03553 - Medical Genetics

Course Unit Page

Academic Year 2018/2019

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

The course consists of 1 CFU of 12 hours of lectures with Powerpoint presentations.

Assessment methods

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

- oral exam in which the student answers open-ended questions on topics presented during lectures, icluding interpretation of a family pedigree,

or

- oral presentation using Powerpoint on the subject of an inherited disease of the oral cavity.

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

Teaching tools

Power Point lectures will be available on Insegnamenti online.

Office hours

See the website of Kerry Jane Rhoden