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Internal Medicine and Medical Genetics - module of Medical Genetics
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Medical Genetics
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Academic year 2023/2024
- Course ID
- SCB0223B
- Teacher
- Daniela Francesca Giachino (Lecturer)
- Year
- 5th year
- Teaching period
- First semester
- Credits/Recognition
- 2
- Course disciplinary sector (SSD)
- MED/03 - medical genetics
- Delivery
- Formal authority
- Language
- English
- Attendance
- Mandatory
- Type of learning unit
- modulo
- Modular course
- Internal Medicine and Medical Genetics (SCB0223)
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Sommario del corso
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Program
- From the lab to the clinics: basic concepts and real examples of pedigrees, transmission models, type of mutations, penetrance, variable expressivity, pleiotropy, linkage, one gene-one disease vs many genes-many diseases, somatic and germline mosaicism, polymorphisms, and the concepts of population genetics that are relevant in medicine. Genetic and genomic investigations.
- From the clinics to the lab: clinical reasoning in medical genetics, types of biological samples, diagnostic and pre-symptomatic gene testing, genetic counselling, available databases, guidelines, general issues of privacy, confidentiality and consent.
- Cancer genetics: inherited specific tumour syndromes (familial breast and ovarian cancer, colorectal cancer syndrome, multiple endocrine neoplasia) and other genetic syndromes predisposing to malignancy, collaboration between specialities, screening recommendations and personalized follow-up.
- The genetic counselling for specific organ systems (neurology, cardiovascular and respiratory medicine, nephrology, ophthalmology, etc).
- Prenatal genetics and chromosomal pathology
- Future perspectives: genetic screening, pharmacogenetics, testing susceptibility to complex diseases.
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Learning assessment methods
The exam tests will cover all the disciplines included in the course and the final score proportionally will take into account the results of each module.
Examination arrangements
Written and oral.
- Written:
- MED/16 – Rheumatology
- MED/09 – Internal Medicine
- MED/03 - Medical Genetics
- Oral:
- MPSI/08 – Clinical Psychology
- MED/09 – Internal Medicine
The genetics test is carried out on the Moodle platform and includes 2 open questions on clinical cases (10 points each) and 4 short questions (3 points each).
The first open question has a general framework for a patient with a suspected genetic pathology. The second open question is on a specific genetic pathology which will be communicated to the students registered for the test, at the close of registration for the session, together with a selection of in-depth material.
The four short questions are related to the molecular aspects of the pathology of question number 2, and the course program and materials.
Previous exams will be examined during the lessons.
- Written:
Suggested readings and bibliography
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Notes
Students with DSA or disabilities are kindly requested to take note of the reception services and support services offered by the University of Turin, and in particular of the procedures required for exam support.
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