Computational Molecular Diagnostics

Module Tools and models for Molecular Biomarkers extraction

Course Objective
The objective of the course is to provide students with skills in the field of Clinical Molecular Diagnostics, aiming to give them a solid understanding of the mechanisms underlying pathological processes, with a particular focus on key phenomena such as inflammation, oncogenesis, and laboratory medicine. Students will acquire in-depth knowledge of the biomarkers underlying major oncological, oncohematological, and non-oncological diseases, developing a comprehensive perspective on disease pathogenesis and its application to laboratory medicine.

Knowledge and Understanding
By the end of the course, students will have acquired a basic knowledge of general and clinical pathology and an in-depth understanding of the biomarkers underlying major oncological, oncohematological, and non-oncological diseases (including anemia, thalassemia, cystic fibrosis, and cardiovascular diseases).

Applying Knowledge and Understanding
Once students have acquired knowledge of the main pathological and laboratory medicine biomarkers, they will be able to identify which biomarkers to use in applying bioinformatics for personalized therapy.

Making Judgements
Through practical exercises, students will be able to independently apply, evaluate, and identify the different biomarkers to be used in bioinformatics applications.

Communication Skills
Students will acquire the necessary communication skills related to the main biomarkers of molecular pathology and laboratory medicine.

Learning Skills
The course aims to provide students with a solid foundation in general and clinical pathology, integrated with knowledge of biomarkers, to develop a more suitable technological approach within the framework of precision medicine.

Final Goal
The course seeks to train professionals with integrated expertise in general pathology, clinical pathology, and laboratory medicine, combined with a solid understanding of biomarkers, so that they are able to apply advanced bioinformatics technologies to improve the understanding of diseases and contribute to the development of innovative and personalized therapeutic solutions in their field of expertise.

The course is organized into theoretical lectures complemented by practical sessions, designed to foster active discussion between lecturer and students on recent scientific articles. The course is structured into several modules covering the mechanisms underlying pathological processes, the processes of oncogenesis in benign and malignant tumors, and the main markers and biomarkers associated with major oncological diseases, hereditary-familial syndromes, oncohematological diseases, immunotherapy-related diseases, and non-oncological conditions such as anemia and thalassemia, cystic fibrosis, and cardiovascular diseases.

In addition, the course will explore in depth the concepts of receptors, which may serve as targets in personalized therapies, and will illustrate all types of biological samples used to investigate the above-mentioned diseases, including those employed in liquid biopsy.

Attendance at the courses is not mandatory but is strongly recommended.

1. Concept of homeostasis and disease

2. Cellular adaptations: hypertrophy, hyperplasia, atrophy, metaplasia

3. Cellular pathology: cell injury, necrosis, apoptosis

4. Genetic pathology: concept of gene alteration and mutation

5. Inflammation: classification; types of exudate; chemical mediators of inflammation

6. Cellular and molecular basis of tumors

7. Tumor oncogenesis

8. Biological samples and their management in laboratory medicine

9. Main laboratory biomarkers of tumors

10. Main biomarkers in hereditary-familial syndromes

11. Main laboratory biomarkers of onco - hematological diseases

12. Main biomarkers of immunotherapy-related syndromes

13. Laboratory medicine in hematological diseases such as anemia, thalassemia, and cystic fibrosis

14. Main laboratory biomarkers in cardiovascular diseases

1. Pontieri G.M. Elementi di Patologia Generale. Piccin

2. Ciaccio M. - Lippi G. Biochimica clinica e Medicina di Laboratorio. EdiSES

3. PDF flyers

The test consists of an interview in which 2-3 questions will be asked that deal with at least 2-3 different topics of the program. The test allows to verify: i) the level of knowledge of the program topics; ii) the ability to apply this knowledge in dealing with specific clinical situations; iii) clarity of presentation; iv) the property of medical-scientific language.

For the attribution of the final grade, the following parameters will be taken into account:

 Grade 29-30 with honors: the student has a thorough knowledge of the required topics, is able to promptly and correctly integrate and critically analyze the situations presented, autonomously solving even highly complex problems; has excellent communication skills and masters medical-scientific language.

Grade 26-28: the student has a good knowledge of the required topics, is able to integrate and analyze the situations presented in a critical and linear way, is able to solve complex problems independently and presents the arguments clearly using medical language. appropriate scientific;

Grade 22-25: the student has a fair knowledge of the required topics, even if limited to the main topics; she succeeds in integrating and analyzing in a critical but not always linear way the situations presented and she exposes the arguments quite clearly with a discrete property of language;

Grade 18-21: the student has the minimum knowledge of the required topics, has a modest ability to integrate and critically analyze the situations presented and presents the topics in a sufficiently clear way although the language properties are not very developed;

Failed exam: the student does not have the minimum required knowledge of the main teaching contents. The ability to use language specific is very little or zero and is unable to independently apply the knowledge acquired.

The final grade is given by the weighted average of the marks obtained in the 3 modules.

To take the final exam, you must have booked on the SmartEdu portal. For any technical issues regarding your booking, please contact the Academic Office.

Sample Questions:

• Tell me about inflammation

• What is a tumor marker?

• What are gene mutations or alterations?

• Biomarkers of oncohematological tumors

Please note that these questions are purely indicative: the actual questions asked during the exam may differ, even significantly, from those listed here.