DC6: Genotype/phenotype and epi-genotype correlations, immune phenotype in CPs-CHUM
DC6 – (CHUM) will adopt the developed zebrafish model for KS to determine the effects of epi-drugs in restoring the neuronal and immune dysfunctions. DC6 will determine the efficacy of combinatorial treatments with respect to the monotherapy approach, taking into consideration the maximal tolerated doses and the possible adverse responses.
DC6 will analyze the genotype/phenotype correlations, referring to immune dysfunctions in individuals affected by KS, CdLS, CS and/or RT. According to good clinical practices and local ethic committees, DC6 will perform sample collection to create a biobank of lymphoblastoid cell lines and primary fibroblasts, as well as freshly isolated lymphocytes, in respect of affected individuals and their legal representative’s decision. Based on clinical and molecular data, DC6 will perform retrospective analyses to identify specific genetic features to prioritize patients for their responsiveness to therapeutic approach alleviating the immune dysfunctions and the associated pathogenicity.