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

CLAUDIO BRUNO

ANDREA CALANDRINO

Rosaria Casciaro

ALESSANDRO CONSOLARO

GIUSEPPE D'ANNUNZIO

ELISA DE GRANDIS

NATASCIA DI IORGI

CHIARA FIORILLO

ROBERTO GASTALDI

MARCO GATTORNO

MOHAMAD MAGHNIE

MARIA MARGHERITA MANCARDI

GIROLAMO MATTIOLI

LINO NOBILI

GIUSEPPA PATTI

ALDAMARIA PULITI

LUCA ANTONIO RAMENGHI

ANGELO RAVELLI

MARIA CRISTINA SCHIAFFINO

MICHELE TORRE

STEFANO VOLPI

CLARA MALATTIA (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