OVERVIEW

Introduction to the most important issues of Medical Genetics, from different pattern of inheritance to technologies of genome analysis and problems concerning prenatal and preimplantation genetic diagnosis, including current law tendencies.

AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

The teaching aims to provide students of medical training about consequences in clinical practice of medical genetics and new diagnostic genetic tools now available.

At the end of the teaching the student will be able to:

• Drawing-up of a family pedigree on the basis of family history.
• Using the family tree as help in diagnosis of inherited diseases frequently observed in the Italian population.
• Knowledge about the most important inherited diseases and their clinical consequences.
• Knowledge about the most important conditions associated with chromosome defects and genetic tests used for their diagnosis.
• Knowledge about the features of most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).
• Knowledge of the  indications for a molecular genetic test.
• Knowledge of the the most important purposes and how to use genetic counselling.
• Knowledge of individual and  ethical problems concerning the diagnosis of inherited diseases.

TEACHING METHODS

The course consists of 12 hours of lessons on all topics of the program, the last part of each lesson is dedicated to simple genetic problems solving.

SYLLABUS/CONTENT

Human Mendelian inheritance: the phenotype analysis.

Drawing-up of a family pedigree on the basis of family history.

Different patterns of inheritance: autosomal dominant and recessive, X-linked.

Molecular genetic approach to inherited human diseases, including the methods of next generation sequencing (NGS).

Extension of Mendelian inheritance with examples.

Cytogenetics: karyotype analysis, numerical and structural abnormalities.

Prenatal genetic diagnosis: purposes and diagnostic tecniques.

Preimplantation genetic diagnosis: purposes and current law tendencies.

Gene frequencies in populations: elementary basis.

Multifactorial traits: elementary basis.

Pharmacogenetics: elementary basis.

Features of the most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).

Genetic counselling: the most important purposes and how to use it.

RECOMMENDED READING/BIBLIOGRAPHY

All the topics covered in class can be found in the ”Aula Web” (https://www.aulaweb.unige.it)

Any other, more in-depth material is mentioned in the following textbooks:

- Maurizio Clementi “Elementi di Genetica Medica” EdiSES, 2016

- Neri G, Genuardi M “Genetica Umana e Medica”- Ediz. Masson

TEACHERS AND EXAM BOARD

Exam Board

LILIANA BELGIOIA

EMILIA BELLONE

RENATA BOCCIARDI

SVEVA BOLLINI

WILLIAM BRUNO

EMILIO DI MARIA

ROBERTO EGGENHOFFNER

PAOLO GIANNONI

MASSIMO MARESCA

FRANCESCO MASULLI

ALDAMARIA PULITI

GIANNI VIARDO VERCELLI

FRANCESCA LANTIERI (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

I semester, from November 2020.

EXAMS

EXAM DESCRIPTION

Written test ( 10 multiple choice questions) for the Medical Genetics module.
The examination for the Integrated Teaching   is made up of a single written exam for the 4 sub-sections (10 multiple choice questions per each module). In order to pass the examination the student has to reach a mark of at least 24/40 (18/30).

The total amount of time allowed for the examination is 60 minutes.
Students enrolled in other universities or other Degree Courses who are only required to sit for some of the modules  must achieve an average mark of at least 6, 12 or 18, depending on the number  of modules.

ASSESSMENT METHODS

Students are assessed ­by a final exam alone which aims to ensure that they have actually reached the required level of knowledge.

In order to pass the examination the student must reach a mark of at least 18/30.   

Exam schedule

FURTHER INFORMATION

All the topics covered in class can be found in Aula Web (https://www.aulaweb.unige.it).