capillary vessels during neonatal development, and, even with neurosurgical intervention, can cause potentially life-threatening systemic problems such as cardiac failure or increased intracranial pressure resulting in hydrocephalus. 

The goal of the project is to understand the genetic and molecular basis of VOGM using both germline and endoluminal biopsy techniques, and develop or repurpose pharmacologic therapies to improve VOGM treatment by aggregating genetic data and identifying causative genetic and molecular factors that govern the development of VOGM.

As a part of the project, Hale and Jones have also proposed the creation of the Vein of Galen Malformation Genetics Research Consortium (VOGM-GRC.) The Consortium will exist as an international multi-institutional network of the world’s leading pediatric neurosurgeons, endovascular specialists, vascular neurologists, geneticists and molecular biologists. 

It is projected that there will be 12 initial centers, including Vanderbilt and UCLA, associated with the VOGM-GRC. More centers across the country that have access to collect genetic samples from VOGM patients are expected to join the Consortium and its research mission.