84396 - MOLECULAR DIAGNOSTICS

Scheda insegnamento

Anno Accademico 2019/2020

Conoscenze e abilità da conseguire

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.

Programma/Contenuti

Diagnostic Technology

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.


Testi/Bibliografia

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


Metodi didattici

Frontal teaching with support of multimedia.

Modalità di verifica dell'apprendimento

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.

Strumenti a supporto della didattica

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

Orario di ricevimento

Consulta il sito web di Elena Bonora