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MOLECULAR PATHOLOGY

Academic year and teacher
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Versione italiana
Academic year
2014/2015
Teacher
SUSAN NELLA TREVES
Credits
6
Didactic period
Primo Semestre
SSD
MED/04

Training objectives

The aim of the course is to elucidate the molecular mechanisms underlying genetic disorders and to illustrate how different techniques are used in diagnostic laboratories.

Prerequisites

General pathology, biochemistry and human genetics

Course programme

General concepts of Molecular Pathology
Mutations and heredity
Methods in molecular pathology
Diagnosis and pharmaocogenetics
Molecular pathology of cancer
Neuromuscular disorders: ryanodinopathies
Neuromuscular disorders: Myotonic dystrophy
Metobolic disorders
Cystic fibrosis
Oral presentation of a selected topic by each student

Didactic methods

Lectures and scientific articles

Learning assessment procedures

A Power point presentation by each student of a genetic disorder of their choice. Each presentation should last approximately 20 minutes.
Written exam.

Reference texts

Principles of Molecular Pathology
Anthony A. Killeen , Humana Press, Totowa, New Jersey 2010
In addition each student is to chose an article that he/she will use for the oral presentation.