OVERVIEW

This Course is aimed at providing knowledge and competences on the genetic bases and molecular mechanisms underlying the development of hereditary diseases in humans. Methodological aspects with diagnostic and research purposes related to the identification of disease genes and variants/mutations will be also discussed.

AIMS AND CONTENT

PREREQUISITES

Knowledge of the main topics of Genetics and Biology.

TEACHING METHODS

Taught classes. Frequency is recommended.

Please refer to AulaWeb for any communication regarding possible changes related to COVID pandemia.

SYLLABUS/CONTENT

The study of human chromosomes: stucture, function, common anomalies. Conventional and molecular cytogenetics.

Pattern of inheritance of mendelian characters and diseases in humans.

Extensions of mendelian inheritance.

Overview of population genetics: the Hardy-Weinberg equilibrium, genotypes, phenotypes and gene frequencies.

Complex diseases.

Identifying human disease genes.

Molecular basis of inherited disorders: main classes of mutations, functional consequences. MicroRNA as a cause of genetic disease.

Molecular diagnosis of genetic diseases. Conventional methodologies and new generation approaches: whole-exome analysis (WES); variant classification and Incidental or secondary findings; guidelines for reporting results from WES analysis.

Genetic counseling.

Approaches to the therapy of genetic diseases: an overview and selected examples. Fibrodysplasia Ossificans Progressiva and Cystic fibrosis: from gene identification to targeted therapies.

The medical Genetics online: an overview about the principal sites, databases and in silico tools for medical genetics.

RECOMMENDED READING/BIBLIOGRAPHY

English editions

• T. Strachan, J. Goodship, P. Chinnery, Genetics and Genomics in Medicine, Garland Science, 2015.

Italian editions

• G. Neri, M. Genuardi., Genetica Umana e Medica, quarta edizione, Edra Masson, 2017
• M. Clementi, Elementi di Genetica Medica, seconda edizione, Edises, 2020
• T. Strachan, J. Goodship, P. Chinnery, Genetica & Genomica, Zanichelli, 2016
• T. Strachan, A. P. Read, Genetica molecolare umana, Zanichelli, 2012

TEACHERS AND EXAM BOARD

Exam Board

RENATA BOCCIARDI (President)

SERENA CAPPATO

ALDAMARIA PULITI (President Substitute)

PAOLO SCUDIERI (Substitute)

LESSONS

LESSONS START

First semester. From October. See https://easyacademy.unige.it/portalestudenti/

Class schedule

MEDICAL GENETICS

EXAMS

EXAM DESCRIPTION

Oral examination.

Please refer to AulaWeb for any specific communication regarding possible changes related to COVID pandemia.

ASSESSMENT METHODS

During the oral examination several aspects will be evaluated: knowledge and ability to present and discuss subjects proposed by the teacher; use of a specific vocabulary, resolution of problems.

Exam schedule

FURTHER INFORMATION

Examination board

66686 - Medical genetics

Renata Bocciardi

Serena Cappato

Aldamaria Puliti