Medical genetics pathologies

A.Y. 2020/2021
Overall hours
Learning objectives
Aim of this course is the learning of genetic diseases with particular attention on molecular mechanisms, genetic tests and the role of laboratory in the diagnosis.
Expected learning outcomes
The student will be able to know the general characteristics of the molecular mechanisms underlying the human genetic diseases and the genetic tests for the molecular diagnosis.
Course syllabus and organization

Single session

- The program of the course will not be modified
- Teaching resources will not be modified
- Teaching method: on-line teaching on Microsoft Teams platform
- Assessment method: written on-line exam
Course syllabus
The course will illustrate some examples of main human genetic diseases with particular reference to different pathogenetic molecular mechanisms: point mutations (eg Cystic Fibrosis, Sickle Cell Anemia), dynamic mutation (eg Fragile X Syndrome, Huntington disease), somatic mutation (eg chromosomal translocation in ALL (LLA), imprinting mutation (eg Beckwith Wiedemann syndrome), multifactorial (inherited tumours). Cases of genetic testing useful for drug therapy / response will also be indicated.
For each example of described pathology, the main molecular diagnosis techniques able to identifying the mutation will also be indicated.
Prerequisites for admission
Basic knowledge of Genetics
Teaching methods
The course is divided into a series of lectures with slide shows in Power Point.
Teaching Resources
The lectures slides are uploaded to the Ariel website
Genetica in medicina di Thmpson and Thompson
Assessment methods and Criteria
The assessment of learning takes place through an oral test, which verifies the acquisition of the knowledge and skills expected for the courses on some genetic diseases, molecular pathogenic mechanisms and the diagnostic techniques used for the molecular diagnosis.
- University credits: 1
Lessons: 10 hours