The course aims to make students understand the role of genetic testing in the clinical course of the patient. The course also aims to provide students who have no medical training the basic knowledge on the clinical aspects concerning the genetic basis of diseases. The course aims to provide an updated view of molecular biology techniques that are used in a clinical setting.
- Introduction and organization of the molecular biology laboratory
- Mendelian inheritance: Hemocromatosis
- The coagulation cascade; thrombophilia and deep vein thrombosis
- Mendelian inheritance: Cystic fibrosis
- Male infertility and Y microdeletions
- Prenatal diagnosis of genetic disease
- Genetic diseases and mental retardation
- Molecular biology in oncohematological diseases
- Genetics of hemoglobinopathies
|Neri G e Genuardi M||Genetica Umana e Medica (Edizione 3)||EDRA LSWR - Masson||2014||978-88-217-3743-4|
Written test, with open questions and multi choice questions.
The exam is based on all the course contents.
Examination methods are the same for students who attended and for those who did not attend the course.
The exam is passed if the evaluation is greater or equal to 18/30.
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