39182 - Laboratory Techniques

Learning outcomes

At the end of the course the student will have acquired an understanding of some aspects of professional activities.

Course contents

Module 1

Module 1 covers the main topics of Medical Genetics relevant for dietitians. It 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

Module 1 Textbooks are not required, but the following is recommended for further information on the subject:

Elementi di Genetica Medica. Maurizio Clementi. EdiSES, 2020.

Teaching methods

Traditional lectures.

Assessment methods

Learning will be assesed at the end of the course through a written test consisting of multiple choice questions and open questions designed to assess the student's competence in all modules of the integrated course.

The test will be held in person in a computer facility using the online platform eol.unibo.it; students must be in possession of their university credentials in order to access the test.

The test is composed of 14 multiple choice questions (1 point each) and 9 open questions (2 points each) evaluated as follows:

Basic knowledge of some topics, 1 point

Complete knowledge, ability to reason, correct use of subject-specific  terminology, 2 points

Each wrong answer or no answer, 0 points.

The pass mark is 18/30, correspoding to 18 points. The final mark is equivalent to the number of points achieved from 18 to 32; a mark greater than 30 points corresponds to 30L.

Teaching tools

Module 1: Teaching material (lecture pdf files) will be available online through Virtuale.

Office hours

See the website of Kerry Jane Rhoden

See the website of Federica Dall'Aglio