ID:
SCV0816
Durata (ore):
48
CFU:
6
Anno:
2024
Dati Generali
Periodo di attività
Primo Semestre (23/09/2024 - 17/01/2025)
Syllabus
Obiettivi Formativi
The main objective of the “Molecular Diagnostics” course is to make the student familiar with protocols and technologies used in a Laboratory of Molecular Diagnostics, that are also used in any molecular biology and genetics research laboratories.
The course will describe:
- the main fields of application of Molecular Diagnostics (e.g. genetic diseases, cancer, infectious diseases), to provide the bases to understand the rest of the course;
- how to evaluate of the analytical, clinical and ethical aspects when designing a novel diagnostic test;
- the requirements to set up a molecular diagnostic laboratory and the choice of the test menu to be offered.
- basic information on certification and accreditation.
- the techniques and technologies commonly used in diagnostics and molecular pathology laboratories and the underlying principles, advantages and limitations. It will also describe possible applications, making several examples, providing the bases for designing novel technologies as well.
At the end of the course, the student will:
- acquire knowledge on how to set up a diagnostic laboratory, to design new diagnostic tests, how to report diagnostic test results and how to ensure quality control in diagnostics, including accreditation and certification;
- acquire knowledge on Molecular Biology and Molecular Genetics technologies applied in Molecular Diagnostic laboratories, including their theoretical bases;
- read critically guidelines and papers dealing with methods or clinical applications and understand the correct execution and interpretation of a molecular test;
- ability to apply the knowledge acquired in the field of Molecular Diagnostics to make decisions on the molecular assay to be applied to particular diagnostic queries
- apply an analytical approach in the Molecular Diagnostic field;
- apply a problem-solving approach for specific Molecular Diagnostic requests.
The course will describe:
- the main fields of application of Molecular Diagnostics (e.g. genetic diseases, cancer, infectious diseases), to provide the bases to understand the rest of the course;
- how to evaluate of the analytical, clinical and ethical aspects when designing a novel diagnostic test;
- the requirements to set up a molecular diagnostic laboratory and the choice of the test menu to be offered.
- basic information on certification and accreditation.
- the techniques and technologies commonly used in diagnostics and molecular pathology laboratories and the underlying principles, advantages and limitations. It will also describe possible applications, making several examples, providing the bases for designing novel technologies as well.
At the end of the course, the student will:
- acquire knowledge on how to set up a diagnostic laboratory, to design new diagnostic tests, how to report diagnostic test results and how to ensure quality control in diagnostics, including accreditation and certification;
- acquire knowledge on Molecular Biology and Molecular Genetics technologies applied in Molecular Diagnostic laboratories, including their theoretical bases;
- read critically guidelines and papers dealing with methods or clinical applications and understand the correct execution and interpretation of a molecular test;
- ability to apply the knowledge acquired in the field of Molecular Diagnostics to make decisions on the molecular assay to be applied to particular diagnostic queries
- apply an analytical approach in the Molecular Diagnostic field;
- apply a problem-solving approach for specific Molecular Diagnostic requests.
Prerequisiti
Students must possess basic knowledge of genetics, microbiology and molecular biology methods (particularly PCR).
Metodi didattici
The course will consist of lectures. Lectures will be based on PowerPoint presentations and occasionally on movies. Seminars and a visit to a diagnostic laboratory will also be organized during the course. Students will be actively engaged in activities in the last part of the course.
Verifica Apprendimento
The learning outcomes will be assessed through a single oral exam of approximately 30 minutes and, possibly, through a presentation in class of selected parts of specific articles (not mandatory but contributing to the final mark). The oral exam will consist of open questions on the topics of the course, aimed at testing:
1. knowledge and comprehension of the theoretical bases underlying specific diagnostic tests, their limits, advantages and disadvantages, when applied to specific diagnostic queries; knowledge of information to be provided in a diagnostic report for a specific molecular test;
2. ability to acquire relevant information from a scientific report and to identify critical aspects in a diagnostic method, when applied to a specific clinical query;
3. ability to apply the acquired expertise to design new molecular tests;
4. knowledge of the criteria needed to set up an accredited diagnostic laboratory;
The final mark, expressed in thirties, will depend on the marks of the presentation (up to 2 points) and the oral exam (up to 28 points). Honours will be given to students who demonstrate the capacity of integrating the different molecular mechanisms and experimental approaches. The exam will be considered passed with a final mark equal or higher than 18/30.
1. knowledge and comprehension of the theoretical bases underlying specific diagnostic tests, their limits, advantages and disadvantages, when applied to specific diagnostic queries; knowledge of information to be provided in a diagnostic report for a specific molecular test;
2. ability to acquire relevant information from a scientific report and to identify critical aspects in a diagnostic method, when applied to a specific clinical query;
3. ability to apply the acquired expertise to design new molecular tests;
4. knowledge of the criteria needed to set up an accredited diagnostic laboratory;
The final mark, expressed in thirties, will depend on the marks of the presentation (up to 2 points) and the oral exam (up to 28 points). Honours will be given to students who demonstrate the capacity of integrating the different molecular mechanisms and experimental approaches. The exam will be considered passed with a final mark equal or higher than 18/30.
Contenuti
The course is organized in class lectures and additional activities (e.g. visits at Molecular Diagnostics centers with accreditation, or seminars held by professionals employed in relevant Molecular Diagnostics structures), for a total of 48 hours (6 CFUs).
Class lectures will deal with the following topics:
- bases of genetic diseases and cancer
- set up of an accredited and certified laboratory of Molecular Diagnostics;
- Quality management;
- development of molecular tests, including their requirements in terms of accuracy and other clinical parameters;
- the clinical report regarding molecular diagnoses;
- ethical concerns on genetic testing;
- Genome organization, types of DNA variation and their effects;
- DNA methylation: the profile of genomic DNA methylation under physiological conditions; the enzymes involved in writing, maintaining and erasing DNA methylation; the role of DNA methylation;
- Molecular techniques applied to molecular diagnostics as well as their main applications:
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 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, Nanostring, branched DNA);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations and to prenatal screening (NIPT);
7) Techniques for the analysis of DNA methylation defects at gene specific and genomic levels (cancer, 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.
Students will be engaged in interactive discussion on selected “case reports” in which, after providing information needed to define the clinical setting, the competences acquired during the course will be used 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. Finally, students will have the opportunity to demonstrate their ability to critically read an article or guidelines from the scientific literature, regarding new diagnostic workflows/methods/tools and to present the deriving data in class.
Class lectures will deal with the following topics:
- bases of genetic diseases and cancer
- set up of an accredited and certified laboratory of Molecular Diagnostics;
- Quality management;
- development of molecular tests, including their requirements in terms of accuracy and other clinical parameters;
- the clinical report regarding molecular diagnoses;
- ethical concerns on genetic testing;
- Genome organization, types of DNA variation and their effects;
- DNA methylation: the profile of genomic DNA methylation under physiological conditions; the enzymes involved in writing, maintaining and erasing DNA methylation; the role of DNA methylation;
- Molecular techniques applied to molecular diagnostics as well as their main applications:
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 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, Nanostring, branched DNA);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations and to prenatal screening (NIPT);
7) Techniques for the analysis of DNA methylation defects at gene specific and genomic levels (cancer, 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.
Students will be engaged in interactive discussion on selected “case reports” in which, after providing information needed to define the clinical setting, the competences acquired during the course will be used 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. Finally, students will have the opportunity to demonstrate their ability to critically read an article or guidelines from the scientific literature, regarding new diagnostic workflows/methods/tools and to present the deriving data in class.
Lingua Insegnamento
INGLESE
Altre informazioni
The lecturers are available for explanations upon appointment, to be requested by email, using student’s institutional email address.
c.kilstrup-nielsen@uninsubria.it
paola.campomenosi@uninsubria.it
c.kilstrup-nielsen@uninsubria.it
paola.campomenosi@uninsubria.it
Corsi
Corsi
Biotechnology for the Bio-based and Health Industry
Laurea Magistrale
2 anni
No Results Found
Persone
Persone (2)
Docenti di ruolo di IIa fascia
Docenti di ruolo di IIa fascia
No Results Found