MEDICAL GENETICS
cod. 14381

Academic year 2013/14
2° year of course - First semester
Professor
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:
course unit
in - - -

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
View the humane genome as a diagnostic tool to explorate

Prerequisites

- - -

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

- - -

Bibliography

Thompson & Thompson Genetics in Medicine Nussbaum RL McInnes RR Willard HF eds, Saunders Elsevier pub., Philadelphia 2007
and additional material from the teacher

Teaching methods

Oral lectures integrated with a laboratory experience to introduce the students to the professional applications of the arguments of the course

Assessment methods and criteria

The examination verifies the achievement of the goals of the course on knowledge, comprehension and application in the professional activities using a written open repose test whose scope is to verify the correct knowledge and comprehension of the arguments treated end their application in the professional environment

Other information

- - -