Knowledge and understanding: the student must acquire specific and targeted knowledge of medical genetics and the laws that govern the transmission of hereditary traits Ability to apply knowledge and understanding: the student must be able to apply knowledge of biology and genetics to understand the main genetic pathologies, their cause and transmission modalities. Autonomy of judgment: the student must be able to use the knowledge acquired to develop his own autonomy of judgment on the characterization of the methods of transmission of genetic diseases through the analysis of a pedigree. It must also be able to independently identify the risk of recurrence of the main genetic pathologies. Communication skills: at the end of the course the student will have to know and use a correct and appropriate technical-professional terminology and be able to correctly communicate information relating to assistance problems in the field of medical genetics Learning skills: at the end of the course, the student must be able to demonstrate that he has learned the main topics of the course and be able to prepare for the exam by planning and managing the study individually based on the content of the lessons, the material instructional delivered and suggested sources for more information.

Knowledge of the general aspects of biology

1. Nucleus, chromosomes and DNA
2. Mendel's laws
3. Human chromosomes and karyotype
4. Chromosomal anomalies and related diseases
5. Inheritance patterns of monogenic traits
6. Mutations and polymorphisms
7. Exceptions to Mendelian inheritance
8. Multifactorial traits

Strachan T., Lukassen A, “Genetica & Genomica nelle scienze mediche”, Zanichelli

 1. Nucleus, chromosomes and DNA
- Structure and organization of the cell nucleus
- Composition and structure of chromosomes
- DNA structure and function
- DNA replication

2. Mendel's laws
- First law of Mendel
- Second law of Mendel
- Third law of Mendel

3. Human chromosomes and karyotype
- Structure and number of human chromosomes
- Karyotype analysis techniques
- Interpretation of normal human karyotype

4. Chromosomal anomalies and related diseases
- Numerical anomalies: aneuploidies and polyploidies
- Structural anomalies: deletions, duplications, inversions, translocations
- Most common chromosomal syndromes (e.g., Down syndrome, Turner syndrome, Klinefelter syndrome)

5. Inheritance patterns of monogenic traits
- Autosomal dominant and recessive inheritance
- X-linked inheritance
- Penetrance and expressivity
- Analysis of family pedigrees

6. Mutations and polymorphisms
- Types of gene mutations: point mutations, frameshift mutations, expansions
- Effects of mutations on protein function
- Genetic polymorphisms and their importance in medicine

7. Exceptions to Mendelian inheritance
- Epigenetics
- Genomic imprinting
- Triplet repeat expansion
- Mosaicism

8. Multifactorial traits
- Concept of heritability
- Gene-environment interactions
- Examples of multifactorial diseases
- Approaches to studying multifactorial traits

Lectures with the use of PowerPoint or compatible file format projections.

The PowerPoint presentations are available on the Microsoft Teams digital platform.

The exam consists of 15 multiple-choice questions and 1 open-ended question. The 15 multiple-choice questions are divided into two groups: 6 questions worth a maximum of 3 points each and 9 questions worth a maximum of 1 point each. The duration of the exam is 1 hour. The final grade is out of 30 points according to the following criteria:

- For the 6 questions worth a maximum of 3 points each: 3 points for each correct multiple-choice answer, and 0 points for incorrect or missing answers.
- For the 9 questions worth a maximum of 1 point each: 1 point for each correct multiple-choice answer, and 0 points for incorrect or missing answers.
- For the open-ended question: 3 points if the student demonstrates an excellent understanding of the topic, provides a comprehensive and well-articulated response with excellent language proficiency. A lower score, down to 1 point, is given if the response is incomplete, partially correct, or if the topic is presented in a confusing manner with poor or no language proficiency. 0 points are given if the student does not answer or demonstrates an unacceptable knowledge of the content.

This course delves into topics closely related to one or more objectives of the United Nations' 2030 Agenda for Sustainable Development.