- Docente: Kerry Jane Rhoden
- Credits: 2
- SSD: MED/03
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Midwifery (cod. 8471)
Learning outcomes
At the end of the teaching module students will understand and be
able to interpret family trees, the risk of recurrence and mode of
transmission of hereditary diseases, and basic aspects of genetic
counselling.
Course contents
Hereditary diseases: family trees, mendelian inheritance,
recurrence risk, Hardy-Weinberg principle.
Mendelian disorders: autosomal dominant (achondroplasia,
Huntington's chorea, osteogenesis imperfecta, Marfan syndrome),
autosomal recessive (cystic fibrosis, phenylketonuria,
galactosemia), X-linked (Duchenne's muscular dystrophy).
Exceptions and variations on mendelian inheritance: incomplete
penetrance, variable expressivity, genetic heterogeneity,
anticipation, germinal mosaicism, mitochondrial inheritance.
Complex diseases, genetic susceptibility to disease,
gene-environment interactions, polymorphisms, familial aggregation,
twin and adoption studies, association studies.
Hereditary cancer (retinoblastoma, breast and ovarian
cancer).
Chromosomal abnormalities and cytogenetics: aneuploidy, structural
rearrangements, chromosome banding, FISH.
Clinical genetics: genetic counselling, molecular
diagnostics.
Readings/Bibliography
Genetica Medica Pratica. Giuseppe Novelli e Emiliano Giardina. Aracne, 2003.
Genetica in Medicina. Thompson & Thompson. Edizione italiana a cura di Achile Iolascon e Paolo Gaparini, Edilson & Gnocchi, 2005.
Teaching methods
Lectures with Power Point presentations.
Assessment methods
Oral exam on the contents of the course.
Teaching tools
Powerpont presentations of all lectures will be made available to
students.
Office hours
See the website of Kerry Jane Rhoden