OVERVIEW

The integrated course, organized in three teaching components, leads the student to a solid grounding in the knowledge of the main issues related to genetic diseases useful in the clinical and laboratory practice; it introduces to laboratory diagnostic methodologies applied to microbiology and virology, and to human and medical genetics. Additionally, the course aims to provide students with in-depth knowledge of the principles and methodologies of scientific research applied to biomedical sciences. This prepares them to integrate theoretical and practical knowledge while promoting a multidisciplinary approach to biomedical research.

AIMS AND CONTENT

LEARNING OUTCOMES

Acquire fundamental knowledge on the genetic basis and molecular mechanisms underlying human pathologies through the study of the transmission of characters and the analysis of genetic and chromosomal alterations. Strengthen concepts relating to inheritance models of Mendelian traits and related extensions; acquire knowledge for the application of investigation methodologies aimed at identifying genes and pathological mutations in humans. Define the different types of genetic tests and provide the basic elements of genetic counseling. Acquire the elements of the main molecular biology techniques useful in diagnostics. Acquire knowledge on the organization of areas and workflow within the laboratory: sample acceptance, preparation of methods (nucleic acid extraction, amplification, detection) and technical validation. Pre-analytical, analytical and post-analytical phase of the molecular biology laboratory. The scientific method; Role of the TSLB in the research laboratory; Types and applications of biomedical research; Controls, replicates and significance; Basic and advanced instrumentation; Main cellular and molecular techniques; “-omics” and new technologies: “facilities”; Biobanks and databases; Bibliographic research and evaluation parameters; Structure of a scientific article and learning of the methods contained.

PREREQUISITES

Please refer to the prerequisites required for each single teaching fraction.

TEACHING METHODS

Teaching methods: Please refer to the prerequisites required for each single teaching fraction.

SYLLABUS/CONTENT

Please refer to the prerequisites required for each single teaching fraction.

RECOMMENDED READING/BIBLIOGRAPHY

Please refer to the prerequisites required for each single teaching fraction.

TEACHERS AND EXAM BOARD

LESSONS

LESSONS START

Please refer to the prerequisites required for each single teaching fraction.

Class schedule

MEDICAL GENETICS AND GENETIC TECHNIQUES

EXAMS

EXAM DESCRIPTION

Written exam, with both open and multiple choice questions, covering the topics of the different modules. In order to pass the examination the student has to reach a passing grade of at least 18/30. The total amount of time allowed for the examination is around 90 minutes.

Students enrolled in other universities or other degree courses who are only required to sit for some of the sub-sections must achieve an average passing grade, depending on the number of subsections.

Students who have valid certification of physical or learning disabilities on file with the University and who wish to discuss possible accommodations or other circumstances regarding lectures, coursework and exams, should speak with both the instructor and the Department’s disability liaison officer.

ASSESSMENT METHODS

Students are assessed by the final exam aiming at ensuring that they have actually reached the required level of knowledge in all the modules (see specific sections for details).

In order to pass the examination and to reach a mark of at least 18/30.