OVERVIEW

Extensionson the most important issues of Medical Genetics, from different pattern of inheritance to technologies of genome analysis and problems concerning prenatal and post-natal genetic diagnosis.

AIMS AND CONTENT

LEARNING OUTCOMES

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.

AIMS AND LEARNING OUTCOMES

Participation to the proposed learning activities by taught classes, together with the individual study will allow students to

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

Learn about most important inherited diseases and their clinical implications.

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

Learn about the most important genetic tests (diagnostic, presymptomatic, predictive and prenatal). Indications, purposes and peculiarities.

Learn about the most important purposes and how to use genetic counselling.

TEACHING METHODS

The course consists of 10 hours of taught classes on all the topics listed above. The last part of each lesson is dedicated to solving simple genetic problems.

Please refer to AulaWeb for any specific communication regarding possible changes related to COVID19 pandemic.

SYLLABUS/CONTENT

Human Mendelian inheritance: basics and extensions, selected examples.

Cytogenetics: numerical and structural chromosomal anomalies, main methodologies of analysis.

Molecular bases of inherited diseases: examples and methodologies of diagnosis.

Genetic tests: different types, purposes and applications in pre- and post-natal settings.

Genetic counselling (definition and purposes).

RECOMMENDED READING/BIBLIOGRAPHY

Slides and all the material used during taught classes will be provided to students together with the indication of selected and specific websites useful to deepen the different topics.

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

• Maurizio Clementi “Elementi di Genetica Medica” EdiSES, 2020

TEACHERS AND EXAM BOARD

Exam Board

ADRIANO DESSYPRIS

BARBARA GALANO

NICOLA NIGRO

RENATA BOCCIARDI (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

Lessons will start in the second semester, generally in the first week of march according to the calendar published on Aulaweb and on the Unige WEB Agenda available at https://easyacademy.unige.it/portalestudenti/).

Class schedule

MEDICAL GENETICS

EXAMS

EXAM DESCRIPTION

For the Medical Genetics section, the exam consits of a written test with both open and multiple choice questions.

The examination for the integrated course is made up of a single written exam for the 3 sub-sections. In order to pass the examination the student has to reach a mark of at least 18/30.

The total amount of time allowed for the examination is around 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.

In relationship to the evolution of the COVID19 pandemic, the exam may be transformed in an oral examination through a web platform provided by Unige. Please refer to AulaWeb for any specific communication regarding this important issue.

ASSESSMENT METHODS

Students are assessed by a final exam aiming at ensuring 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 the family history, describe the main mendelian inheritance patterns.

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

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

The indications and purposes of a specific molecular genetic test; aims and importance of the genetic counselling.

Exam schedule

FURTHER INFORMATION

Please directly contact Teacher by phone +010-56362725 or email bocciardi@unige.it

Bocciardi Renata

Affiliation

DINOGMI

University of Genova

UOC Genetica Medica

IRCCS Istituto Giannina Gaslini

Via G. Gaslini, 5

16147 Genova

Tel. 010/56362725