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/legislative tendencies.

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

SYLLABUS/CONTENT

Human Mendelian inheritance: the phenotype analysis.

Drawing-up 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/legislative tendencies.

Gene frequencies in populations: elementary basis.

Multifactorioal traits: elementary basis.

Pharmacogenetics: elementary basis.

Features of 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

Teaching methods

The course consists of 10 hours of  lessons on all topics of the program, the last part of each lesson  is dedicated to solving simple genetic problems.

LESSONS START

I semester from october 2020

Exam description

Written test (10 multiple choice questions) for the Medical Genetics section.
The examination for the integrated course  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 sub-sections  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 and to reach a mark of at least 18/30,  the students must prove their knowledge on :
 

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 most important inherited diseases and their clinical implications.

Knowledge about most important conditions associated with chromosome defects and genetic tests used for their diagnosis.

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

Knowledge of the indications for a molecular genetic test.

Knowledge of the most important purposes and how to use genetic counselling.

Knowledge of  individuall and ethical problems concerning the diagnosis of inherited diseases.

Exam schedule