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78940 - Medical Genetics

Academic Year 2021/2022

                
                        Docente:
                        Giuseppe Gasparre
                    
                        Credits:
                        1
                    
                        SSD:
                        MED/03
                    
                        Language:
                        Italian
                    
                        Teaching Mode:
                        Traditional lectures
                        
                            Campus:
                            Ravenna
                        
                            Corso:
                            First cycle degree programme (L) in
                            Speech and Language Therapy (cod. 9080)

                            Teaching resources on Virtuale

Learning outcomes

The student will acquire the principles of heredity, will become confident in sketching and interpreting family trees in which genetic diseases recur, will become able to understand mechanisms involved in the etiology of genetic diseases or with a genetic basis, and identify situations that complicate Mendelian heredity.

Course contents

MENDELIAN GENETICS: Definition of Mendelian hereditable diseases. Autosomal and X-linked, dominant and recessive diseases. Definition, construction and analyses of pedigrees: evaluation of the recurrence risk for a genetic disease with class exercises. Problems inherent to pedigrees interpretation: variable expressivity, incomplete penetrance, late onset disease, genetic anticipation, germline mosaicism. Clinical examples of Mendelian diseases with explanation of molecular causes.

NON MENDELIAN GENETICS: Mitochondrial diseases. Polygenic (multifatorial) diseases and evaluation of empirical risk. Epidemiological studies and susceptibility curves. Genetic polymorphisms and liability.

CHROMOSOMAL PATHOLOGY: Chromosomal structural and numerical aberrations and clinical examples. Gametogenesis of balanced translocation carriers. Karyotype for the diagnosis of chromosomal aberrations.

Readings/Bibliography

Campbell e Reece: Biologia e Genetica, ed Pearson 2012 (capitolo 18)
Tobias, Connor, Ferguson-Smith: Fondamenti di Genetica Medica. Ed. Pearson.

Teaching methods

Lectures with PowerPoint presentations and classroom exercises.

Assessment methods

Written test.

The test structure will vary according to whether the exam modality will be in presence or remotely.

The examination (in presence) consists of an exercise for the assessment of disease risk in a pedigree (16 points maximum) and two open questions on theoretical aspects (7 points maximum each).

Use of calculator is neither necessary nor permitted.

The examination (remotely) consists of 22 or 23 multiple choice questions with no penalty given for wrong answers, including short risk assessment exercises.

The choice of mode of examination, in presence vs. remotely, will be made close to the examination date according to the pandemics situation and to the Rector's dispositions, and will be promptly communicated to the students.

Teaching tools

Students will be provided with all presentations projected during the course, in electronic format through IOL.

Office hours

See the website of Giuseppe Gasparre

SDGs

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.