03553 - Medical Genetics

Course Unit Page

Academic Year 2018/2019

Learning outcomes

The course provides a fundamental understanding of the genetic basis of inherited diseases, their modes of transmission, and their diagnosis.

At the end of the course the student will be able to:

  • distinguish the main classes of genetic diseases
  • recognize the modes of transmission of hereditary diseases and the variations of Mendelian inheritance
  • reconstruct family pedigrees and calculate the risk of recurrence of a monogenic disease
  • describe the main biological mechanisms that cause hereditary diseases
  • describe the laboratory techniques used to diagnose hereditary diseases

Course contents

  • 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.


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 2 CFU for a total of 24 hours of lectures with Powerpoint presentations.

Assessment methods

Student learning will be assessed through an oral exam held at the end of the course, in which the student answers open-ended questions on topics presented during lectures.

 The exam of Medical Genetics contributes to the final assessment of the integrated course BIOLOGIA, BIOCHIMICA E GENETICA (C.I.) expressed as a single grade out of 30.

Teaching tools

Lectures in pdf format will be available online at Insegnamenti OnLine.

Office hours

See the website of Kerry Jane Rhoden