The course will provide students with knowledge of different aspects of human and medical genetics and the developed strategies to study the molecular mechanisms underlying these pathologies.

Knowledge and understanding: the student should achieve a good knowledge regarding the mechanisms regulating the hereditability of genetic traits, as well as the experimental approaches aimed at identifying the genetic causes of diseases.
Applying knowledge and understanding: the student should demonstrate in-depth knowledge about the genetic mechanisms defining the transmission of monogenic and multifactorial diseases. Furthermore, the student should be able to apply the scientific method for the evaluation and interpretation of experimental data and scientific literature.

Making judgements: the student should acquire critical skills and autonomy of judgment, demonstrating the ability to integrate different aspects of the discipline in a synthetic way and with proper scientific terminology.

Communication skills: during classes, students will be encouraged to interact and communicate with each other’s, prosing questions aimed at strengthening thee learned concepts. Exercises will be submitted to the students in order to test the acquired knowledge. Furthermore, students should be able to use the specific terminology of the discipline to describe the issues addressed during the course.

Learning skills. The student should be able to independently examine the topics learned during the course through the critical consultation of scientific articles.

Knowledge of the general aspects of genetics

The teaching contributes to the realization of the educational objective of the course in Medicine and Surgery by providing to the student with the knowledge of medical genetics. The main aim of the course is to provide students with knowledge regarding the different aspects of human and medical genetics and the strategies for the identification of molecular mechanism underlying these genetic diseases. The following topics will be covered:

• The human chromosomes. Karyotype. Chromosomal abnormalities. Abnormalities
of structure. Chromosomal diseases.
• Mendelian disorders: study of pedigrees, autosomal dominant and recessive patterns of inheritance, X-linked diseases, mitochondrial inheritance.
• Gene mutations and polymorphisms.
• Multifactorial diseases
• Genes and lifestyle
• Innovative therapies
• Genetic counselling

Genetica umana e medica di Neri Giovanni; Genuardi Maurizio editore Edra Masson

The teaching contributes to the realization of the educational objective of the course in Medicine and Surgery by providing to the student with the knowledge of medical genetics. The main aim of the course is to provide students with knowledge regarding the different aspects of human and medical genetics and the strategies for the identification of molecular mechanism underlying these genetic diseases. The following topics will be covered:

• The human chromosomes. Karyotype. Chromosomal abnormalities. Abnormalities
of structure. Chromosomal diseases.
• Mendelian disorders: study of pedigrees, autosomal dominant and recessive patterns of inheritance, X-linked diseases, mitochondrial inheritance.
• Gene mutations and polymorphisms.
• Multifactorial diseases
• Genes and lifestyle
• Innovative therapies
• Genetic counselling

Lectures
Any changes to the methods described here, which become necessary to ensure the application of the safety protocols related to the COVID19 emergency, will be communicated on the Department, Study Program and teaching website.

Student evaluation consists of a written/oral exam including open-ended and multiple-choice questions (a total of 26) and two exercises. The answers are assessed as follows: correct (1 point), unanswered (0 points), incorrect (-0.5 points). Each exercise is graded on a scale from 0 (not attempted) to 3 (correct and excellent). During the written/oral exam, the student must demonstrate the ability to elaborate on the concepts acquired during the course. The final exam grade is expressed on a scale of thirty (out of 30). To pass the exam (18/30), the student must demonstrate a sufficient understanding of the topics covered during the course. To achieve the highest score (30/30 with honors), the student must show an excellent understanding of all topics addressed in the course and answer all exam questions correctly. In particular, the grading scale is defined as follows: To pass the exam with a grade ranging from sufficient (18–20) to satisfactory (21–23), the student must show a basic understanding of the topics presented. The grade will be adjusted based on language proficiency and the ability to apply the acquired knowledge. The grades of good (24–26) and very good (27–29) require a solid understanding of the main topics covered. The final score will be based on both language proficiency and the ability to apply theoretical knowledge. To achieve the maximum score (30 or 30 with honors), the student must demonstrate an excellent understanding of all the topics discussed during the course, integrating them logically in their responses and presenting them with excellent language proficiency.

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