MEDICAL GENETICS

MEDICAL GENETICS

_
iten
Code
67555
ACADEMIC YEAR
2019/2020
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: Please directly contact Teacher by phone +010-56362797 or email bocciardi@unige.it

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

Exam Board

PASQUALE STRIANO (President)

LINO NOBILI

ALDAMARIA PULITI

CARLO MINETTI

LUCA ANTONIO RAMENGHI

GIROLAMO MATTIOLI

GIUSEPPE MARTUCCIELLO

ANGELO RAVELLI

STEFANO VOLPI

MICHELE TORRE

MARIA CRISTINA SCHIAFFINO

VINCENZO SALPIETRO DAMIANO

MARIA MARGHERITA MANCARDI

CLARA MALATTIA

ISABELLA CECCHERINI

ALESSANDRO CONSOLARO

Rosaria Casciaro

CLAUDIO BRUNO

RENATA BOCCIARDI

GIUSEPPE D'ANNUNZIO

ELISA DE GRANDIS

ROBERTO GASTALDI

CARLO BELLINI

CHIARA FIORILLO

NATASCIA DI IORGI

MOHAMAD MAGHNIE

LESSONS

Teaching methods

See integrated course of Pediatrics

LESSONS START

see integrated cours of pediatrics

EXAMS

Exam schedule

Date Time Location Type Notes
17/09/2020 09:30 GENOVA Orale