MOLECULAR DIAGNOSTIC TECHNIQUES
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The main objective of the “Molecular Diagnostic Techniques” course is to make the student familiar to the procedures used in a Laboratory of Molecular Diagnostics.
The course will describe the techniques commonly used in diagnostics and molecular pathology laboratories and their underlying principles and applications, advantages and limitations, making several examples.
The course will also deal with evaluation of the features of a diagnostic test (sensitivity, specificity, predictivity), with the requirements to set up a molecular diagnostics laboratory and with the choice of the test menu to be offered. Finally, the course will provide basic information on how to obtain certification and accreditation.
Knowledge of genetics and molecular biology (particularly PCR). Basic knowledge of microbiology and immunology.
Class lectures (32 hours). Additional activities may be planned each year, such as visits at Molecular Diagnostics accreditated centers or seminars held by professionals employed in relevant Molecular Diagnostics structures
Class lectures will deal with the following topics:
- procedures to set up an accredited and certified laboratory of Molecular Diagnostics,
- Quality management
- development of molecular tests, including their requirements in terms of specificity, sensitivity and other clinical parameters
- data to be included in the clinical report regarding molecular diagnoses
- ethical concerns on genetic testing.
Then, the most up to date molecular techniques applied to molecular diagnostics as well as their main applications will be described:
1) Basic techniques such as amplification by Polymerase Chain Reaction (PCR), including primer design; DNA ligation and nucleic acids hybridization techniques, necessary to understand more sofisticated and specific protocols;
2) Mutation detection techniques;
3) Mutation screening techniques and sequencing (including pyrosequencing and Next generation sequencing);
4) Genotyping techniques and their applications (forensic analysis, transplants, farmacogenetics);
5) Qualitative and quantitative techniques for gene expression analyses, and for microbial/viral detection and identification, in order to provide information for diagnosis, prognosis, therapy and monitoring of therapy efficacy (including real time PCR, ddPCR, Next Generation Sequencing);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations;
7) Techniques for analysis of DNA methylation defects (tumours, imprinting defects).
The course will be enriched with several examples of application, and will also provide a brief description of pathologies or potential ethiological agents where the specific techniques can be applied for diagnostic/prognostic purposes.
Finally, we will work interactively on selected “case reports” in which, after providing information needed to define the clinical setting, we will use the competences acquired during the course to choose the techniques best suited to answer the diagnostic query, taking into account limits, advantages and disadvantages of each technique and the data that will be necessary to include in the diagnostic report.
Lectures. Students’ interaction will be strongly encouraged in class.
Oral examinations will consist of open questions on the topics treated during the course.
The exam is aimed at evaluating student’s abilities, in particular:
1. Knowledge and comprehension of theoretical bases underlying the single molecular analyses, their limits, advantages and disadvantages, also when applied to specific diagnostic queries; knowledge of information to be provided in a diagnostic report for a specific molecular test;
2. Ability to apply the acquired expertise to design new molecular tests;
3. Ability to acquire relevant information from a scientific report and to identify critical aspects.
4. Acquisition of the criteria needed to set up an accreditated diagnostic laboratory;
The final score is given in 30ies: the examination is successful if a score ≥ 18/30 is obtained
Materials provided by the lecturer:
1) Pdf files of course slides complete with reference to the textbooks and articles used for each topic;
2) scientific papers and guidelines for deepening knowledge of specific topics;
3) “Clinical Molecular Genetics Society (CMGS)” guidelines, focused either on specific techniques explained in the course or in pathologies used as application examples
Materials will be made available to students after each lecture, by uploading it on the e-learning academic platform.
Textbooks: although there are no textbooks that fully recapitulate the proposed course organization, several good textbooks are suggested. Some of them are also available for loan in the academic library of medicine and science (Via Dunant, 3):
- Patrinos, Ansorge. Molecular Diagnostics. 2° edition, Academic Press, 2010.
- Bruns, Ashwood, Burtis. Fundamentals of Molecular Diagnostics. Saunders Elsevier, 2007
- Buckingham L., Molecular Diagnostics. Fundamentals, Methods and Clinical applications, F.A. Davis Editor, ed. 2012
- Balestrieri, D’Amora, Giordano, Napoli, Pavan. In: Trattato Italiano di Medicina di Laboratorio, Volume IX, Diagnostica Molecolare nella Medicina di Laboratorio, Piccin Ed., Padova, 2009
- Scrijver Diagnostic Molecular Pathology in Practice. Springer Verlag, 2011
- Strachan, Read. Human Molecular Genetics. IV Edition, Garland Science 2010
Students can meet the professor in her study by appointment (phone or email).
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