03553 - Medical Genetics

Learning outcomes

At the end of the module the student will have the knowledge and ability to understand the reconstruction of family trees, the calculation of the risk of recurrence, the methods of transmission of genetic diseases and the basic elements of counselling.

Course contents

MENDELIAN GENETICS: Definition of monofactorial hereditary diseases. Autosomal and X-linked, dominant and recessive diseases. Definition, construction and study of family trees: calculation of the risk of recurrence of a genetic disease with guided exercises in the classroom. Problems related to the interpretation of family trees: variable expressivity, incomplete penetrance, genetic heterogeneity, late-onset diseases, anticipation, germinal mosaicism. Clinical examples and molecular causes of exemplary Mendelian diseases.

GENETICS OF NON-MENDELIAN DISEASES: Mitochondrial genetics and pathology. Notes on epigenetics and imprinting diseases. Multifactorial (polygenic) diseases and empirical risk assessment. Epidemiological studies and susceptibility curves. Genetic polymorphisms and susceptibility.

CHROMOSOMAL PATHOLOGY: Chromosomal abnormalities of number and structure and related clinical manifestations. Gametogenesis of balanced translocation carriers. The karyotype for the diagnosis of chromosomal pathologies. Classical and molecular cytogenetics and its diagnostic applications.

ONCOLOGICAL GENETICS: Oncogenes and tumor suppressors. Notes on the mechanisms of tumorigenesis and cellular transformation processes. Hereditary-familial nature of tumors.

GENETIC COUNSELLING.

Readings/Bibliography

Campbell e Reece: Biologia e Genetica, ed Pearson 2012 (chapter 18)
Tobias, Connor, Ferguson-Smith: Fondamenti di Genetica Medica. Ed. Pearson.

The use of the textbook is optional, the study of the teaching material is considered sufficient for learning.

Teaching methods

Frontal lessons with PC presentations (powerpoint). In-class exercises on risk calculation with family tree as a mock exam.

Assessment methods

The learning assessment takes place through a written exam consisting of several multiple choice quizzes with a penalty for incorrect answers, several short open-ended questions on the theoretical parts of the teaching program, and a couple of risk calculation exercises with a family tree drawing, as simulated in the classroom during the exercises.

The exam test can also be carried out with an in itinere test mode, independently of the tests of the other two modules that make up the integrated course, with whose grades the final grade proposal will be averaged, rounded up.

Teaching tools

Students will be provided with the presentations shown during the lessons in electronic format.

Students will have access to a battery of multiple-choice quizzes and exercises on risk calculation as self-assessment tests, for personal use and without limits on attempts, organized by lesson, on the Virtuale platform.

Office hours

See the website of Giuseppe Gasparre