Learning outcomes of the course unit
Main objective of the course is to provide the basics of genetics applied to medicine. The student must acquire skills in the field of medical genetics with a focus on the pathogenic mechanisms underlying different genetic diseases.
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 genetic disorders especially in light of the most modern molecular research methods.
Course contents summary
The course provides the fundamental knowledge about human hereditary diseases, the genetic mechanisms that cause them, their modes of transmission and the diagnostic approach used in the medical clinic.
The course covers the basic concepts of medical genetics, with particular reference to the diagnosis of Mendelian genetics and complex diseases, including chromosomal syndromes, imprinting defects, pharmacogenetics and cancer genetics.
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, etc.
Genetica umana e medica.
G. Neri, M. Genuardi
Assessment methods and criteria
The assessment of the achievement of the objectives of the course includes an oral examination for evaluating the knowledge and understanding of the content by the students.