Work package #6

Work package #6: Vascular malformations (Institute of Human Genetics)
WP leader: Prof. U. Felbor

Cavernous vascular malformations occur with a frequency of 1:200 causing recurrent headaches, seizures, and hemorrhagic stroke if located in the brain. Familial cerebral cavernous malformations (CCM) have been associated with germline mutations in CCM1/KRIT1, CCM2 or CCM3/PDCD10. While CCM3 remains to be a molecule of unknown structure and function, CCM1 and CCM2 have recently been reported to regulate vessel formation and to promote vascular integrity at the interface between the endothelial cytoskeleton and the endothelial cell junctions. The use of transparent zebrafish models is a promising method to screen for new drugs in cavernous vascular malformations. Therefore we aim at improving the S&T experience and knowledge of researchers in zebrafish live imaging using two-photon microscopy.