39182 - Laboratory Techniques

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, PKU, hemocromatosis) 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.

Readings/Bibliography

Fondamenti di Genetica Medica. Tobias, Connor & Ferguson-Smith. Edizione italiana a cura di Turchetti, Magini e Seri. Pearson, 2014.

Elementi di Genetica Medica. Maurizio Clementi. EdiSES, 2016.

Teaching methods

Lectures with Powerpoint presentations.

Assessment methods

Learning will be assessed through an oral exam held at the end of the course. Students can choose one of two formats:

1) Oral exam consisting of a medical genetics exercise (pedigree interpretation, assessment of recurrence risk, Hardy-Weinberg calculation), and an open-ended question on a topic covered during class.

2) Discussion of a hereditary disease of dietary/nutritional interest not covered in class, accompanied by a powerpoint presentation on the topic prepared in advance by the student (15 min max).

The exam of Medical Genetics contributes to the final assessment of the integrated course LABORATORIO DI DIETISTICA (C.I.), expressed as a single grade out of 30.

Teaching tools

Teaching/learning material (lecture pdf)available online through Virtuale.

Office hours

See the website of Kerry Jane Rhoden