Genetics and molecular pathology

Discipline Integrated course
Denomination Genetics and molecular pathology
Modules 2
CFU 10



This teaching course includes the following modules
Module Medical genetics
Credit 5
SDS MED/03
Description 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.
Module Molecular pathology
Credit 5
SDS MED/04
Description 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.
Go back to list