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Cerebral Cavernous Malformations (CCM)

Cerebral Cavernous Malformations (CCM; OMIM 116860) are common cerebrovascular lesions that either occur sporadically, or are inherited, and can cause clinical symptoms, including seizures, focal neurological deficits, and hemorrhagic stroke. The most severe forms of familial CCM are associated with mutations in CCM3. Using a mouse model that develops vascular lesions highly similar to human cavernomas, we established that CCM3 has an important role in the neurovascular unit through cell autonomous as well as cell non-autonomous functions. We continue to pursue our recent finding that combined therapy with fluvastatin and zoledronate act synergistically to reverse outcomes of CCM3 loss in preclinical models of CCM. Our goal is to understand the basic biology of CCM3 and investigate the molecular and cellular mechanisms underlying lesion formation to inform rational therapeutic approaches for CCM.