MEDICINE AND SURGERY | University of Parma

Professor: Antonio PERCESEPE
Academic discipline: Genetica medica (MED/03)
Field: Discipline pediatriche
Type of training activity: Characterising

10 hours
of face-to-face activities

1 credits

hub: PARMA

course unit
in ITALIAN

lectures timetable unavailable

exam calls

Integrated course unit module: GENERAL AND SPECIALIST PEDIATRICS (ANNUAL) (PETSE)

Learning objectives

To provide the bases for the understanding of the main disorders with a genetic, genomic or chromosomal basis with a pediatric onset

Prerequisites

Preliminary knowledge of:
• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism

Course unit content

Applications of Medical Genetics ot the Pediatrics: the genetic diseases with pediatric onset

Full programme

- Examples of autosomal dominant diseases:
The rasopathies, definition and main clinical pictures
- Examples of multisystemic diseases:
i. Neurofibromatosis type 1 (diagnostic criteria and follow-upCriteri diagnostici e follow-up)
ii. Neurofibromatosis type 2 (diagnostic criteria and follow-up)

- Examples of autosomal recessive diseases:
a. Cystic fibrosis: genotype/phenotype correlation and concepts about residual risk after genetic testing
b. Congenital deafness: syndromic and non-syndromic forms

- Examples of X-linked diseases:
a. Fragile X s.

- Chromosomal aneuploidies and main clinical pictures
- Microdeletion/microduplication s.:
a. Cri-du-chat s.,
b. Wolff Hirschhorn s.,
c. Di George s.,
d. Angelman s.,
e. Prader Willi s.,
f. Williams s.
g. Smith Magenis s.

- L'esoma nelle malattie non diagnosticate

Bibliography

G. Neri e M. Genuardi: GENETICA UMANA E MEDICA. Elsevier Masson ed., V edizione, 2024

Thompson & Thompson: GENETICA IN MEDICINA. Masson, 2018

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries

Other information

- - -

2030 agenda goals for sustainable development

Code 4 - Quality formation

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