CODE 95308 ACADEMIC YEAR 2023/2024 CREDITS 5 cfu anno 1 MEDICAL-PHARMACEUTICAL BIOTECHNOLOGY 10598 (LM-9) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR MED/04 LANGUAGE English TEACHING LOCATION GENOVA SEMESTER 2° Semester MODULES Questo insegnamento è un modulo di: HUMAN GENETICS AND MOLECULAR PATHOLOGY AND LABORATORY TEACHING MATERIALS AULAWEB 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 aims to provide students with the fundamental elements about the pathways through which molecular alterations, either inherited or acquired, can lead to disease. At the end of the course the student should be able to: remember the main molecular alterations object of the course; understand how specific molecular alterations lead to changes in cellular functions and/or organ/organism pathophysiology; acquire a basic nomenclature in molecular pathology; critically analyze the issues they are asked during the examination, in the field of the program presented during the course. TEACHING METHODS The course is organized in frontal lessons held in English. 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. At the end of the course lessons will be organized where students will discuss with the professors one scientific paper related to the syllabus. In addition, students will attend a few laboratories in which they will become familiar with methodologies related to Molecular Pathology. SYLLABUS/CONTENT Molecular mechanisms of cell death Overview of inflammation and inflammatory cytokines Molecular pathology of blood cells: - Qualitative and quantitative molecular defects of innate immunity. - Autoinflammatory disorders - Cytotoxicity defects. - Molecular defects of erythrocytes: hemolytic anemia, defects of erythrocyte cell membrane, enzymatic defects, hemoglobin defects Molecular pathology of the immune system: - Mechanisms of tolerance. Autoimmune diseases. - Type I diabetes and multiple sclerosis - Solid organ transplantation - Hematopoietic Stem Cell Transplantation (HSCT) RECOMMENDED READING/BIBLIOGRAPHY Lecture notes and reviews covering the whole course will be available for the students in Aulaweb. The following reference textbooks are recommended: Kumar, Abbas, Aster - Robbins Basic Pathology, Elsevier Rubin, Strayer - Rubin’s Pathology: Clinicopathologic Foundations of Medicine, Wolters Kluwer Jameson, Fauci, Kasper - Harrison's Principles of Internal Medicine, McGraw-Hill Education Abbas A.K., Lichtman A.H., Pillai S. - Cellular and Molecular Immunology, Elsevier Parham P. - The Immune System, Garland Science TEACHERS AND EXAM BOARD 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. Address 1: Laboratorio di Immunologia Clinica e Sperimentale, Padiglione 2, Istituto G. Gaslini, L. go G. Gaslini 5 Address 2: Sezione di Patologia Generale - DIMES, Via L. Alberti, 2 CHIARA VITALE Ricevimento: By e-mail : chiara.vitale@unige.it By phone : 010-5558219 Exam Board CLAUDIA CANTONI (President) FEDERICO ZARA (President) RENATA BOCCIARDI ALDAMARIA PULITI PAOLO SCUDIERI NICOLA TRAVERSO CHIARA VITALE LESSONS LESSONS START II semester, March 2024 Class schedule MOLECULAR PATHOLOGY AND LABORATORY EXAMS EXAM DESCRIPTION The exam is carried out in English and consists of an oral test lasting about 30 minutes and takes place in the presence of the two professors. The student should demonstrate the ability to critically discuss all the subjects covered in the questions. Through the discussion of different topics, the professors verify the fulfillment of the expected learning outcomes. At the end of the oral examination the professors elaborate a mark deriving from the weighted mean of the partial marks, from the oral presentations of the paper and from an overall evaluation of the student. ASSESSMENT METHODS Each student will be examined about the contents of at least two topics of the syllabus, with questions apt to evaluate his/her knowledge and ability of connecting different parts of the course. In addition, the ability to explain how molecular alterations affect functionality of cells and organs will be assessed, as well as the proper usage of scientific terms.The knowledge and the definition of the basic elements of the subject are necessary for the achievement of the test. Proficiency in English language will not be evaluated, but it must be sufficient to show the students’ knowledge of the subjects, with an adequate level of linguistic expertise, especially in scientific language. Exam schedule Data appello Orario Luogo Degree type Note 24/01/2024 14:30 GENOVA Orale 16/02/2024 14:30 GENOVA Orale 19/06/2024 14:30 GENOVA Orale 02/07/2024 14:30 GENOVA Orale 22/07/2024 14:30 GENOVA Orale 11/09/2024 14:30 GENOVA Orale 25/09/2024 14:30 GENOVA Orale