Cellular and Molecular Biology

MEDICAL AND CANCER GENETICS

MEDICAL AND CANCER GENETICS

Academic year 2022/2023

Sommario del corso

• Course objectives
• Results of learning outcomes
• Course delivery
• Learning assessment methods
• Program
• Suggested textbooks and readings
• Teaching tools

Course objectives

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

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.

Course delivery

Teaching includes 6 CFUs (48 hours of face-to-face lectures). All lessons will be delivered in presence. Alternative online teaching (by streaming) may be introduced according to the University recommendations related to the status of the COVID-19 pandemic.

Lectures and integrative activities:

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

Learning assessment methods

Exams will take place exclusively in presence with the only exception of students who self-declare, in relation to Covid-19, personal fragility or positivity.

Remote examinations may be introduced according to the University recommendations related to the status of the COVID-19 pandemic. 

The final learning assessment will be held in presence, in written form (Moodle platform).

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. 1-2 problems of medical genetics are also included. Time: 120' (60' for medical genetics and 60' for cancer genetics). The maximum grade will be 33/30. Grading 31-33 will give rise to "30 cum laude".

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

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
Concepts of medical genetics applied to artificial insemination
Cystic diseases of the kidney, as an example of monogenic disease
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
Disease Celiac disease as an example of Complex
Stem cells and application 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

-Speicher, Antonarakis, Motulsky Editors

Vogel and Motulsky's Human Genetics

Problems and approaches

Springer

• Teaching materials
• Exams and finals
• Go to Moodle
• Visit the forums