CODE 95305 ACADEMIC YEAR 2017/2018 CREDITS 10 cfu anno 1 MEDICAL-PHARMACEUTICAL BIOTECHNOLOGY 10598 (LM-9) - LANGUAGE English TEACHING LOCATION MODULES Questo insegnamento è composto da: HUMAN GENETICS AND LABORATORY MOLECULAR PATHOLOGY AND LABORATORY OVERVIEW The course of Molecular Pathology deals with the study of specific molecular alterations which lead to disease. AIMS AND CONTENT LEARNING OUTCOMES In-depth knowledge about inheritance as it occurs in human beings, and comprehension of the main molecular and cellular mechanisms related to the pathogenesis of inherited and acquired diseases. AIMS AND LEARNING OUTCOMES The course of Molecular Pathology aims to provide the students with the necessary knowledge to recognize how disease can arise from molecular alterations, with a particular focus on alterations of carbohydrates, lipids and proteins. TEACHING METHODS The course of Molecular Pathology is organized in frontal lessons. The topics included in the syllabus will be explained by the professor through PowerPoint presentations. Students will be triggered to ask questions and formulate answers in interactive modality. During the course lessons may be organized where students will be encouraged to discuss with the professor scientific papers related to the syllabus. SYLLABUS/CONTENT Molecular Pathology Molecular pathology of carbohydrates: pathogenesis and complications of diabetes mellitus. Molecular pathology of lipids: alterations of lipoprotein metabolism. Molecular pathology of aminoacids: phenylketonuria. Molecular pathology of blood cells and of the immune system: 1) Genetic defects of innate immunity. 2) Autoinflammatory disorders. 3) Genetic defects leading to autoimmune disorders. 4) Genetic defects of erythrocytes. 5) Genetic defects of platelets and coagulation. RECOMMENDED READING/BIBLIOGRAPHY Lecture notes and reviews covering the whole course will be available for the students in Aulaweb. TEACHERS AND EXAM BOARD ISABELLA CECCHERINI Ricevimento: By appointment by email: isa.c@unige.it CLAUDIA CANTONI Ricevimento: Students have the possibility to contact the teacher by e-mail (Claudia.Cantoni@unige.it) or by phone (010 56362845) and ask for an appointment. NICOLA TRAVERSO Ricevimento: By appointment by email: ntravers@medicina.unige.it o Nicola.Traverso@unige.it Exam Board CLAUDIA CANTONI (President) ISABELLA CECCHERINI (President) NICOLA TRAVERSO (President) LESSONS LESSONS START March 1, 2018 Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION The exam of Molecular Pathology consists of an oral test and takes place in the presence of the two professors. ASSESSMENT METHODS The exam consists of a written part (Genetics) and an oral part (Molecular Pathology). Molecular Pathology: each student will be examined about the contents of at least two topics of the subject, with questions apt to evaluate his/her knowledge and ability of connecting different parts of the course. The knowledge and the definition of the basic elements of the subject are necessary for the achievement of the test. When the educational objectives of teaching are not met, the student is invited to deepen the study and to ask the professors for further clarification. Exam schedule Data appello Orario Luogo Degree type Note Subject 22/01/2018 09:00 GENOVA Orale 22/02/2018 09:00 GENOVA Orale 21/06/2018 14:00 GENOVA Orale 10/07/2018 14:00 GENOVA Orale 24/07/2018 14:00 GENOVA Orale 07/09/2018 14:00 GENOVA Orale 21/09/2018 14:00 GENOVA Orale 22/01/2018 09:00 GENOVA Orale 22/02/2018 09:00 GENOVA Orale 21/06/2018 14:00 GENOVA Orale 10/07/2018 14:00 GENOVA Orale 24/07/2018 14:00 GENOVA Orale 07/09/2018 14:00 GENOVA Orale 21/09/2018 14:00 GENOVA Orale