MEDICAL GENETICS

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

General Module

Course Sheet

Course code:

4013C

Academic Year of enrolment:

2020

Year of supply:

2020/2021

Type of Course:

Characterising

Degree:

Course of Single Cycle Degree 6 years in MEDICINE AND SURGERY

Disciplinary Sector:

Medical Genetics

Is part of:

BIOLOGY AND GENETICS

Location:

CHIETI

Credits:

Programme Year:

Professor and Collaborators:

STUPPIA Liborio

Cycle:

Second semester

Obligatory attendance:

Yes

Hours of classroom activity:

Individual study hours:

Prerequisites:

None

Objectives

The aim of the course is to improve the knowledge of the students about the molecular basis of the most important genetic diseases with mendelian and non mendelian inheritance, and the pathogenic role played by the mutations associated to these conditions. Moreover, the concept of epigenetic with specific regard to the genomic imprinting diseases will be exposed. Finally, the topic of genetic screening of the population will be discussed.

Contents

Molecular basis of mendelian and non mendelian diseases and tools for their analysis. epigenetic and genomic imprinting. Population based genetic screening .

Extended Syllabus

- Human genome and genetica variation.
- Patterns of inheritance of mendelian and non mendelian diseases: trinucleotide repeats disorders, multifactorial inheritance. malattie da espansione di triplette, eredità multifattoriale.
- Tools for the study of genetic mutations: PCR, DNA sequencing, MLPA, NGS.
- epigenetics eand genomic imprinting diseases.
- Population screening: newborn screening, carrier screening.
- Treatment of genetic disorders.

Recommended Bibliography

Korf and Irons "Human Genetics and Genomics" Edi Ermes Ed.

Teaching Methods

Frontal lectures

Evaluation methods

Verification of learning:

Oral examination

Contacts/More Information

None

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

Aree