- Docente: Kerry Jane Rhoden
- Credits: 2
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Dietistic (cod. 8470)
Learning outcomes
By the end of the course the student will have acquired some
aspects of professional training.
Course contents
The course provides a fundamental understanding of hereditary diseases in man, the underlying genetic mechanisms, the mode of transmission and the diagnostic approach to these diseases.
Programme:
- Genetic diseases: classes of genetic diseases, basic concepts of genetic counselling, construction of family pedigrees.
- Molecular diagnostic techniques
- Mendelian inheritance: modes of transmission, risk of recurrence, Hardy-Weinberg principle.
- Diseases with autosomal dominant inheritance (achondroplasia, Huntington disease, osteogenesis imperfecta, Marfan Syndrome), autosomal recessive inheritance (cystic fibrosis, galactosemia, PKU) and X-linked recessive inheritance (Duchenne's muscular dystrophy).
- Variations of mendelian inheritance: incomplete penetrance, variable expressivity, genetic heterogeneity, anticipation, germinal mosaicism
- Mitochondrial inheritance: mitochondrial DNA, inheritance pattern, disease examples
- Multifactorial inheritance: polimorphisms, susceptibility genes, gene-environment interaction, familial aggregation, twin studies, association studies.
- Chromosomal abnormalities and cytogenetics.
- Inherited cancer.
- Introduction to nutrigenetics and nutrigenomics.
Teaching methods
Power Point lectures.
Assessment methods
Oral exam on the program contents.
Teaching tools
Lectures in pdf format will be available on AMS Campus.
Office hours
See the website of Kerry Jane Rhoden