CODE 67555 ACADEMIC YEAR 2020/2021 CREDITS 1 cfu anno 5 MEDICINA E CHIRURGIA 8745 (LM-41) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR MED/03 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER 2° Semester MODULES Questo insegnamento è un modulo di: PEDIATRICS TEACHING MATERIALS AULAWEB OVERVIEW See integrated course of Pediatrics AIMS AND CONTENT LEARNING OUTCOMES See integrated course of Pediatrics AIMS AND LEARNING OUTCOMES Students are provided with knowledge about responsible genes and mechanisms of disease of monogenic hereditary diseases, including extensions due to genetic and allelic heterogeneity, penetrance and variable expression. New diagnostic tools: CGH-Array and New Generation Sequencing. Theoretical basis of complex hereditary diseases and the tools used to search genetic factors of susceptibility are discussed. TEACHING METHODS See integrated course of Pediatrics SYLLABUS/CONTENT Recognize and classify the major congenital malformations, malformative syndromes and chromosomal illnesses Identify environmental, external or intrauterine factors that may contribute to the handling of unfavorable hereditary characters and / or malformations Traditional and molecular chromosome study Approach to diseases with heterogeneous genetic etiology Esome analysis RECOMMENDED READING/BIBLIOGRAPHY See integrated course of pediatrics TEACHERS AND EXAM BOARD ALDAMARIA PULITI Ricevimento: make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova FEDERICO ZARA Ricevimento: For appointment please write to: federico.zara@unige.it Exam Board PASQUALE STRIANO (President) CARLO BELLINI RENATA BOCCIARDI CLAUDIO BRUNO Rosaria Casciaro ALESSANDRO CONSOLARO GIUSEPPE D'ANNUNZIO ELISA DE GRANDIS NATASCIA DI IORGI CHIARA FIORILLO ROBERTO GASTALDI CLARA MALATTIA MARIA MARGHERITA MANCARDI GIUSEPPE MARTUCCIELLO GIROLAMO MATTIOLI CARLO MINETTI LINO NOBILI GIUSEPPA PATTI ALDAMARIA PULITI LUCA ANTONIO RAMENGHI ANGELO RAVELLI VINCENZO SALPIETRO DAMIANO MARIA CRISTINA SCHIAFFINO MICHELE TORRE STEFANO VOLPI MOHAMAD MAGHNIE (President and Coordinator of Integrated Course) LESSONS LESSONS START see integrated cours of pediatrics Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS Exam schedule Data appello Orario Luogo Degree type Note 07/01/2021 10:00 GENOVA Orale 21/01/2021 10:00 GENOVA Orale 25/02/2021 10:00 GENOVA Orale 27/05/2021 10:00 GENOVA Orale 03/06/2021 10:00 GENOVA Orale 04/06/2021 10:00 GENOVA Orale 17/06/2021 10:00 GENOVA Orale 01/07/2021 10:00 GENOVA Orale 15/07/2021 10:00 GENOVA Orale 16/09/2021 10:00 GENOVA Orale 18/11/2021 10:00 GENOVA Orale
