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MEDICAL GENETICS

CODE 67555
ACADEMIC YEAR 2017/2018
CREDITS 1 credit during the 5th year of 8745 MEDICINE AND SURGERY (LM-41) GENOVA
SCIENTIFIC DISCIPLINARY SECTOR MED/03
LANGUAGE Italian
TEACHING LOCATION GENOVA (MEDICINE AND SURGERY)
SEMESTER 2° Semester
MODULES This unit is a module of:

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

Exam Board

CARLO BELLINI

MARIA MARGHERITA MANCARDI

PASQUALE STRIANO

MARIA CRISTINA SCHIAFFINO

ANGELO RAVELLI

LUCA ANTONIO RAMENGHI

ALDAMARIA PULITI

GUIDO MORCALDI

LAURA MINICUCCI

CARLO MINETTI

GIROLAMO MATTIOLI

GIUSEPPE MARTUCCIELLO

CLARA MALATTIA

RENATA BOCCIARDI

ROBERTO GASTALDI

CHIARA FIORILLO

NATASCIA DI IORGI

ELISA DE GRANDIS

GIUSEPPE D'ANNUNZIO

ALESSANDRO CONSOLARO

ISABELLA CECCHERINI

Rosaria Casciaro

CLAUDIO BRUNO

MICHELE TORRE

MOHAMAD MAGHNIE (President and Coordinator of Integrated Course)

LESSONS

TEACHING METHODS

See integrated course of Pediatrics

LESSONS START

see integrated cours of pediatrics

Class schedule

All class schedules are posted on the EasyAcademy portal.

EXAMS

Exam schedule

Date Time Location Type Notes
11/01/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
25/01/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
08/02/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
22/02/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
14/06/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
28/06/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
12/07/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
26/07/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
13/09/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE
25/09/2018 09:00 GENOVA Orale ORARIO E AULE VERRANNO COMUNICATI SUCCESSIVAMENTE