CODE 95307 ACADEMIC YEAR 2022/2023 CREDITS 1 cfu anno 1 9289 (L/SNT3) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR MED/03 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER 1° Semester MODULES Questo insegnamento è un modulo di: BIOLOGY AND GENETICS TEACHING MATERIALS AULAWEB 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 The Course aims to introduce students to the basic and most relevant aspects of medical genetics. At the end of the course students will achieve the following outcomes important in the current clinical practice of medical genetics. At the end of the teaching and learning activities students will be able to: use the family pedigree to define inheritance patterns, instrumental for the diagnosis of the most frequently observed diseases (in the Italian population) know inheritance pattern of transmission, molecular pathogenic mechanisms and their clinical consequences of the most common hereditary diseases know the most frequent conditions associated with chromosome abnormalities and genetic tests used for their diagnosis. know the features of the main genetic tests (diagnostic, presymptomatic, predictive, prenatal) determine the appropriateness of a genetic test. know the main goals and methods of genetic counseling know individual concerns and ethical problems related to the diagnosis of inherited diseases. retain and use the proper scientific terminology. TEACHING METHODS Class will be managed as frontal lectures on all topics of the program with Power Point presentations. The last part of each lesson will be dedicated to simple genetic problems solving. Students can take advantage of online material, available on the AulaWeb page (https://www.aulaweb.unige.it). At the end of the Course, students will be allowed to access a simulation, and subsequent collective correction, of exam tests. If necessary, lessons may be provided on-line, through specific platforms provided by the University, in relationship with the dispositions related to the Public Health situation. SYLLABUS/CONTENT Human Mendelian inheritance: the phenotype analysis. Drawing-up a family pedigree on the basis of the family history. Different patterns of inheritance: autosomal dominant and recessive, X-linked. Molecular genetic approach to inherited human diseases, including methods of massive sequencing (Next Generation Sequencing - NGS). Features of the most important genetic tests (diagnostic, presymptomatic, predictive and prenatal). Extension of Mendelian inheritance with examples. Cytogenetics: karyotype analysis, numerical and structural abnormalities. Prenatal genetic diagnosis: purposes and diagnostic techniques. Preimplantation genetic diagnosis: purposes and current law tendencies. Gene frequencies in populations: elementary basis Multifactorial inheritance: fundamental basis. Pharmacogenetics: fundamental basis. Genetic counselling: the most important purposes and how to use it. RECOMMENDED READING/BIBLIOGRAPHY Power point notes of class lessions are available for students to be downloaded from AulaWeb page (https://www.aulaweb.unige.it).Files are strictly for personal use only; files must not be shared on social media, posted on any internet website or put on any sharing platform; files must not be printed out for sale or photocopied. Any other, more in-depth material is mentioned in the following textbooks: Maurizio Clementi “Elementi di Genetica Medica”, II edizione, EdiSES, 2020 Neri G, Genuardi M “Genetica Umana e Medica”, terza edizione, Ediz. Masson. TEACHERS AND EXAM BOARD EMILIA BELLONE Ricevimento: Prof. Emilia Bellone: contact by email: email@example.com. LESSONS LESSONS START According to the formal communication provided by the competent office of each Faculty/School. Class schedule L'orario di tutti gli insegnamenti è consultabile all'indirizzo EasyAcademy. EXAMS EXAM DESCRIPTION The exam is a written text (multiple choice questions) - either to be taken on-line or in presence- during which students are requested to answer 10 questions spanning through all main items presented during the course. The test will be timed, allowing 10 minutes for each set of 10 questions (this applies both for on-line and in presence test sessions). ASSESSMENT METHODS The exam aims to verify the students’ required level of knowledge and understanding about topics debated during the course, concerning the most frequent hereditary diseases in Italian population, the main types of genetic tests, the main causes of chromosomal abnormalities and the problems related to prenatal/preimplantation genetic diagnosis. Moreover, the exam will allow to evaluate the reached skills in distinguishing the inheritance of a disease through family pedigree analysis. FURTHER INFORMATION Registration for the exams is strictly limited to the on-line registration system. No students will be allowed to take the exam if not enrolled or if enrolled by any other means. If students experience troubles/inconveniences while enrolling, they are strongly encouraged to contact the on-line student service IN ADVANCE to the enrolment deadline. Topics covered during lessons are summarized by the power-point presentations available on the AulaWeb page (https://www.aulaweb.unige.it). Registration for the exams is strictly limited to the on-line registration system. No students will be allowed to take the exam if not enrolled or if enrolled by any other means. If students experience troubles/inconveniences while enrolling, they are strongly encouraged to contact the on-line student service IN ADVANCE to the enrolment deadline. Topics covered during lessons are summarized by the power-point presentations available on the AulaWeb page (https://www.aulaweb.unige.it).