- Docente: Daniela Turchetti
- Credits: 1
- SSD: MED/03
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Nursing (for certified professional nurses) (cod. 0167)
Learning outcomes
Basics of biology and heredity will be recalled, then students will
learn: to trace family pedigrees, to analize the segregation of a
genetic disease, to calculate recurrence risks. Knowledge of the
exceptions to mendelian transmission, as well as of complex genetic
diseases, will be achieved. Methods to diagnose genetic disorders
and the ways to deliver genetic counselling will be taught.
Finally, the topic of genetic cancer susceptibility will be
explored.
Course contents
MEDICAL GENETICS: Classification of inherited diseases: monogenic and complex disorders. Collecting and interpreting family trees: calculating the risk of recurrence of a genetic disease. Features complicating the interpretation of pedigrees: variable expressivity, incomplete penetrance, genetic heterogeneity, late-onset diseases, anticipation, germinal mosaicism. CLINICAL CYTOGENETICS: chromosomal abnormalities and related clinical phenotypes. GENETIC DIAGNOSIS: Molecular diagnosis. Karyotype analysis. Prenatal genetic diagnosis. CLINICAL GENETICS: Definition of Genetic Counselling, types of genetic counselling. CANCER GENETICS: Oncogenes and Tumor Suppressor Genes - Cancer genetic susceptibility
Readings/Bibliography
Novelli G., Giardina E.:”Genetica medica pratica”. Aracne Editrice
Teaching methods
Powerpoint presentations. Interactive exercises.
Assessment methods
At the beginning of most lessons, exercises will be proposed to the students in order to verify the acquisition of the previous lesson topics and to show unclear points to be explained during the lesson. Final written and oral test.
Teaching tools
Students will be provided with the slides presented during the classes in electronic or paper format
Office hours
See the website of Daniela Turchetti