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MEDICAL AND CANCER GENETICS

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MEDICAL AND CANCER GENETICS

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Academic year 2023/2024

Course ID
SVB0062
Teaching staff
Claudia Giachino (Lecturer)
Antonella Roetto (Lecturer)
Tiziana Venesio (Lecturer)
Degree course
Cellular and Molecular Biology
Year
2nd year
Teaching period
Semester 1
Type
Related or integrative
Credits/Recognition
6
Course disciplinary sector (SSD)
MED/03 - medical genetics
MED/08 - pathology
Delivery
Formal authority
Language
English
Attendance
Lessons optional and laboratories mandatory
Type of examination
Written
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Sommario del corso

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Course objectives

This teaching contributes to the learning objectives included into the Biomedical area of the Master in Cellular and Molecular Biology, providing knowledge and applicative abilities about the genetic basis of monogenic, chromosomal  and complex human diseases (including oncological disease). We will develop application aspects, such as diagnostic and therapeutic possibilities of genetic-based diseases, and will deepen the aspects related to the new technologies enabling an innovative approach to applied research in medical and cancer genetics. This will complete biomedical training of students with the latest information about the genetic causes of these diseases and their assessment.

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Results of learning outcomes

KNOWLEDGE AND UNDERSTANDING
Knowledge of medical genetics
ABILITY TO APPLY KNOWLEDGE AND UNDERSTANDING
Learn about the genetic basis of diseases and the use of genetic testing for diagnosis, for the study of the susceptibility and for the prevention of genetic diseases
AUTONOMY OF JUDGEMENT
Be able to understand the scientific literature on the subject, and evaluate the potential applications in medical practice
COMMUNICATION SKILLS
Develop terminology and information to be transferred to potential users.

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Course delivery

Teaching includes 6 CFUs (48 hours of face-to-face lectures).

All lectures will be delivered in presence, subject to updates on the measures adopted by UniTo which can be found on the University portal under "Provisions for those who study and work at UniTo" (see https://en.unito.it/studying-unito)

Lectures and integrative activities:

  1. Slides of the lectures available on Moodle platform;
  2. Exercises provided on Moodle platform.
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Learning assessment methods

Exams will take place in presence, subject to updates on the measures adopted by UniTo which can be found on the University portal under "Provisions for those who study and work at UniTo" (see https://en.unito.it/studying-unito)

The final learning assessment will be held in written form (Moodle platform or manual).

The candidate is offered 10 open-ended questions (half for medical genetics and half for cancer genetics), which can start from a case, a result of a test, an image, and which can be articulated in sub-questions. Among the 5 medical genetics questions, 1 problem can also be included, whose relative weight is the same as for open-ended questions (1/5). Time: 120' (60' for Medical Genetics and 60' for Cancer Genetics). The maximum grade will be 32/30. Grading 31-32 will give rise to "30 cum laude".

Academic conduct: The penalty for course-related dishonesty (ei. cheating on exams, plagiarism, etc) will be a failure for the entire course.

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Program

Introduction to the course
Genes, genomes and genetic diseases genetic variability
Classification of genetic disorders
Transmission of characters and Examples of monogenic diseases
Risk of recurrence of monogenic diseases
Methods of study of the alteration of genetic information: DNA tests
The diagnosis of hereditary diseases
Prenatal diagnosis of genetic diseases
Outline of human cytogenetics: the structure of chromosomes and their study.
The chromosomal diseases and their causes
The diagnosis of chromosomal alterations
Risk of recurrence of chromosomal disorders
Molecular Cytogenetics and fields of application
Multifactorial or complex diseases
Immunogenetics
Gene therapy, stem cells and applications in medicine
Treatment of genetic diseases
Exercises and course evaluation
Hereditary tumors, family and sporadic
Oncogenes and tumor suppressor genes
Genetic markers, linkage analysis and linkage disequilibrium, positional cloning and candidate gene approach
The model of retinoblastoma and the loss of heterozygosity in the study of tumor suppressor genes
Mutations and their characterization
Hereditary tumors transmitted dominant and recessive cancer of the colon
Hereditary tumors and shelter systems: cancer of the colon and breast cancer, hereditary tumors, family and sporadic gastric cancer and melanoma
Stem cells and cancer
Qualitative and quantitative variations of splicing, alternative splicing as a low-penetrance allele, RNA interference therapy
Oncogene addiction and targeted therapy

Suggested readings and bibliography

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-Speicher, Antonarakis, Motulsky Editors

Vogel and Motulsky's Human Genetics

Problems and approaches

Springer



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Last update: 13/05/2024 16:17
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