AIMS AND LEARNING OUTCOMES

• AIMS

The Course aims to introduce students to the basic and most relevant aspects of medical genetics. At the end of the course students will achieve the following outcomes important in the current clinical practice of medical genetics.

• LEARNING OUTCOMES (DETAILED)

At the end of the teaching and learning activities students will be able to:

• use the family pedigree to define inheritance patterns, instrumental for the diagnosis of the most frequently observed diseases (in the Italian population)
• know inheritance pattern of transmission, molecular pathogenic mechanisms and their clinical consequences of the most common hereditary diseases
• know the most frequent conditions associated with chromosome abnormalities and genetic tests used for their diagnosis.
• know the features of the main genetic tests (diagnostic, presymptomatic, predictive, prenatal)
• determine the appropriateness of a genetic test.
• know the main goals and methods of genetic counseling
• know individual concerns and ethical problems related to the diagnosis of inherited diseases.
• retain and use the proper scientific terminology. 

TEACHING METHODS

Class will be managed as frontal lectures on all topics of the program with Power Point presentations. The last part of each lesson will be dedicated to simple genetic problems solving.

Students can take advantage of online material, available on the AulaWeb page (https://www.aulaweb.unige.it). At the end of the Course, students will be allowed to access a simulation, and subsequent collective correction, of exam tests.

If necessary, lessons may be provided on-line, through specific platforms provided by the University, in relationship with the dispositions related to the Public Health situation.

SYLLABUS/CONTENT

• Human Mendelian inheritance: the phenotype analysis.
• Drawing-up a family pedigree on the basis of the family history.
• Different patterns of inheritance: autosomal dominant and recessive, X-linked.
• Molecular genetic approach to inherited human diseases, including methods of massive sequencing (Next Generation Sequencing - NGS).
• Features of the most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).
• Extension of Mendelian inheritance with examples.
• Cytogenetics: karyotype analysis, numerical and structural abnormalities.
• Prenatal genetic diagnosis: purposes and diagnostic techniques.
• Preimplantation genetic diagnosis: purposes and current law tendencies.
• Gene frequencies in populations: elementary basis
• Multifactorial inheritance: fundamental basis.
• Pharmacogenetics: fundamental basis.
• Genetic counselling: the most important purposes and how to use it.

RECOMMENDED READING/BIBLIOGRAPHY

Power point notes of class lessions are available for students to be downloaded from AulaWeb page (https://www.aulaweb.unige.it).Files are strictly for personal use only; files must not be shared on social media, posted on any internet website or put on any sharing platform; files must not be printed out for sale or photocopied.

Any other, more in-depth material is mentioned in the following textbooks:

• Maurizio Clementi “Elementi di Genetica Medica”, II edizione, EdiSES, 2020
• Neri G, Genuardi M “Genetica Umana e Medica”, terza edizione, Ediz. Masson.