MEDICAL GENETICS
cod. 1009787

Academic year 2023/24
3° year of course - First semester
Professor
Antonio PERCESEPE
Academic discipline
Genetica medica (MED/03)
Field
Clinica delle specialità medico-chirurgiche
Type of training activity
Characterising
10 hours
of face-to-face activities
1 credits
hub: PIACENZA
course unit
in ENGLISH

Integrated course unit module: Laboratory Medicine & Immunogenetics

Learning objectives

To acquire the basis for understanding the role of the Laboratory of Medical Genetics (Cytogenetics, Molecular Cytogenetics, Molecular Genetics, NGS) in the diagnosis of genetic diseases

Prerequisites

Knowledge of the genetic basis of the human diseases; of the classification and effect of the mutations; of the Mendelian inheritance and the calculation of recurrence risks

Course unit content

The course will focus on topics of cytogenetics and molecular cytogenetics, molecular genetics, Next generation sequencing, Immunogenetics in human diseases

Full programme

The course will focus on the following topics:
- Cytogenetics and molecular cytogenetics: the laboratory and the clinics
- Molecular genetics: genetic testing in human diseases
- Next generation sequencing for undiagnosed diseases
- Immunogenetics

Bibliography

Emery’s elements of medical genetics. Peter D Turnpenny 16° ed., 2021
Thompson & Thompson Genetics and Genomics in Medicine, 9th Edition, 2024 jan,

Teaching methods

Frontal lessons

Assessment methods and criteria

Written examination with multiple choice test and open questions

Other information

- - -

2030 agenda goals for sustainable development

4, 5

Contacts

Toll-free number

800 904 084

Student registry office

E.medicineandsurgery@unipr.it
 

Quality assurance office

Education manager:
Giovanna Caselli


Manager E  didattica.dimec@unipr.it

President of the degree course

Prof.Antonio Percesepe
E. antonio.percesepe@unipr.it

Faculty advisor TBD

Career guidance delegate TBD

Tutor Professor

[titolo] [nome] [cognome]
E. [email @unipr] 

Erasmus delegate

Prof.ssa Elena Masselli
E. elena.masselli@unipr.it
 

Quality assurance manager

Prof.Massimo Corradi 
E. massimo.corradi@unipr.it

Internships  TBD

Tutor students TBD