Cellular and Molecular Biology

MEDICAL AND CANCER GENETICS

MEDICAL AND CANCER GENETICS

Academic year 2017/2018

Sommario del corso

• Course objectives
• Results of learning outcomes
• Learning assessment methods
• Program
• Teaching tools

Course objectives

The aim of the course is to provide students with knowledge about the
genetic basis of human diseases. 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 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.

Learning assessment methods

The candidate is offered a few open-ended questions and some problems of medical genetics.

Scritto (che consiste in risposte brevi a quesiti aperti) Al candidato vengono proposte una decina di quesiti, che prendono avvio da un caso, un risultato di un test, un’immagine, e che si articolano ciascuno in 3-4 domande.

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

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