Cerebral Cavernous Malformations (CCM)

From Genes and Mechanisms to Molecular-targeted Therapies: the Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease.- Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations.- Natural History, Clinical, and Surgical Management of Cavernous Malformations.- Molecular Genetics Screening of CCM patients, An Overview.- Next Generation Sequecing (NGS) Strategies for Genetic Testing and Diagnosis of Cerebral Cavernous Malformation (CCM) Disease.- Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity.- Clinical Imaging of Cerebral Cavernous Malformations: Computed Tomography and Magnetic Resonance Imaging.- Neuroradiology: Differential Diagnosis, Follow-Up, and Reporting.- Surgical Management of Brain Cavernous Malformations.- Generation of CCM Phenotype by a Human Microvascular Endothelial Model.- Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease.- Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease.- CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease.- Dissection of the Role of CCM Genes in Tubulogenesis using the Drosophila Tracheal System as a Model.- Generation and Analysis of CCM Phenotypes in C. elegans.- Generation of Transgenic Lines of Zebrafish Expressing Fluorescently-tagged CCM Proteins to Study Their Function and Subcellular Localization within the Vasculature.- Vertebrate Models to Investigate CCM Pathogenesis: The Zebrafish and Mouse Model.- Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models using Inducible Cre-LoxP Strategy.- Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain.- Identification of the KRIT1 Protein by LexA-based Yeast Two-Hybrid System.- Crystallographic Studies of the Cerebral Cavernous