CODE 72088 ACADEMIC YEAR 2022/2023 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 2021/2022) BIOCHEMISTRY 58030 2021 Propedeuticità in uscita Questo insegnamento è propedeutico per gli insegnamenti: MEDICINE AND SURGERY 8745 (coorte 2021/2022) DERMATOLOGY, CLINICAL IMMUNOLOGY AND RHEUMATOLOGY 67377 MEDICINE AND SURGERY 8745 (coorte 2021/2022) CARDIOLOGY AND PNEUMOLOGY 67384 MEDICINE AND SURGERY 8745 (coorte 2021/2022) PHARMACOLOGY I 67371 MEDICINE AND SURGERY 8745 (coorte 2021/2022) PHARMACOLOGY 80794 MEDICINE AND SURGERY 8745 (coorte 2021/2022) GU TRACT AND ENDOCRINE DISEASES 67391 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. 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. 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. Address 1: Laboratorio di Immunologia CBA/ Pad 90, Largo Rosanna Benzi, 10, IRCCS Ospedale Policlinico San Martino Address 2: Sezione di Patologia Generale - DIMES, Via L. Alberti, 2 MARIA ADELAIDE PRONZATO Ricevimento: Students can contact the teachers by mail (maidep@unige.it) for interviews The teacher's studio is located in the Pathology Section of Experimental Medicine Department (DIMES) , via L.B. Alberti, 2 16132 Genova 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) PAOLA GHIORZO (President) MARIA CRISTINA MINGARI (President) GABRIELLA PIETRA (President) ALDAMARIA PULITI (President) SONIA SCARFI' (President) ANNA MARCHESE LORENZA PASTORINO GABRIELLA PIATTI MARIA ADELAIDE PRONZATO CLAUDIA CANTONI (President and Coordinator of Integrated Course) 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. If necessary, the exams could be carried out remotely in online mode using the Teams platform. 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 10/01/2023 09:00 GENOVA Orale 12/01/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 06/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 28/02/2023 09:00 GENOVA Orale 06/04/2023 09:00 GENOVA Orale 07/06/2023 09:00 GENOVA Orale 15/06/2023 09:00 GENOVA Orale 03/07/2023 09:00 GENOVA Orale 05/07/2023 09:00 GENOVA Orale 19/07/2023 09:00 GENOVA Orale 24/07/2023 09:00 GENOVA Orale 14/09/2023 09:00 GENOVA Orale 18/09/2023 09:00 GENOVA Orale 13/12/2023 08:30 GENOVA Orale 20/12/2023 14:00 GENOVA Orale 10/01/2023 09:00 GENOVA Orale 12/01/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 06/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 28/02/2023 09:00 GENOVA Orale 06/04/2023 09:00 GENOVA Orale 07/06/2023 09:00 GENOVA Orale 15/06/2023 09:00 GENOVA Orale 03/07/2023 09:00 GENOVA Orale 05/07/2023 09:00 GENOVA Orale 19/07/2023 09:00 GENOVA Orale 24/07/2023 09:00 GENOVA Orale 14/09/2023 09:00 GENOVA Orale 18/09/2023 09:00 GENOVA Orale 13/12/2023 08:30 GENOVA Orale 10/01/2023 09:00 GENOVA Orale 12/01/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 06/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 28/02/2023 09:00 GENOVA Orale 06/04/2023 09:00 GENOVA Orale 07/06/2023 09:00 GENOVA Orale 15/06/2023 09:00 GENOVA Orale 03/07/2023 09:00 GENOVA Orale 05/07/2023 09:00 GENOVA Orale 19/07/2023 09:00 GENOVA Orale 24/07/2023 09:00 GENOVA Orale 14/09/2023 09:00 GENOVA Orale 18/09/2023 09:00 GENOVA Orale 13/12/2023 08:30 GENOVA Orale 10/01/2023 09:00 GENOVA Orale 12/01/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 06/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 28/02/2023 09:00 GENOVA Orale 06/04/2023 09:00 GENOVA Orale 07/06/2023 09:00 GENOVA Orale 15/06/2023 09:00 GENOVA Orale 03/07/2023 09:00 GENOVA Orale 05/07/2023 09:00 GENOVA Orale 19/07/2023 09:00 GENOVA Orale 24/07/2023 09:00 GENOVA Orale 14/09/2023 09:00 GENOVA Orale 18/09/2023 09:00 GENOVA Orale 13/12/2023 08:30 GENOVA Orale 10/01/2023 09:00 GENOVA Orale 12/01/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 01/02/2023 09:00 GENOVA Orale 06/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 20/02/2023 09:00 GENOVA Orale 28/02/2023 09:00 GENOVA Orale 06/04/2023 09:00 GENOVA Orale 07/06/2023 09:00 GENOVA Orale 15/06/2023 09:00 GENOVA Orale 03/07/2023 09:00 GENOVA Orale 05/07/2023 09:00 GENOVA Orale 19/07/2023 09:00 GENOVA Orale 24/07/2023 09:00 GENOVA Orale 14/09/2023 09:00 GENOVA Orale 18/09/2023 09:00 GENOVA Orale 13/12/2023 08:30 GENOVA Orale
