CBMR’s cardiovascular research aims to identify novel genes or alterations in gene expression leading to congenital malformations or other heart conditions/pathologies by identifying candidate gene-variants in cohorts of patients. The contribution of identified gene alterations/mutations will be determined using animal- and cell models. Patient-specific somatic cells will be reprogrammed into induced pluripotent stem cells that retain the mutations of interest in the overall genetic context of the patient. The functionally validated genes may become useful as genetic markers for better predictions of susceptibility, time course, severity, and treatment outcomes, as well as the development of novel prophylactic approaches to limit disease severity and patient management prior to onset. CBMR will also investigate the role of gut microbiota in congenital heart, cardiovascular and metabolic disease (atherosclerosis, diabetes, and obesity).
PI’S: Gustavo Tiscornia, Leonor Faleiro, José Bragança, Isabel Palmeirim, Rui Martinho, Raquel Andrade.