03553 - Medical Genetics

Academic Year 2017/2018

  • Teaching Mode: Traditional lectures
  • Campus: Bologna
  • Corso: First cycle degree programme (L) in Dental Hygiene (cod. 8481)

Learning outcomes

At the end of the course the student will have an understanding of the main concepts of the most common genetic diseases with particular focus on those that affect the oral cavity and influence oral hygene either directly or indirectly. The student will acquire the competence to interpret family pedigrees, analyse the segregation of a genetic disease, and have a basic understanding of the exceptions to mendelian inheritance, complex genetic diseases, and the methods to diagnose a genetic disease.

Course contents

  • Genetic diseases: types of genetic diseases, elements of genetic counselling and molecular diagnostics, family pedigrees.
  • Mendelian inheritance: modes of transmission, risk of recurrence, examples of diseases with autosomal dominant, autosomal recessive and X-linked inheritance; variations on mendelian inheritance (incomplete penetrance, variable expressivity, genetic heterogeneity, anticipation, germinal mosaicism)
  • Mitochondrial inheritance: mitochondrial DNA, inheritance pattern, disease examples.
  • Complex inheritance: genetic susceptibility to disease, gene-environment interactions, polymorphisms.
  • Chromosomal abnormalities and cytogenetics

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

Power Point lectures.

Assessment methods

Oral exam on the programme content.

Teaching tools

Power Point lectures will be available on AMS Campus.

Office hours

See the website of Kerry Jane Rhoden