84396 - Molecular Diagnostics

Course Unit Page

Academic Year 2019/2020

Learning outcomes

Describe the principles and applications of molecular tests, including advanced genomic technologies, in the diagnosis of genetic diseases. Discuss the potential applications of genome editing technology in medicine.

Course contents

In the present integrated course different approaches involved in the diagnostic process are presented and critically discussed.

These include:

- the skills and methodologies associated with diagnostic surgical pathology, cytopathology, molecular pathology and autopsy pathology.

- the principles of innovative technologies for substitutive medicine (artificial organs) and regenerative medicine.

- skills and techniques used in clinical pathology to understand the clinical meaning of laboratory data which characterize common pathological conditions.

- the clinical biochemistry skills and techniques to evaluate the functional state of organs and tissues, using liquid and solid samples from patients.

- principles and applications of the major techniques used in radiology and nuclear medicine, the principal sources of radiological risk and the relevant protective measures for operators and patients.

- principles and applications of molecular tests, including advanced genomic technologies, in the diagnosis of genetic diseases.

The course module in Molecular Diagnostics will investigate the major areas of genetics diagnostics in human diseases, with a focus on the most up-to-date technologies available in clinical settings. Topics will include:

· Mutation detection technologies

· Identification of structural abnormalities/ variations in the human genome

· Next-generation-sequencing technologies, target selection, data analysis and interpretation in clinical settings

· Genome editing technologies

· Prenatal testing and NIPD (non-invasive prenatal diagnosis)

Scientific literature and reviews on the different topics will be provided directly on the e-learning platform available.

Readings/Bibliography

Scientific literature and reviews on the different topics will be provided directly on the e-learning platform available for the students of the course. 

 


Teaching methods

Frontal teaching with support of multimedia. 

Attendance to learning activities is mandatory; the minimum attendance requirement to be admitted to the final exam is 60% of lessons. For Integrated Courses (IC), the 60% attendance requirement refers to the total amount of I.C. lessons. Students who fail to meet the minimum attendance requirement will not be admitted to the final exam of the course, and will have to attend relevant classes again during the next academic year.

Professors may authorise excused absences upon receipt of proper justifying documentation, in case of illness or serious reasons. Excused absences do not count against a student’s attendance record to determine their minimum attendance requirement.

Assessment methods

Final evaluation will be performed by means of a joint test on all topics covered in the integrated course. The test will be based on 40 multiple choice questions (4 available aswers, only one is correct). In general, at least 5 questions from each different teaching module will be included in the test. The exam is passed (score 18) when at least 24 questions are correctly answered. When all the questions are answered correctly the final score will be 30, with honours.


Teaching tools

Powerpoint presentations, web-based programs for genetic analyses (free download).

Office hours

See the website of Elena Bonora