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Projects. Life and Matter Sciences

Modeling of familial cerebral cavernous malformation through cellular reprogramming

Lead Researcher: Miguel Ángel Fidalgo Pérez
Research Centre: Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), University of Santiago de Compostela (USC).


Miguel Ángel Fidalgo PérezFamilial cerebral cavernous malformation (FCCM) is a disease of genetic origin with a prevalence of 15 cases per 100,000 european people, for which there is no effective treatment. FCCMs are vascular lesions preferentially located in the central nervous system. These lesions are caused by mutations with loss-of-function in one of the three Ccm genes (Ccm1, Ccm2 or Ccm3) eventually leading to alterations in endothelial biology. Our knowledge of the genesis of the disease is very limited by the lack of an appropriate model to investigate its molecular basis, which makes it difficult to develop new therapeutic approaches. On the other hand, several evidences suggest that the loss of function of a particular Ccm gene, especially mutations in the Ccm3 gene, can affect the degree of severity of this disease, making it difficult to find a potential treatment. This project will address the development of an adequate model that allows the in-depth investigation of the molecular pathogenesis of FCCM, as well as the specific function of each Ccm gene in this pathology. To this end, we will combine the use of somatic cell reprogramming (iPSC) technology, -omics techniques and bioinformatics to find new targets that offer new therapeutic opportunities for this severe, and to date incurable genetic disease.

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