CODE 72088 ACADEMIC YEAR 2024/2025 CREDITS 17 cfu anno 2 MEDICINA E CHIRURGIA 8745 (LM-41) - GENOVA LANGUAGE Italian TEACHING LOCATION GENOVA PREREQUISITES Propedeuticità in ingresso Per sostenere l'esame di questo insegnamento è necessario aver sostenuto i seguenti esami: MEDICINE AND SURGERY 8745 (coorte 2023/2024) BIOCHEMISTRY 58030 2023 Propedeuticità in uscita Questo insegnamento è propedeutico per gli insegnamenti: MEDICINE AND SURGERY 8745 (coorte 2023/2024) GENERAL PHYSIOPATHOLOGY 67362 MEDICINE AND SURGERY 8745 (coorte 2023/2024) PHARMACOLOGY I 67371 MEDICINE AND SURGERY 8745 (coorte 2023/2024) DERMATOLOGY, CLINICAL IMMUNOLOGY AND RHEUMATOLOGY 67377 MEDICINE AND SURGERY 8745 (coorte 2023/2024) GU TRACT AND ENDOCRINE DISEASES 67391 MEDICINE AND SURGERY 8745 (coorte 2023/2024) CARDIOLOGY AND PNEUMOLOGY 67384 MEDICINE AND SURGERY 8745 (coorte 2023/2024) PHARMACOLOGY 80794 MODULES Questo insegnamento è composto da: APPLIED BIOLOGY (GENERAL GENETICS) MOLECULAR BIOLOGY MEDICAL GENETICS (HUMAN GENETICS) MICROBIOLOGY EXPERIMENTAL PATHOLOGY TEACHING MATERIALS AULAWEB OVERVIEW The integrated course of Etiology and Pathogenesis of Diseases is divided in five modules, extending over the two semesters: Applied Biology (General Genetics), Molecular Biology, Medical Genetics (Human Genetics), General Pathology, and Microbiology. This course aims to introduce the student to the knowledge about the etiology and the pathogenesis of the diseases in humans both at the cellular and at the molecular levels. In addition, it aims to inform the student about the modern principles of the scientific method and medical research, including translational aspects. AIMS AND CONTENT LEARNING OUTCOMES The Integrated course aims to: deepen the basic knowledge of molecular biology; understand the principles of molecular diagnostics for Mendelian traits and diseases as well as the underlying mechanisms and consequences of gene mutations; deepen the general basis of inheritance; know the fundamental study methods of complex hereditary diseases; introduce the student to the knowledge of the etiology and pathogenetic mechanisms of diseases in humans and to analyze their main cellular and molecular aspects; deepen the pathogenic effects of metabolic alterations, toxic substances and ionizing radiations; study the biology of pathogenic microorganisms and their possible effects on host cells and tissues; analyze the various immunological mechanisms involved in the immune responses and the pathologies associated to an altered function of the immune system. PREREQUISITES In order to deal with the contents of the course, students should have a good knowledge in the fields of biochemistry, cellular biology, human anatomy, and histology. TEACHING METHODS Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liase and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes. TEACHERS AND EXAM BOARD PAOLA GHIORZO Ricevimento: Make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206 WILLIAM BRUNO Ricevimento: Prof. W. Bruno can be reached for an appointment by email (William.bruno@unige.it). The office address is: DIMI, II° floor, V.le Benedetto XV, 6. Online appointments (preferentially by Microsoft Teams platform) are offered. SONIA SCARFI' Ricevimento: Students may ask for explanations whenever they deem it necessary. They may write an email to soniscarfi@unige.it or by phone: 010 3350227. Scarfì's office it's located in Via A. Pastore 3 ( in front of Mente locale Bar), first floor through the fire escape. 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 GABRIELLA PIETRA Ricevimento: Students have the possibility to contact Gabriella Pietra by e-mail (gabriella.pietra@unige.it) or by phone (010 5558219) and ask for an appointment. CINZIA MARIA DOMENICOTTI Ricevimento: The reception of the students is agreed from time to time, according to the needs and deadlines, by e-mail to the following address: Cinzia.Domenicotti@unige.it The office is located at General Pathology Section - DIMES via LB Alberti 2- Genoa tel +39 010 3538830 GUIDO FERLAZZO VINCENZO DI PILATO Ricevimento: Mail contact: vincenzo@dipilato@unige.it GABRIELLA PIATTI ALDAMARIA PULITI Ricevimento: Please, make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova Exam Board WILLIAM BRUNO (President) VINCENZO DI PILATO (President) CINZIA MARIA DOMENICOTTI (President) GUIDO FERLAZZO (President) PAOLA GHIORZO (President) GABRIELLA PIETRA (President) ALDAMARIA PULITI (President) SONIA SCARFI' (President) ANNA MARCHESE GABRIELLA PIATTI CLAUDIA CANTONI (President and Coordinator of Integrated Course) LESSONS Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION For the modules carried on in the first semester (Applied Biology, Molecular Biology, Medical Genetics), the exam is an oral one. The oral examination consists of a 20-30 minutes interview in the presence of the course teachers. The student, in the presence of the committee, should demonstrate the ability to critically discuss all the subjects covered in the questions. Through the discussion of different topics, including basic genetic exercises and pedigrees interpretation, the committee verifies the fulfillment of the expected learning outcomes. The mark 30/30 with honors will be assigned when the knowledge of the subject is excellent. For the modules carried on in the second semester (Pathology and Microbiology), the exam is an oral one. Students are allowed to undergo the oral examination only if they have passed the test concerning the modules of the first semester with at least 18/30 (this mark is valid for 18 months). The oral examination consists of a 30 minutes interview in the presence of the course teachers. The student, in the presence of the committee, should demonstrate the ability to critically discuss all the subjects covered in the questions. Through the discussion of different topics, the committee verifies the fulfillment of the expected earning outcomes. At the end of the oral examination, teachers elaborate a mark deriving from the weighted mean of the partial/preliminary marks and from an overall judgment/evaluation of the student. The mark 30/30 with honors will be assigned when the knowledge of the subject is excellent. At the end of the course, in the first week of June, approximately, a pre-exam for the Microbiology Module will be scheduled (for detailed information refer to Microbiology and Pathology modules). ASSESSMENT METHODS Verification of learning is carried out through the oral exam, aimed at verifying the real acquisition by the student of the expected learning outcomes. In order to pass the exam the student will have to demonstrate a good knowledge of the etiological basis and the pathogenic mechanisms of diseases I humans and the ability to analyze their main cellular and molecular aspects; The following items will contribute to the final mark: - ability to critically discuss the requested topics; - accuracy, clarity, synthesis and fluency; - competence in the subject; - speaking ability and correct use of terminology. Exam schedule Data appello Orario Luogo Degree type Note Subject 09/01/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 04/02/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 20/02/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 17/04/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 18/06/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 08/07/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 23/07/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 18/09/2025 08:30 GENOVA Orale BIOLOGIA APPLICATA (GENETICA GENERALE) 09/01/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 04/02/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 20/02/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 17/04/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 18/06/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 08/07/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 23/07/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 18/09/2025 08:30 GENOVA Orale BIOLOGIA MOLECOLARE 09/01/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 04/02/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 20/02/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 17/04/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 18/06/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 08/07/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 23/07/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 18/09/2025 08:30 GENOVA Orale GENETICA MEDICA (GENETICA UMANA) 09/01/2025 08:30 GENOVA Orale MICROBIOLOGIA 04/02/2025 08:30 GENOVA Orale MICROBIOLOGIA 20/02/2025 08:30 GENOVA Orale MICROBIOLOGIA 17/04/2025 08:30 GENOVA Orale MICROBIOLOGIA 18/06/2025 08:30 GENOVA Orale MICROBIOLOGIA 08/07/2025 08:30 GENOVA Orale MICROBIOLOGIA 23/07/2025 08:30 GENOVA Orale MICROBIOLOGIA 18/09/2025 08:30 GENOVA Orale MICROBIOLOGIA 09/01/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 04/02/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 20/02/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 17/04/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 18/06/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 08/07/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 23/07/2025 08:30 GENOVA Orale PATOLOGIA GENERALE 18/09/2025 08:30 GENOVA Orale PATOLOGIA GENERALE