AIMS AND LEARNING OUTCOMES

At the end of the course the student will be able to:

• To know how to recognize the main hereditary disease in the clinical practice.
• To know the most important conditions associated with chromosome abnormalities and genetic tests used for their diagnosis.
• To know the characteristics of the main genetic testing (diagnostic, presymptomatic, predictive, pre-natal)
• To know how to propose genetic testing in an appropriate setting according to their specificity, sensitivity and predictive value and clinical utility.
• To know purposes and methods of genetic counseling
• To know the mais features and the actual laws context of prenatal and preimplantation genetic testing
• To know the main applications of omics in clinical practice
• To know how to propose molecular-genetic tests and administer a written consensus for carrying out a genetic test.
• To know how to communicate to the patient and family a diagnosis of hereditary diseases.
• To know the psychological, health, social and ethical issues, related to the diagnosis of hereditary diseases.
• To know general features of rare diseases: relevant legislation, medication schedules, diagnosis.

TEACHING METHODS

The teaching consists of 20 hours of classroom training with theoretical lessons (in the co-presence of different teachers) on all matters of the program and illustrative case reports.

SYLLABUS/CONTENT

• Clinical and genetic features of frequent inherited diseases in the Italian population, and practical implications, including newborn screening
• Clinical and genetic features of disease due to expansion of microsatellites
• Clinical and genetic characteristics of neuromuscular diseases
• Chromosomal abnormalities and related genetic testing, including prenatal diagnosis.
• Prenatal tests in current and future clinical practice, including medically assisted procreation applied to genetics. Legislation and technological innovations. Ethical and clinical issues. Clinical examples
• Preconception genetic counseling: mental retardation, malformations, consanguinity, miscarriage. Clinical examples
• Genetic testing and genetic counseling for hereditary disease late onset: general principles and specific aspects.
• Clinical and genetic features of motor neuron diseases, demetias, parkinsonisms, including new genetic diagnostic tools
• Rare diseases: relevant legislation, medication schedules, diagnosis.

RECOMMENDED READING/BIBLIOGRAPHY

All topics covered in the classroom students are available (slides and case reports) 

From 15 to 33 Chapters  on “Genetica umana e medica” Neri e Genuardi, Masson Editore