MEDICINE AND SURGERY | University of Parma

Professor: Antonio PERCESEPE
Academic discipline: Genetica medica (MED/03)
Field: Discipline generali per la formazione del medico
Type of training activity: Basic

20 hours
of face-to-face activities

2 credits

hub: PARMA

course unit
in ITALIAN

lectures timetable unavailable

exam calls

Integrated course unit module: BIOLOGY AND GENETICS

Learning objectives

To give the basis of Human Genetics for the understanding of the pathogenesis of the diseases with a genetic basis

Prerequisites

None

Course unit content

Human Genetics

Full programme

Classification of the genetic bases of the human diseases: mendelian and complex diseases
Classification and effect of the DNA mutations
Human chromosomes and thier numerical and structural abnormalities
The mendelian inheritance: the autosomal dominant, autosomal recessive and X-linked inheritance
Consanguineity and the calculation of recurrence risksin the recessive disesase
Elements of population genetics: Hardy-Weinberg equilibrium and its applications for the calculation of the allelic and genotypic frequencies
Examples of bayesian calculations applied to the recurrence of disease with incomplete penetrance and to the X-linked diseases.
Genetic maps and linkage analysis: general principles
Multifactorial diseases and linkage disequilibrium
Atypical inheritance: digenic, mithocondrial, imprinting
Techniques of genetic and cytogenetic analysis

Bibliography

Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries

Other information

2030 agenda goals for sustainable development

- - -

Contacts

Toll-free number

800 904 084

Student registry office

E. [segreteria.medicina@unipr.it]
T. +39 0521 033700

Quality assurance office

Education manager

Giovanna Caselli
T. +39 0521 033851
Office E. didattica.dimec@unipr.it]
Manager E. [giovanna.caselli@unipr.it]

President of the degree course

[Prof.] [Marcello Giuseppe] [Maggio]
E. [marcellogiuseppe.maggio@unipr.it]

Faculty advisor

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it]

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it]

Career guidance delegate

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it]

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it]

Tutor Professors

[titolo] [nome] [cognome]
E. [email @unipr] (modificare link a email)

Erasmus delegate

[Prof.ssa] [Alessandra] [Dei Cas]
E. [alessandra.deicas@unipr.it]
[Prof.ssa] [Mara] [Bonelli]
E. [mara.bonelli@unipr.it]

[Prof.ssa] [Valentina] [Cannone]
E. [valentina.cannone@unipr.it]

[Prof.] [Andrea] [Ticinesi]
E. [andrea.ticinesi@unipr.it]

[Prof.] [Roberto] [Sala]
E. [roberto.sala@unipr.it]

Quality assurance manager

[Prof.] [Paolo] [Del Rio]
E. [paolo.delrio@unipr.it]

Internships

E. [adriana.calderaro@unipr.it ]

E. susannamariaroberta.esposito@unipr.it

E. aderville.cabassi@unipr.it

Tutor students