CODE 72088 ACADEMIC YEAR 2021/2022 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 2020/2021) BIOCHEMISTRY 58030 2020 Propedeuticità in uscita Questo insegnamento è propedeutico per gli insegnamenti: MEDICINE AND SURGERY 8745 (coorte 2020/2021) DERMATOLOGY, CLINICAL IMMUNOLOGY AND RHEUMATOLOGY 67377 MEDICINE AND SURGERY 8745 (coorte 2020/2021) CARDIOLOGY AND PNEUMOLOGY 67384 MEDICINE AND SURGERY 8745 (coorte 2020/2021) PHARMACOLOGY I 67371 MEDICINE AND SURGERY 8745 (coorte 2020/2021) PHARMACOLOGY 80794 MEDICINE AND SURGERY 8745 (coorte 2020/2021) 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: By appointment. Please contact the Lecturer by e-mail (william.bruno@unige.it). 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 35338227. Scarfì's office it's located in Via A. Pastore 3, first floor ( in front of Mente locale Bar, fire escape). MARIA CRISTINA MINGARI Ricevimento: By appointment by email: mariacristina.mingari@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. 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: By appointment by email: gabriella.pietra@unige.it 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 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, the exam consists of a written test. The total amount of time allowed for the examination is 90 minutes. The examination for the integrated course is made up of a single written exam for the 3 sub-sections, with multiple-choice questions which may include, for the general and human genetics sections, open-ended questions. The chance to carry out a supplementary oral examination is available both to students whose final average mark is between 16 and 17/30 (14/30 at least for each module) and to those who wish to increase the mark (above 18/30) they obtained in the written examination The final mark of the written exam derives from the average of marks obtained in the single sections. Correction of the written tests and the supplementary oral examination require at least one week. The exam could be carried out remotely in online mode using the Teams platform, and in this case it will be an oral one. For the modules carried on in the second semester, 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 learning outcomes. Also in this case, the exam could be carried out remotely in online mode using the Teams platform. 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. 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 10/01/2022 09:00 GENOVA Orale 12/01/2022 09:00 GENOVA Scritto 01/02/2022 09:00 GENOVA Orale 04/02/2022 09:00 GENOVA Scritto 16/02/2022 09:00 GENOVA Orale 28/02/2022 09:00 GENOVA Scritto 14/04/2022 09:00 GENOVA Orale 15/06/2022 09:00 GENOVA Orale 16/06/2022 09:00 GENOVA Scritto 01/07/2022 09:00 GENOVA Scritto 05/07/2022 09:00 GENOVA Orale 19/07/2022 09:00 GENOVA Scritto 21/07/2022 09:00 GENOVA Orale 12/09/2022 09:00 GENOVA Scritto 19/09/2022 09:00 GENOVA Orale 24/11/2022 14:00 GENOVA Orale 10/01/2022 09:00 GENOVA Orale 12/01/2022 09:00 GENOVA Scritto 01/02/2022 09:00 GENOVA Orale 04/02/2022 09:00 GENOVA Scritto 16/02/2022 09:00 GENOVA Orale 28/02/2022 09:00 GENOVA Scritto 14/04/2022 09:00 GENOVA Orale 15/06/2022 09:00 GENOVA Orale 16/06/2022 09:00 GENOVA Scritto 01/07/2022 09:00 GENOVA Scritto 05/07/2022 09:00 GENOVA Orale 19/07/2022 09:00 GENOVA Scritto 21/07/2022 09:00 GENOVA Orale 12/09/2022 09:00 GENOVA Scritto 19/09/2022 09:00 GENOVA Orale 24/11/2022 14:00 GENOVA Orale 10/01/2022 09:00 GENOVA Orale 12/01/2022 09:00 GENOVA Scritto 01/02/2022 09:00 GENOVA Orale 04/02/2022 09:00 GENOVA Scritto 16/02/2022 09:00 GENOVA Orale 28/02/2022 09:00 GENOVA Scritto 14/04/2022 09:00 GENOVA Orale 15/06/2022 09:00 GENOVA Orale 16/06/2022 09:00 GENOVA Scritto 01/07/2022 09:00 GENOVA Scritto 05/07/2022 09:00 GENOVA Orale 19/07/2022 09:00 GENOVA Scritto 21/07/2022 09:00 GENOVA Orale 12/09/2022 09:00 GENOVA Scritto 19/09/2022 09:00 GENOVA Orale 24/11/2022 14:00 GENOVA Orale 10/01/2022 09:00 GENOVA Orale 12/01/2022 09:00 GENOVA Scritto 01/02/2022 09:00 GENOVA Orale 04/02/2022 09:00 GENOVA Scritto 16/02/2022 09:00 GENOVA Orale 28/02/2022 09:00 GENOVA Scritto 14/04/2022 09:00 GENOVA Orale 15/06/2022 09:00 GENOVA Orale 16/06/2022 09:00 GENOVA Scritto 01/07/2022 09:00 GENOVA Scritto 05/07/2022 09:00 GENOVA Orale 19/07/2022 09:00 GENOVA Scritto 21/07/2022 09:00 GENOVA Orale 12/09/2022 09:00 GENOVA Scritto 19/09/2022 09:00 GENOVA Orale 24/11/2022 14:00 GENOVA Orale 10/01/2022 09:00 GENOVA Orale 12/01/2022 09:00 GENOVA Scritto 01/02/2022 09:00 GENOVA Orale 04/02/2022 09:00 GENOVA Scritto 16/02/2022 09:00 GENOVA Orale 28/02/2022 09:00 GENOVA Scritto 14/04/2022 09:00 GENOVA Orale 15/06/2022 09:00 GENOVA Orale 16/06/2022 09:00 GENOVA Scritto 01/07/2022 09:00 GENOVA Scritto 05/07/2022 09:00 GENOVA Orale 19/07/2022 09:00 GENOVA Scritto 21/07/2022 09:00 GENOVA Orale 12/09/2022 09:00 GENOVA Scritto 19/09/2022 09:00 GENOVA Orale 24/11/2022 14:00 GENOVA Orale