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.
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.
The course consists of 10 hours of classroom lessons on all topics of the program, the last part of each lesson is dedicated to simple genetic problems solving.
Human Mendelian inheritance: the phenotype analysis.
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.
Ricevimento: -Students must make an appointment to talk to professors (e-mail, phone).
Ricevimento: Students must make an appointment to talk to professors. e-mail phone
EMILIA BELLONE
GIOVANNA BIANCHI
RENZO GIACINTO CORVO'
ROBERTO EGGENHOFFNER
MARINA RIBAUDO
GIANNI VIARDO VERCELLI
FRANCESCA LANTIERI (President and Coordinator of Integrated Course)
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.
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.
