Genomics for the diagnosis of human pathologies
Location: DIBIT2 C1, Floor 3, Room 36
Senior researcher, Genomics for the diagnosis of human pathologies Unit
Paola’s scientific interest is focused on the study of human hereditary diseases and genetically predisposed clinical conditions by applying genomic approaches as well as classical molecular genetics studies. Her research activity is focused on the detection of molecular defects and correlation with clinical features with particular respect to pediatric, kidney, and neurological disorders in the field of both monogenic and multifactorial traits, contributing to the precision medicine. Significant efforts are devoted to the set-up of validated and standardized protocols including variants collection and classification with respect to their pathogenicity, taking into account participation to the International organization “Human Variome Project”, working to ensure a careful and accurate documentation of genome variants related to human disease, to improve diagnosis, prevention, and treatment of human disease. In addition to the research, Paola Carrera coordinates the diagnostic laboratory active in the molecular testing of inherited disorders. The laboratory is certified since 1998.
Paola Carrera holds a BSc in Biological Sciences and Specialized in Biotechnology and Medical Genetics, earned at Università Degli Studi in Milan. Her post-doctoral studies focused on the study of protein biogenesis and targeting; after joining the San Raffaele Scientific Institute, in 1988, she focused more deeply on genetic studies, introducing in the lab new molecular methods.