MEDICAL GENETICS
cod. 03553

Academic year 2020/21
2° year of course - First semester
Professor
PERCESEPE Antonio
Academic discipline
Genetica medica (MED/03)
Field
Scienze e tecniche di laboratorio biomedico
Type of training activity
Characterising
28 hours
of face-to-face activities
4 credits
hub: PARMA
course unit
in ITALIAN

Integrated course unit module: GENERAL PATHOLOGY AND MEDICAL GENETICS

Learning objectives

This course is for the knowledge and comprehension of mechanisms of genetic characters inheritance and to their future specific professional application.
At the end of this course the student should have a good knowledge and comprehension of the following topics:
The mechanisms of transmission of mendelian traits and the relative physical and molecular basis
The mechanisms of transmission of quantitative characters of common traits and the gene environment interaction
The mechanisms of the more frequent chromosomal mutations
The mechanisms of the more frequent molecular diseases
Once acquired this background, the student should be able to perform the following activities:
Indentify a genetic problem in a professional environment
Comunicate the problem in a correct way with the correct words
Collaborate with other medical compentences involved in diagnosis and therapy

Prerequisites

none

Course unit content

The first part of this course focuses on mechanisms of genetic characters inheritance, starting from the seminal experiments of Mendel and Morgan, their physical basis (chromosomal theory of inhertitance) and their extension to the man. Single gene inheritance and multifactorial nheritance of common characters are considered.
The second part of the course is on the definition of what a gene is and how it works and how is work is regulated, on applications of genetics to medicine, in particular to diagnostic methods appled to risk calculation. Finally the students are introduced to the more recent methods in molecular genetics and to their applications.

Full programme

The genetic bases of human diseases
Mendel Laws of inheritance and their applications
The human chromosomes and their numerical and structural abnormalities
The structure of the human genome
DNA mutations: classification, main features and effects
Applications of formal genetics to the human diseases

Bibliography

Novelli G - Giardina E : Genetica medica pratica, Aracne editrice, Roma

Teaching methods

Lectures and one-time visit to a diagnostic laboratory

Assessment methods and criteria

Multiple choices questionnaries plus open questions

Other information

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