Medicine and surgery | University of Parma

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

lectures timetable

exam calls

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

- - -

MEDICAL GENETICS cod. 1009787