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
Other information
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2030 agenda goals for sustainable development
4, 5