OVERVIEW

The course of Medical Genetics aims to provide students of the sixth year of medical training about consequences in clinical practice of medical genetic and of new diagnostic genetic tools now available. In particular, the course provides students with basic knowledge needed to MMG and PLS to target towards diagnostic and therapeutic appropriateness paths their patients.

AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

The teaching aims to provide students of medical training about consequences in clinical practice of medical genetic and of new diagnostic genetic tools now available.

At the end the student will be able to:

• To know how to recognize the main hereditary disease in the clinical practice.
• To know the main chromosomal disorders and know how to use the appropriate tests 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 main applications of pharmacogenetics 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 diagnosis of hereditary diseases.
• To know the psychological,  health, social and ethical issues, related to the diagnosis of hereditary diseases.
• To Know about rare diseases: relevant legislation, medication schedules, diagnosis.

TEACHING METHODS

The teaching consists of 16 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 (cystic fibrosis, spinal muscular atrophy)
• Clinical and genetic features of disease due to expansion of microsatellites (Friedreich's ataxia, myotonic dystrophy, fragile X syndrome)
• Clinical and genetic characteristics of neuromuscular diseases (muscular dystrophies, myopathies,  neuropathies)
• 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
• Clinical and genetic characteristics of the neurocutaneous syndromes, including clinical management and followup
• Genetic testing and genetic counseling for hereditary disease late onset: general principles and specific aspects.
• Clinical and genetic features of motor neuron diseases, including new genetic diagnostic tools
• Clinical and genetic features of dementias 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

TEACHERS AND EXAM BOARD

Exam Board

ALBERTO BALLESTRERO (President)

EMILIA BELLONE

FABIO FERRANDO

PAOLA MANDICH

FIAMMETTA MONACELLI

FABRIZIO MONTECUCCO

GIUSEPPE NOBERASCO

LIVIA PISCIOTTA

ROBERTO PONTREMOLI

ANDREA STIMAMIGLIO

GIUSEPPE MURDACA (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

I semester, from October 2018

EXAMS

EXAM DESCRIPTION

Written test will be focused on 30 multiple choice questions regarding two cases of genetic counsellig. The test will be performed online.In order to pass the examination the student has to reach a mark of at least 18/30.

ASSESSMENT METHODS

The test is carried out through the final exam that has the objective of determining the actual acquisition by the student of the expected learning outcomes. 

Exam schedule

FURTHER INFORMATION

Supplementary material is reported (and possibly supplied) during or after classes.