Vai al contenuto principale Vai al footer
Università degli Studi di Parma Università degli Studi di Parma
Second cycle degree course in
Medical, veterinary anf pharmaceutical biotechnologies
Università degli Studi di Parma
Department of Medicine and Surgery

GENETIC
cod. 1000188

Academic year 2009/10
1° year of course - First semester
Professor
Academic discipline
Patologia generale (MED/04)
Field
Discipline biotecnologiche comuni
Type of training activity
Characterising
16 hours
of face-to-face activities
2 credits
hub: -
course unit
in - - -
lectures timetable unavailable
exam calls

Integrated course unit module: THE MOLECULAR MECHANISMS OF DISEASE

Print

Learning objectives

To provide the molecular mechanism underlying genetic and metabolic diseases

Prerequisites

Knowledge of molecular biology is strongly recommended

Course unit content

 The course will provide the essential elements concerning the molecular mechanisms of genetic diseases. Examples of some genetic and metabolic 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. Metabolic diseases: diabetes, steatosis, amiloidosis, Alzheimer disease.

Full programme

- - -

Bibliography

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

Teaching methods

Audiovisual tutorials, employed during the lessons, will be provided to the students

Assessment methods and criteria

- - -

Other information

- - -