MEDICAL GENETICS
cod. 14381

Academic year 2007/08
5° year of course - Second semester
Professor
Academic discipline
Genetica medica (MED/03)
Field
Discipline pediatriche
Type of training activity
Characterising
8 hours
of face-to-face activities
1 credits
hub: -
course unit
in - - -

Integrated course unit module: GENERAL AND SPECIALIST PEDIATRICS (ATT)

Learning objectives

<br /> Students must know basic principles of mendelian inheritance in man as well as of complex traits. Students must also know basic mutational events, both at gene and chromosomal level, and their phenotypic consequences. They have to know main molecular procedures for genetic testing in clinical settings and the importance of genetic counselling.<br />

Prerequisites

<br />Student must have basic knowledge in biology  and human genetics.

Course unit content

Topics include review of basic human genetics, elementary probability, pedigree and segregation analysis, cytogenetics, empirical risks,  and counseling practice with examples of common disorders, Mendelian genetics, conventional as well as recent developments and discoveries, principles of dysmorphology, biochemical and molecular genetics (genetic testing), teratogenesis and cancer genetics, prenatal diagnosis, genetic couselling, genetics screening, and ethical legal issues. Principles of gene therapy.

Full programme

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Bibliography

<br /><br />Dallapiccola B, Novelli G. Genetica medica essenziale. Minotauro Ed.2006<br />

Teaching methods

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Assessment methods and criteria

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Other information

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