| CODE | 68495 |
|---|---|
| ACADEMIC YEAR | 2020/2021 |
| CREDITS |
|
| SCIENTIFIC DISCIPLINARY SECTOR | MED/03 |
| LANGUAGE | Italian |
| TEACHING LOCATION |
|
| SEMESTER | 2° Semester |
| MODULES | This unit is a module of: |
| TEACHING MATERIALS | AULAWEB |
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.
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.
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.
The course consists of 10 hours of classroom lessons on all topics of the program, 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 COVID pandemia.
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.
Multifactorioal traits: elementary basis.
All the topics covered in class are transmitted to the students
Any other, more in-depth material is mentioned in the following textbooks
Maurizio Clementi “Elementi di Genetica Medica” EdiSES, 2020
Office hours: Please directly contact Teacher by phone +010-56362725 or email bocciardi@unige.it
NICOLA NIGRO
ADRIANO DESSYPRIS
RENATA BOCCIARDI (President and Coordinator of Integrated Course)
According to calendar.
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 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 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.
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.
| Date | Time | Location | Type | Notes |
|---|---|---|---|---|
| 19/01/2021 | 15:00 | GENOVA | Scritto + Orale | Aula De Toni DISC Anatomia Patologica universitaria II piano |
| 22/02/2021 | 15:00 | GENOVA | Scritto + Orale | Aula De Toni DISC Anatomia Patologica universitaria II piano |
| 01/06/2021 | 15:00 | GENOVA | Scritto + Orale | Aula De Toni DISC Anatomia Patologica universitaria II piano |
| 16/07/2021 | 15:00 | GENOVA | Scritto + Orale | Aula De Toni DISC Anatomia Patologica universitaria II piano |
| 20/09/2021 | 15:00 | GENOVA | Scritto + Orale | Aula De Toni DISC Anatomia Patologica universitaria II piano |
Students must make an appointment to talk to professors.(e-mail phone