Overview Familial Cerebral Cavernous Malformations (CCM) is an inherited disease caused by mutations in three genes (KRIT1/CCM1, CCM2, or PDCD10/CCM3). Intracranial hemorrhage (ICH) is a severe manifestation of CCM, which may lead to death or long-term neurological deficits. Clinical symptoms may differ including variable number or size of CCM lesions (ranging from a few to hundreds), even in family members who inherit the same gene mutation. This suggests a role for other factors that influence disease severity, such as genetic modifiers or somatic factors (i.e. tissue-specific DNA mutations) which may affect how the genes are regulated throughout development or disease progression. We lack medical therapies and biomarkers to know which CCM patients are at highest risk for having a hemorrhage or for developing more severe or bigger lesions. Hence, the identification of strong, non-invasive blood-based biomarkers for CCM disease severity would be useful to risk stratify patients at highest risk of hemorrhage and improve clinical management. Recent technological advances have provided promise for the non-invasive detection of somatic mutations in circulating cell-free DNA found in patient blood samples. Using this approach, we are investigating whether somatic mutations in CCM lesions are detectable in circulating cell-free DNA in the blood of CCM patients. The ability to non-invasively detect somatic mutations would be a better approach to investigate CCMs (especially in children) and ultimately identify a therapy that is tailored to the genetic defect. Affiliated Lab Center for Cerebrovascular Research Principal investigator UCSF Shantel Weinsheimer, PhD Assistant Adjunct Professor Helen Kim, MPH, PhD Professor in Residence Seeking collaborators We are interested in collaborating with investigators that use molecular profiling techniques to identify biomarkers for cerebrovascular disease. Email Us Support this research We are interested in donations to support our research efforts related to the identification of non-invasive molecular biomarkers for cerebrovascular disease. Support
Center for Cerebrovascular Research Biomarkers of Cerebral Cavernous Angioma with Symptomatic Hemorrhage (CASH)
Center for Cerebrovascular Research Predictors of growth, recurrence, and high-risk features in pediatric brain arteriovenous malformation (project 1)
Center for Cerebrovascular Research Investigating disparities and barriers in access to research and care for patients with Hereditary Hemorrhagic Telangiectasia (HHT)
Center for Cerebrovascular Research Epigenetic signatures and association with hemorrhage and high risk features in brain arteriovenous malformation
Center for Cerebrovascular Research Modifiers of disease severity and progression in familial cerebral cavernous malformation (BVMC 6201)
Center for Cerebrovascular Research Reduction of brain AVM severity through inhibition of pathogenic angiogenesis
Center for Cerebrovascular Research Cerebral hemorrhage risk in hereditary hemorrhagic telangiectasia (BVMC 6203)
Center for Cerebrovascular Research Integrated longitudinal studies to identify biomarkers and therapeutic strategies for Sturge-Weber Syndrome (BVMC 6211)
Center for Cerebrovascular Research IL-6 trans-signaling increases risk for perioperative neurocognitive disorders in aging and neurodegenerative diseases
Center for Cerebrovascular Research Cellular loci involved in the pathogenesis of brain arteriovenous malformations