Aim of the course is to describe the role of clinical molecular biology tests in Laboratory Medicine, with regards to acquired and inherited diseases. Clinical trials, basic researches and technological advances are treated in relationship with the predisposition to illnesses, clinical diagnosis and monitoring, with particular attention to the traditional and novel therapies.
Organization of the clinical molecular biology laboratory. Sample handling for nucleic acid extraction, purification and amplification. Internal and external quality control procedures. Pre-analytical factors. New bioinformatics for the development of functional genomics. Mass spectrometry in the study of clinical proteomics. Applications of clinical molecular biology: a) diseases with Mendelian inheritance (hemochromatosis, cystic fibrosis, genetic defects of red cells, congenital hypothyroidism); b) complex multigenic diseases (cardiovascular diseases, diabetes mellitus, amyloid diseases, malaria); c) relationship between phenotype and genotype in the clinical practice; d) genetic screening and counselling.
Reference Material C.A. Burtis, E.R. Ashwood, D.E. Bruns. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Fifth edition, Elsevier Saunders, St. Louis 2012.
Prerequisites and examination procedures Good background in General Pathology written exam (students attending all the lessons) written + oral (students attending