Knowledge and understanding: At the end of the course the student will have to demonstrate their knowledge regarding the features of the main genetic conditions (chromosomal disorders, Mendelian diseases and multifactorial traits/diseases). Additionally, the student will have to demonstrate their knowledge regarding the main response mechanisms of the immune system and the pathophysiological bases of autoimmune disorders and allergies, with particular attention to the modifications of the immune system in specific conditions, as senescence, tumours, organ transplantation, or transfusions. Lastly, the student will have to demonstrate their knowledge of the organization of the human body, both from a macroscopic/topographic and a microscopic point of view.

Applying knowledge and understanding: At the end of the course the student will have to be able to:
- Evaluate and provide an interpretation of clinical cases related to genetic diseases;
- Forsee the possible compensation mechanisms that the body implements to face infections and identify the pathophysiological mechanisms of immune-mediated diseases.
- Express the main morphology and semeiology notions learnt during the module on human anatomy.

Making judgements: At the end of the course the student will have to acquire critical skills and autonomy of judgment, demonstrating the ability to connect the different aspects of the three disciplines in a concise and clear way. The student will have to demonstrate to be able to formulate hypotheses to elaborate and deepen the acquired knowledge, taking advantage of the relevant scientific literature.

Communication skills: At the end of the course the student will have to demonstrate to be able to clearly explain the acquired concepts using the correct scientific terminology.

Learning skills: At the end of the course the student will have to demonstrate to be able to independently explore the topics covered by the course, through the critical consultation of scientific articles, textbooks and other documentation provided by the teachers and apply the notions learnt in the subsequent learning courses.

Knowledge of the general aspects of biology.

Medical Genetics
The main aim of the module is to provide students with knowledge regarding the fundamental concepts of human and medical genetics and the available strategies to study the molecular mechanisms underlying genetic diseases.

Allergology and clinical immunology
The main aim of the module is to provide students with knowledge regarding the basic concepts of innate and adaptive immunity, immunological tolerance, antibody response and monoclonal antibodies, allergies and hypersensitivity reactions, vaccines, and role of the immune system in specific conditions, as aging or tumours.

Human anatomy
The main aim of the module is to provide students with knowledge regarding the systematic anatomy, through a full descriptions of the organs and apparatuses of the human body.

Medical Genetics:
- “Thompson & Thompson Genetics and Genomics in Medicine”. Robert Nussbaum et al. Elsevier. 2023.
- “Genetics and Genomics in Medicine”. Tom Strachan, Anneke Lukassen. Taylor & Francis Ltd. 2022.
- “Human molecular genetics”. Tom Strachan, Andrew Read. Taylor & Francis Ltd. 2019.

Allergology and clinical immunology:
- “Le basi dell'immunologia. Fisiopatologia del sistema immunitario” (ed 2017) by Abul K. Abbas (Autore), Andrew H. Lichtman (Autore), Shiv Pillai (Autore), Silvano Sozzani (a cura di), EDRA Ed.

Human anatomy:
- “Anatomia Umana” by Martini - Timmons - Tallitsch EdiSES 2016.

Medical Genetics
The following topics will be covered:
1. Introduction to Genetics and cell cycle: human genome structure (nuclear and mitochondrial DNA organization); mitosis and meiosis.
2. Chromosomes and chromosomal aberrations: classic and molecular karyotype; chromosomal aberrations and meiotic non-disjunction; examples of pathologies.
3. Mendel’s laws and transmission of Mendelian disorders: autosomal dominant, recessive, X-linked dominant and recessive, Y-linked inheritance; codominance; penetrance and expressivity; mosaicism; examples of diseases.
4. Variants and polymorphisms: variants classification (synonymous, missense, non-sense, frameshift, splicing variants, insertions, deletions); polymorphisms.
5. Multifactorial diseases: quantitative and qualitative traits; association studies.

Allergology and clinical immunology
The following topics will be covered:
1. Immunity (concept of);
2. Innate immunity;
3. The Complement;
4. Adaptive immunity;
5. The cells of the immune system;
6. Cytokines;
7. HLA and antigen presentation;
8. Immunological tolerance;
9. Activation of T and B lymphocytes;
10. Antibodies;
11. Primary and secondary antibody response;
12. Blood groups and antibodies;
13. Monoclonal antibodies;
14. Hypersensitivity reactions;
15. Allergies;
16. The vaccines;
17. Immunity and aging;
18. Immunity and tumors;
19. Immunodeficiencies.

Human anatomy
During the module, the following organs and apparatuses will be analysed:
1. Integumentary system (skin);
2. Muscular-skeletal apparatus;
3. Cardiovascular system with references to the blood morphology;
4. Urinary system;
5. Digestive system;
6. Respiratory system;
7. Endocrine glands;
8. Fundamental morpho-functional features of the central and peripheral nervous system.

Lectures: Powerpoint slides with images. During the Human anatomy module, anatomic and topographic 3D models will be used as an aid to comprehension.

Teachers are available for clarifications on the covered topics, via e-mail or face-to-face interviews.

Ongoing tests of the three modules are based on each specific program; each separate grade will be recorded on the online platform Esse3. The final grade will be expressed on a 30-point scale and will be calculated as a weighted average based on the number of credits attributed to each module. In order to determine the final mark, it has to be noted that the grade 30 with honours in the partial test of each module will be numerically transformed into a score of 31. To achieve the final mark of 30 with honours, the weighted average of the three separate modules will have to be >30.5.
The following grading system will be applied:
- Excellent (30 - 30 with honours): excellent knowledge of the subject and technical language proficiency, autonomous critical and analytical skills, and outstanding ability to apply acquired knowledge to concrete scenarios.
- Very good (27-29): above the average knowledge of the subject and technical language, adequate autonomous critical and analytical skills, and ability to apply acquired knowledge to concrete scenarios.
- Good (24-26): good knowledge of the subject and technical language, autonomous critical and analytical skills, and ability to apply acquired knowledge in most areas.
- Satisfactory (21-23): reasonable knowledge of the subject and technical language, autonomous critical and analytical skills, and limited ability to apply acquired knowledge to concrete scenarios.
- Sufficient (18-20): sufficient or fair knowledge of the subject, very limited mastery of the technical language
- Insufficient (<18): insufficient knowledge of the subject and absence of judgments and independent thinking.

This course explores topics closely related to one or more goals of the United Nations 2030 Agenda for Sustainable Development (SDGs)