03553 - Medical Genetics (A-K)

Course Unit Page

Academic Year 2018/2019

Learning outcomes

The course has the aim of illustrating both consolidated and novel knowledge in the field of Medical Genetics, also highlighting the transversal implications to all the medical areas. The course will enable the students:

  • to draw pedigrees and to understand the inheritance pattern of genetic diseases
  • to calculate the risk of recurrence of mendelian diseases
  • to know atypical inheritance patterns
  • to understand the principles underlying the genesis of multifactorial diseases
  • to know how genetic testing is performed
  • to be aware of the genetic predisposition to cancer
  • to understand principles of clinical genetics and genetic counselling

Course contents


Readings/Bibliography

E.S. Tobias, M. Connor, M. Ferguson-Smith: Fondamenti di Genetica Medica. Ed. Pearson, 2014

Teaching methods


Assessment methods


Teaching tools

Powerpoint slides available to the students

Online teaching modules in English: https://www.primarycaregenetics.org/?page_id=109&lang=en

Online teaching modules in Italian: https://www.primarycaregenetics.org/?page_id=900&lang=it

Office hours

See the website of Daniela Turchetti