GENETIC
cod. 1000277

Academic year 2008/09
1° year of course - First semester
Professor
Academic discipline
Patologia generale (MED/04)
Field
Discipline mediche e riproduzione umana
Type of training activity
Characterising
10 hours
of face-to-face activities
1 credits
hub: -
course unit
in - - -

Integrated course unit module: THE MOLECULAR MECHANISMS OF DISEASE

Learning objectives

To provide the molecular mechanism underlying genetic diseases

Prerequisites

Knowledge of molecular biology is strongly recommended

Course unit content

<p> The course will provide the essential elements concerning the molecular mechanisms of genetic diseases. Examples of some genetic diseases highly frequent in humans will be provided. Some of the most frequent genetic diseases in the human species and the methods of diagnosis of genetic and chromosomal disorders will be described in detail. In particular the following topics will be developed: Inheritance of the pathologic characters. Structural and numerical chromosomal aberrations. Examples of genetic diseases: Cystic fibrosis, Emoglobinopatie, Family Hypercholesterolemia, Phenylketonuria, Marfan syndrome, Osteogenesis imperfecta, Ehlers-Danlos Syndromes. Methods of diagnosis of genetic diseases: cytogenetic, biochemical tests, analysis of DNA, tests on maternal body fluids</p>

Full programme

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Bibliography

Robbins e Contran “Pathologic basis of disease” 7° Ed. Kumar- Abbas – Fausto

Teaching methods

Audiovisual tutorials will be used during the lessons. <br />
The tutorials will be provided to the students. <br />

Assessment methods and criteria

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Other information

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