Discipline
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Integrated course
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Denomination
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Genetics and molecular pathology
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Modules
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2
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CFU
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10
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This teaching course includes the following modules
Module
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Medical genetics
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Credit
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5
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SDS
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MED/03
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Description
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Learning Objectives: Students are expected to understand the genetic bases of mendelian and complex diseases, analyzed by classic genetic approaches and by functional genomics. Contents: MONOGENIC AND MULTIFACTORIAL INHERITANCE - Mendelian inherited diseases Molecular bases of haemoglobinopathies Genetic counseling Complex traits and multifactorial inheritance Modifier genes and susceptibility genes. HUMAN GENOME ORGANIZATION AND VARIATION - Normal and pathogenic DNA variants The non-coding genome: structure and function of novel classes of small and long non-coding RNAs HUMAN GENE EXPRESSION - Chromatin conformation: DNA methylation and the histone code A comprehensive overview of transcription and its control: the ENCODE project Mosaicism and chimerism in humans Epigenetic memory and imprinting Molecular bases of X-inactivation and imprinting. GENOMEWIDE VIEW OF COMMON HUMAN DISEASES - Advanced approaches to the Identification of disease genes The genomics of cancer Tumor markers Therapeutic targets in cancer STUDYING HUMAN CHROMOSOMES - Classic cytogenetic analysis Molecular cytogenetics: FISH, chromosome painting, multicolor FISH, SKY, bandeggio multicolore, chromosome painting parziale regione-specifica, array CGH e CNV PRINCIPLES OF DEVELOPMENT - Early human development Cell specialization, pattern formation and morphogenesis Definition and classification of birth defects. EVOLUTIONARY GENETICS - Evolution of genes and traits Natural selection Molecular evolution and the neutral theory Evolutionary forces shaping human genome organization and function. POPULATION GENETICS - Factors affecting allele frequencies in human populations Using the Hardy-Weinberg relationship in genetic counseling DNA profiling and forensic genetics.
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Module
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Molecular pathology
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Credit
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5
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SDS
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MED/04
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Description
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Learning objectives: Knowledge of the basic processes underlying cardiovascular disease: myocardial ischemia, hypertension, cardiomyopathy, heart failure, lipid metabolism, atherosclerosis, Obesity, Metabolic syndrome.
Learning of the most advanced methods for the diagnosis and molecular therapy of these diseases Mechanisms of cell death: apoptosis, autophagy, entosis, necroptosis. Contents: 1) Mechanisms of cell death Necrosis, apoptosis, autophagy, entosis. 2) Lipid metabolism Lipoproteins, endogenous and exogenous metabolism. 3) Hyperlipidemias: classification, identification of major genetic defects underlying the most common forms Medical management based on the knowledge of the pathways of lipid biosynthesis. 4) Obesity: mechanisms regulating food introit Role of the hypothalamus Leptin, the Neuropeptide Y, the MSH Receptor Advantages of the study of animal models of obesity. 5) Pathophysiology of atherosclerosis Features of the blood vessel Cellular and molecular components involved in the formation of plaque The pathogenetic hypotheses of atherosclerosis Methods of invasive cardiology for the treatment of coronary lesions The coronary angioplasty, stents, drug-eluting stents. 6) The ischemic heart disease Definition Pathogenetic mechanisms Diagnosis Principles of therapy. 7) Hypertension: classification, pathogenesis Principles of therapy. 8) Heart failure - Definition Pathogenetic mechanisms Diagnosis Principles of therapy. 9) The stem cells in the treatment of cardiovascular diseases Definition of stem cells.
Identification and use of cardiac stem cells. 10) Cardiomyopathy: definition Pathogenetic mechanisms Major genetic factors.
Diagnosis Principles of therapy The anthracycline- and monoclonal antibodies-induced cardiotoxicity: pathogenic mechanisms.
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