CODE 95307 ACADEMIC YEAR 2017/2018 CREDITS 1 cfu anno 1 IGIENE DENTALE 9289 (L/SNT3) - SCIENTIFIC DISCIPLINARY SECTOR MED/03 TEACHING LOCATION SEMESTER 1° Semester MODULES Questo insegnamento è un modulo di: BIOLOGY AND GENETICS OVERVIEW (PRESENTATION) 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 CONTENT AIMS AND 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. TEACHING METHODS 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 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. Multifactorial 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” slides. 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 TEACHERS AND EXAM BOARD EMILIA BELLONE Ricevimento: -Students must make an appointment to talk to professors (e-mail, phone). LESSONS Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS 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. FURTHER INFORMATION All the topics covered in class can be found in the ”aula web” slides. Any other, more in-depth material is mentioned at the end of the lesson and can be found in the “aula web” slides. https://www.aulaweb.unige.it Students may take an appointment to talk to professor (ebellone@unige.it).
