500136 - HUMAN GENETICS (A-L)

courses

ID:

500136

Duration (hours):

24

CFU:

SSD:

GENETICA MEDICA

Year:

2025

Date/time interval

Primo Semestre (01/09/2025 - 16/01/2026)

Course Objectives

The educational objectives of the course are: to make the student able to know the basic mechanisms of human inheritance modes and pathologies; to assess whether a disease has a genetically determined background; to have a broad vision of Mendelian genetic diseases but also of complex diseases with multifactorial etiology, in the context of the full family pedigree. As learning outcomes, we expect to train a future clinician who has the ability to apply the basic elements of medical genetics in his clinical practice, in a modern context of precision medicine.

Course Prerequisites

Good knowledge in the field of general biology, human anatomy and human physiology. In particular, a complete knowledge of the general biology course of the 1st year: structure and function of DNA and RNA;
protein synthesis; genetic mutations; structure, function and organization of chromosomes; mitosis and meiosis; basic elements of statistics; nucleic acid chemistry; protein chemistry; ability to use websites for scientific bibliographic research (e.g. PubMed); knowledge of the English language.

Teaching Methods

Frontal lessons; the teaching material will be made available to the students; the lessons will be organized in such a way that all the topics are illustrated by practical examples that demonstrate to students how the topic under discussion may have a practical application in their future in their professional activity. Teacher / students interaction will be stimulated as much as possible. During the lessons the student will learn the utility of several bionformatic tools useful in clinical genetics. Furthermore, scientific papers will be provided for in-depth analysis of the main topics of the course.

Assessment Methods

The exam can only be taken by those who have attended at least 75% of the lesson hours and after positive assessment for General Biology.
Written exam lasting 45 minutes consisting of an open question relating to the interpretation of a pedigree (maximum 6 points) and 25 multiple choice questions (5 answer options, only one correct; no penalty for incorrect answers; one point each correct answer). Evaluation scale 0-31 (30 with honors).
The result of the Human Genetics exam will be published on Esse3 (where the acceptance/refusal can be done
by the student). Concerning the registering, the students have to enroll directly on their personal area. Only one final grade will be reported in the student’s curriculum, representing the weighted arithmetic mean between the grades obtained for General Biology (4 CFU) and Human Genetics (3CFU) .

Texts

Genetica umana e medica di Giovanni Neri e Maurizio Genuardi, 2024, Edra Masson, ISBN 8821455203

A. Read and D. Donnai, New Clinical Genetics 4, 2020, Scion, ISBN 9781911510703

Bruno Dallapiccola, Giuseppe Novelli, Genetica medica, 2022, Edizioni Scientifiche Falco, ISBN 1280774061

The program includes: interpretations of genealogical trees; mechanisms of transmission of hereditary traits (autosomal recessive, autosomal dominant, X-linked, Y-linked, mitochondrial) - for each mechanism practical examples will be provided; DNA variability; mutations, types of mutation, mutation analysis, interpretation of results; elements of evolutionary genetics; human chromosomes; chromosomal disorders; next generation sequencing methods; bioinformatics tools; cancer genomics; epigenetics and imprinting; non-coding genome.