ID:
SCV0816
Durata (ore):
48
CFU:
6
Anno:
2026
Dati Generali
Periodo di attività
Primo Semestre (03/10/2026 - 27/01/2027)
Syllabus
Obiettivi Formativi
AIMS
The main objective of the Molecular Diagnostics course is to provide students with the knowledge and skills required to understand, select and critically evaluate protocols and technologies used in molecular diagnostics laboratories. Many of these methods are also widely used in molecular biology and genetics research laboratories.
The course will address:
- the main fields of application of molecular diagnostics, including inherited diseases, cancer and infectious diseases;
- the evaluation of analytical, clinical and ethical aspects involved in the development of a molecular diagnostic test;
- the requirements for setting up a molecular diagnostics laboratory, including the selection of the test portfolio;
- the principles of laboratory accreditation, certification and quality management;
- the principles, applications, advantages and limitations of techniques and technologies commonly used in molecular diagnostics and molecular pathology laboratories;
- the interpretation and reporting of molecular diagnostic results;
- the application of molecular methods to specific diagnostic questions.
Expected learning outcomes
At the end of the course, students will be able to:
- describe the organizational and quality requirements for setting up a molecular diagnostics laboratory;
- explain the theoretical principles underlying the main molecular diagnostic technologies;
- compare the advantages, limitations and fields of application of different molecular methods;
- select an appropriate molecular assay for a specific diagnostic question;
- interpret the results of a molecular diagnostic test;
- identify the information required in a molecular diagnostic report;
- critically evaluate scientific articles, guidelines and diagnostic workflows;
- design a basic molecular diagnostic workflow, taking analytical and clinical requirements into account;
- discuss ethical issues associated with genetic and molecular testing;
- apply analytical and problem-solving approaches to diagnostic case studies.
The main objective of the Molecular Diagnostics course is to provide students with the knowledge and skills required to understand, select and critically evaluate protocols and technologies used in molecular diagnostics laboratories. Many of these methods are also widely used in molecular biology and genetics research laboratories.
The course will address:
- the main fields of application of molecular diagnostics, including inherited diseases, cancer and infectious diseases;
- the evaluation of analytical, clinical and ethical aspects involved in the development of a molecular diagnostic test;
- the requirements for setting up a molecular diagnostics laboratory, including the selection of the test portfolio;
- the principles of laboratory accreditation, certification and quality management;
- the principles, applications, advantages and limitations of techniques and technologies commonly used in molecular diagnostics and molecular pathology laboratories;
- the interpretation and reporting of molecular diagnostic results;
- the application of molecular methods to specific diagnostic questions.
Expected learning outcomes
At the end of the course, students will be able to:
- describe the organizational and quality requirements for setting up a molecular diagnostics laboratory;
- explain the theoretical principles underlying the main molecular diagnostic technologies;
- compare the advantages, limitations and fields of application of different molecular methods;
- select an appropriate molecular assay for a specific diagnostic question;
- interpret the results of a molecular diagnostic test;
- identify the information required in a molecular diagnostic report;
- critically evaluate scientific articles, guidelines and diagnostic workflows;
- design a basic molecular diagnostic workflow, taking analytical and clinical requirements into account;
- discuss ethical issues associated with genetic and molecular testing;
- apply analytical and problem-solving approaches to diagnostic case studies.
Prerequisiti
Students are expected to have basic knowledge of:
- genetics;
- microbiology;
- molecular biology;
- nucleic acid structure and function;
- molecular biology methods, particularly PCR.
- genetics;
- microbiology;
- molecular biology;
- nucleic acid structure and function;
- molecular biology methods, particularly PCR.
Metodi didattici
The course comprises 48 hours (6 ECTS credits) of teaching activities, including:
- lectures supported by slides, diagrams, examples and, where appropriate, videos;
- seminars delivered by professionals working in molecular diagnostics;
- a possible visit to an accredited molecular diagnostics laboratory;
- interactive discussion of diagnostic case studies;
- critical analysis of scientific articles and guidelines;
- short presentations prepared and delivered by students.
During case-based activities, students will be asked to select the most appropriate molecular method for a specific diagnostic question, considering its analytical performance, clinical relevance, advantages and limitations.
Students will also analyse the information required for the interpretation and reporting of molecular diagnostic results.
- lectures supported by slides, diagrams, examples and, where appropriate, videos;
- seminars delivered by professionals working in molecular diagnostics;
- a possible visit to an accredited molecular diagnostics laboratory;
- interactive discussion of diagnostic case studies;
- critical analysis of scientific articles and guidelines;
- short presentations prepared and delivered by students.
During case-based activities, students will be asked to select the most appropriate molecular method for a specific diagnostic question, considering its analytical performance, clinical relevance, advantages and limitations.
Students will also analyse the information required for the interpretation and reporting of molecular diagnostic results.
Verifica Apprendimento
The assessment consists of an oral examination.
Students are asked to prepare two topics of their choice from those covered during the course: one from the genetics/genomics section and one from the epigenetics section.
Starting from these topics, the lecturers may ask additional questions, including questions requiring connections with other parts of the course, in order to assess the student’s overall preparation.
The assessment will consider:
- knowledge and understanding of the selected topics;
- ability to connect different course contents;
- critical reasoning and appropriate application of concepts;
- clarity of presentation;
- correct use of scientific terminology.
The final grade is expressed on a scale of 30. The examination is passed with a minimum grade of 18/30.
Students are asked to prepare two topics of their choice from those covered during the course: one from the genetics/genomics section and one from the epigenetics section.
Starting from these topics, the lecturers may ask additional questions, including questions requiring connections with other parts of the course, in order to assess the student’s overall preparation.
The assessment will consider:
- knowledge and understanding of the selected topics;
- ability to connect different course contents;
- critical reasoning and appropriate application of concepts;
- clarity of presentation;
- correct use of scientific terminology.
The final grade is expressed on a scale of 30. The examination is passed with a minimum grade of 18/30.
Contenuti
The course will cover the following main topics:
- fields of application of molecular diagnostics;
- organization, accreditation, certification and quality management of molecular diagnostics laboratories;
- analytical and clinical validation of molecular tests;
- reporting and ethical aspects of molecular diagnostics;
- genome organization and genetic variation;
- DNA methylation and epigenetic alterations;
- PCR-based methods;
- mutation detection and screening;
- sequencing technologies;
- genotyping;
- gene expression analysis;
- molecular detection of infectious agents;
- molecular cytogenetics;
- non-invasive prenatal testing;
- analysis of DNA methylation;
- interpretation of diagnostic case studies and scientific literature.
- fields of application of molecular diagnostics;
- organization, accreditation, certification and quality management of molecular diagnostics laboratories;
- analytical and clinical validation of molecular tests;
- reporting and ethical aspects of molecular diagnostics;
- genome organization and genetic variation;
- DNA methylation and epigenetic alterations;
- PCR-based methods;
- mutation detection and screening;
- sequencing technologies;
- genotyping;
- gene expression analysis;
- molecular detection of infectious agents;
- molecular cytogenetics;
- non-invasive prenatal testing;
- analysis of DNA methylation;
- interpretation of diagnostic case studies and scientific literature.
Lingua Insegnamento
INGLESE
Altre informazioni
The lecturers are available for clarification and individual meetings by appointment. Requests should be sent using the student’s institutional email address.
Contact details:
- c.kilstrup-nielsen@uninsubria.it
- paola.campomenosi@uninsubria.it
As molecular diagnostics is a rapidly evolving field, no specific textbook is recommended. The PowerPoint slides used during lectures will be made available in PDF format, together with selected scientific articles, guidelines and other supporting materials.
Contact details:
- c.kilstrup-nielsen@uninsubria.it
- paola.campomenosi@uninsubria.it
As molecular diagnostics is a rapidly evolving field, no specific textbook is recommended. The PowerPoint slides used during lectures will be made available in PDF format, together with selected scientific articles, guidelines and other supporting materials.
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