OVERVIEW

This Module 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

LEARNING OUTCOMES

The module is aimed at providing the knowledge of the genetic bases and molecular mechanisms underlying the development of inherited diseases, though the study of the inheritance patterns and the analysis of gene and chromosomal anomalies. Main topics are the following: analysis of the inheritance models in mendelian and complex diseases; methods of identification of disease genes and variants. During taught classes methodologies currently applied for the genetic diagnosis of inherited conditions will be discussed together with selected examples of recurrence risk calculation within families and population.

AIMS AND LEARNING OUTCOMES

Lessons attendance and active participation by Students will allow to acquire specific knowledge and competences on the main topics related to Medica Genetics.

- Ability to recognize the main inheritance models in humans by the observation, analysis and discussion of pedigrees and selected examples of human conditions.

- Ability to estimate the recurrence risk of an inherited disease within a family.

- Ability to select and describe the main methodologies to identify the molecular or chromosomal defect responsible for mendelian and complex inherited diseases.

- Critical evaluation of the use of the different types of genetic tests (purposes, indications, communication of results). Importance of the Genetic Counseling.

- Knowledge about the possibility of a therapy for genetic diseases.

- Knowledge about the Medical Genetics resources available online.

- Acquisition of a specific vocabulary.

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: structure, 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.

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.

Examples of genetic diseases and Approaches to the therapy: 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

Slides, research papers and indication of specific WEB sites will be provided to Students to support individual study. Some of this material is in english.

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. For lessons start and timetable please go to the link: https://easyacademy.unige.it/portalestudenti/

Please check the module Aulaweb page for timetable updates dependent on the sanitary and epidemic situation.

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 Lecturer; use of a specific vocabulary, resolution of problems, pedigree analysis, risk calculation within family in the frame of a genetic counseling.

Exam schedule

FURTHER INFORMATION

Examination board

66686 - Medical genetics

Renata Bocciardi

Serena Cappato

Aldamaria Puliti

Paolo Scudieri