Course catalogue | University of Parma

Professor: - Antonio PERCESEPE
Academic discipline: Genetica medica (MED/03)
Field: Scienze biomediche
Type of training activity: Basic

20 hours
of face-to-face activities

2 credits

hub: UNIMORE

course unit
in ITALIAN

lectures timetable

exam calls

Integrated course unit module: Fundamentals of biomedical sciences

Learning objectives

The knowledge of the mechanisms responsible of the genetic diseases. Knowledge of the strategies for the prevention of the genetic diseases

Prerequisites

- DNA structure and its replication
- Chromosome structure and human karyotype
- Gene structure- Transcription and maturation of the mRNA

Course unit content

Genome variations and their relationship with diseases. Genetic and cytogenetic testing and their significance and use

Full programme

1. Mendelian inheritance and its mechanisms
2. Introduction to the genetic diseases and their etiologic classification
3. Genomic basis of the diseases: mechanisms, nature and consequences of the mutations
4. Genetic tests
5. Cytogenetics and the main chromosoma aneuploidies
6. Monogenic and multifactorial inheritance
7. The control of genetic diseases: genetic counselling and prenatal diagnosis

Bibliography

Elementi di Genetica Medica. M. Clementi. Edises Ed., 2020

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice test and open question

Other information

- - -

MEDICAL GENETICS cod. 03553