GENERAL PATHOLOGY AND MEDICAL GENETICS
LEARNING OUTCOMES OF THE COURSE UNIT
The objectives of the integrated course are to enable the acquisition of knowledge and understanding about etio-pathogenetic mechanisms of human diseases with their related essential notions of semeiotic and medical terminology , physio-pathology and basics of genetics applied to medicine. The course aims to provide students with the tools and the theoretical concepts for the understanding of the basic principles of genetics as well as an interpretation of the main disorders especially in light of the most modern molecular research methods. Main objective of the course is to allow the student to apply the knowledge gained to the understanding the etiology and pathogenesis and to acquire useful skills for future employment.
By applying this knowledge critically acquired, the student will be able to use the most common molecular analysis methods, use basic bioinformatic programs with open access, critically evaluate the options when choosing a method of investigation and set up a working protocol
COURSE CONTENTS SUMMARY
The integrated course provides the fundamental knowledge about general alteration of growth and death, cellular and molecular oncology, physiopathology and human hereditary diseases their modes of transmission and the diagnostic approach used in the medical clinic.
The course aims to provide the knowledge of the main techniques used in the diagnosis of genetic diseases, in order to understand their potential in applications in the field of medical genetics.
Parola M. “Patologia Generale” EDISES
Pontieri G.M. “Elementi di Patologia Generale” III edizione PICCIN
Pontieri G.M. Patologia generale e fisiopatologia generale III edizione PICCIN
Genetica umana e medica.
G. Neri, M. Genuardi
Material provided by the teachers.
ASSESSMENT METHODS AND CRITERIA
Learning outcomes will be verified through an oral examination. Questions on the topics relating to the course will be used to test knowledge and understanding of the student in the discipline, and her/his ability to apply such knowledge and understanding in occupational contexts
The topics in the program will be presented and discussed through lectures, with the aid of iconographic material, trying to involve the student so that it can be an active part of the lesson.
Lectures will be supplemented by attendance in the laboratory, to train the student to the application of the learned concepts.
Cellular alterations of growth and differentiation. Necrosis and apoptosis.
Definition, nomenclature, and biological properties of benign and malignant neoplasms. Molecular basis of cancer. Protooncogenes, oncogenes. Tumor suppressor genes. Diagnosis and biological basis of anti-neoplastic therapies.
Transmission patterns of single-gene disorders (Familial hypercholesterolemia, cystic fibrosis, sickle cell disease).
Atherosclerosis, trombosis, angina and myocardial infarction. Diabetes mellitus.
Physiopathology of respiratory apparatus and gastroenteric system.
Structure and function of genes and the human genome
Changes in the human genome: classification of mutations and effect on the phenotype.
Human chromosomes, chromosomal syndromes and genomic disorders.
Classical Mendelian inheritance, autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, genetic heterogeneity.
Atypical mechanisms of inheritance.
Distribution of genes in populations. Hardy-Weinberg law. Linkage disequilibrium
Effects of somatic mutations and genetic oncology. Types of genetic alteration in tumors. Oncogenes. Tumor suppressor genes. Mutator genes.
Genetic basis of drug response. Pharmacogenetics and pharmacogenomics. Cancer pharmacogenomic. Pharmacogenetics and personalized medicine.
Will be considered some of the most important genetic diseases: diseases of genomic imprinting defects, diseases by dynamic mutations, neuromuscular diseases, hemoglobinopathies, phacomatosis, congenital diseases of metabolism, disease of sensory organs, disease of sexual development.
Molecular analysis of nucleic acids. Extraction of nucleic acids. Electrophoresis of nucleic acids. Nucleic acid hybridization. Blotting. PCR: the principle of the method and its applications. Real Time PCR and its applications. High Resolution Melting (HRM). Methods to search known mutations in the DNA (RFLP, ASO, ARMS, OLA, etc.). Methods for the detection of unknown mutations in the DNA. Traditional sequencing, pyrosequencing and next-generation sequencing (NGS).
Molecular cytogenetics: FISH, array-CGH, SNP-array.