500455 - HUMAN GENETICS

insegnamento

ID:

500455

Durata (ore):

25

CFU:

SSD:

Genetica medica

Anno:

2026

Periodo di attività

Primo Semestre (01/10/2026 - 15/01/2027)

Obiettivi Formativi

At the successful conclusion of this module, you should be able to demonstrate the following Module Level Learning Outcomes:
LO.1 Knowledge & Understanding
You will acquire knowledge of:
• basic genetic nomenclature, Mendelian and complex inheritance, mutations, chromosomal abnormalities, multifactorial traits, diseases due to repeat expansions, mitochondrial diseases, and the principles of familial pedigree analysis, as well as the patterns of genetic variation relevant to human disease and classification of genetic variants.
LO.2 Application of Knowledge
You will be able to:
• recognize and interpret genetic concepts to analyse familial pedigrees, identify patterns of inheritance, and interpret simple genetic data using bioinformatic tools.
LO.3 Autonomy of Judgement
You will be able to:
• to identify correct conclusions about disease inheritance and genetic outcomes based on provided information, including pedigree analysis and basic molecular data.
LO.5 Learning Skills
You will be able to:
• Demonstrate responsibility for independent study by integrating lectures, readings, and teaching materials to consolidate the foundations of human genetics.

Prerequisiti

For further information please see the Integrated Course syllabus

Metodi didattici

Teaching methods include lectures, discussion and guided independent study. Lectures present key concepts (supports LO.1, LO.2), facilitate interactive discussion of clinical cases and laboratory approaches (supports LO.2-3) and are supported by the e-learning platform (supports LO.5). Teaching will include guidance to help you prepare for the exam and throughout you will be presented with references to further readings and other materials to support your development (supports LO.5).

Verifica Apprendimento

For further information please see the Integrated Course syllabus

Testi

• R.L. Nussbaum, R.R. McInnes, H.F. Willard. Thompson & Thompson Genetics in Medicine. 9th ed. Edises.
Additional materials, including selected scientific articles will be distributed via the KIRO e-learning platform

Contenuti

This module introduces students to the fundamental mechanisms of inheritance and human diseases. It enables students to assess whether a disease has a genetically determined background and provides a broad view of Mendelian and complex diseases with multifactorial aetiology within the context of complete familial pedigrees. Topics include genetic nomenclature; mutations (coding and cryptic), variants, and polymorphisms; pedigree design; modes of inheritance; chromosomal abnormalities; mitochondrial inheritance; repeat expansions and multifactorial traits. Teaching combines frontal lessons, practical examples, bioinformatic tools for variant interpretation, and analysis of scientific papers, preparing students to apply the principles of medical genetics in clinical practice within the context of precision medicine.