MEDICAL GENETICS

MEDICAL GENETICS

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iten
Code
67555
ACADEMIC YEAR
2020/2021
CREDITS
1 credits 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:
Teaching materials

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

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

Ricevimento: For appointment please write to: federico.zara@unige.it

Exam Board

PASQUALE STRIANO (President)

GIUSEPPA PATTI

ALDAMARIA PULITI

LINO NOBILI

LUCA ANTONIO RAMENGHI

CARLO MINETTI

GIROLAMO MATTIOLI

ANGELO RAVELLI

STEFANO VOLPI

MICHELE TORRE

MARIA CRISTINA SCHIAFFINO

VINCENZO SALPIETRO DAMIANO

GIUSEPPE MARTUCCIELLO

MARIA MARGHERITA MANCARDI

ALESSANDRO CONSOLARO

GIUSEPPE D'ANNUNZIO

Rosaria Casciaro

CLAUDIO BRUNO

RENATA BOCCIARDI

ELISA DE GRANDIS

NATASCIA DI IORGI

CLARA MALATTIA

CARLO BELLINI

ROBERTO GASTALDI

CHIARA FIORILLO

MOHAMAD MAGHNIE (President and Coordinator of Integrated Course)

LESSONS

Teaching methods

See integrated course of Pediatrics

LESSONS START

see integrated cours of pediatrics

EXAMS

Exam schedule

Date Time Location Type Notes
27/05/2021 10:00 GENOVA Orale esame riservato agli studenti fuori corso Istituto G. Gaslini - padiglione 16 - sala museo
03/06/2021 10:00 GENOVA Orale Istituto G. Gaslini - Padiglione 16 - aula magna
04/06/2021 10:00 GENOVA Orale Istituto G. Gaslini - padiglione 16 - aula magna
17/06/2021 10:00 GENOVA Orale sala museo - Istituto G. Gaslini - padiglione 16
01/07/2021 10:00 GENOVA Orale sala museo - Istituto G. Gaslini - padiglione 16
15/07/2021 10:00 GENOVA Orale sala museo - Istituto G. Gaslini - padiglione 16
16/09/2021 10:00 GENOVA Orale sala museo - Istituto G. Gaslini - padiglione 16