Vein of Galen Malformations
Vein of Galen Malformations (VOGMs) are a rare type of developmental brain arteriovenous malformation (AVM). Interestingly, true VOGMs are, in fact, abnormal connections to the median prosencephalic vein. This median prosencephalic vein is the embryonic precursor of the mature Vein of Galen, and thus a true VOGM does not affect the Vein of Galen proper. This disease can be lethal if untreated and often leads to developmental delays with other neurologic abnormalities. We have published the largest whole-exome sequenced cohort of VOGM patients to date.
The Kahle laboratory's VOGM study aims to understand the pathogenesis of VOGMs through genetic sequencing and collaborations with highly experienced centers and physicians across the world. Affected individuals and their families are welcomed and encouraged to join!