Postgraduate Specialisation in Pathological Anatomy

Medical Genetics

Course code

4S000648

Name of lecturer

Anna Savoia

Number of ECTS credits allocated

1

Academic sector

MED/03 - MEDICAL GENETICS

Language of instruction

Italian

Site

VERONA

Period

not yet allocated

Learning outcomes

The main objective of the course is to provide basic information on the different aspects of human and medical genetics. The tools and knowledge needed to understand hereditary models, the pathogenetic significance of DNA alterations mainly in tumors, and genetic counseling will also be provided. The characteristics of some hereditary diseases related to the discipline will be discussed.

Syllabus

Inheritance patterns, gene and chromosomal alterations. Nomenclature of gene variants and guidelines for pathogenicity classification. Cancer genetics: oncogenes and tumor suppressors. Mechanisms of oncogene activation. Tumor suppressors: "two-hits" model. DNA repair mechanisms and diseases associated. ICL repair: Fanconi anemia model and phenotype reversion.

Reference books

See the teaching bibliography

Assessment methods and criteria