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

PASQUALE STRIANO (President)

CARLO BELLINI

RENATA BOCCIARDI

CLAUDIO BRUNO

Rosaria Casciaro

ISABELLA CECCHERINI

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

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