Course Unit Page
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Teacher Giuseppe Gasparre
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Credits 1
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SSD MED/03
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Teaching Mode Traditional lectures
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Language Italian
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Campus of Ravenna
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Degree Programme First cycle degree programme (L) in Speech and Language Therapy (cod. 9080)
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Course Timetable from Nov 08, 2021 to Nov 11, 2021
SDGs
This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.
Academic Year 2021/2022
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
Alumni