OVERVIEW

The course of Molecular Pathology deals with the study of specific molecular alterations which lead to disease.

AIMS AND CONTENT

LEARNING OUTCOMES

In-depth knowledge about inheritance as it occurs in human beings, and comprehension of the main molecular and cellular mechanisms related to the pathogenesis of inherited and acquired diseases.

AIMS AND LEARNING OUTCOMES

The Course aims to provide students with the fundamental elements about the pathways through which molecular alterations, either inherited or acquired, can lead to disease.

At the end of the course the student should be able to: remember the main molecular alterations object of the course; understand how specific molecular alterations lead to changes in cellular functions and/or organ/organism pathophysiology; acquire a basic nomenclature in molecular pathology; critically analyze the issues they are asked during the examination, in the field of the program presented during the course.

TEACHING METHODS

The course is organized in frontal lessons held in English. The topics included in the syllabus will be explained by the professor through PowerPoint presentations. Students will be triggered to ask questions and formulate answers in interactive modality. At the end of the course lessons will be organized where students will discuss with the professors one scientific paper related to the syllabus. In addition, students will attend a few laboratories in which they will become familiar with methodologies related to Molecular Pathology.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liaise and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

SYLLABUS/CONTENT

Molecular mechanisms of cell death and of the immune system:

Overview of inflammation and inflammatory cytokines

Molecular pathology of blood cells:

- Qualitative and quantitative molecular defects of innate immunity.

- Autoinflammatory disorders

- Cytotoxicity defects.

- Molecular defects of erythrocytes: hemolytic anemia, defects of erythrocyte cell membrane, enzymatic defects, hemoglobin defects

- Primary Immunodeficiencies of adaptive system. Severe Combined Immunodeficiencies: SCIDs

- Mechanisms of tolerance. Autoimmune diseases.

- Type I diabetes, multiple sclerosis, systemic lupus erythematosus

- Solid organ transplantation

- Hematopoietic Stem Cell Transplantation (HSCT)

Laboratory experiences:

- Flow cytometry assays for the diagnosis of innate immunity defects - Analysis of flow cytometry data

- Laboratory tests for cytotoxicity defects

 - Mass spectrometry - Analysis of proteomic data

 - Methods for identification and characterization of Treg cells  

 - Management of a Stem Cell Unit Bank activity

RECOMMENDED READING/BIBLIOGRAPHY

Lecture notes and reviews covering the whole course will be available for the students in Aulaweb.

The following reference textbooks are recommended:

Kumar, Abbas, Aster - Robbins Basic Pathology, Elsevier.

Rubin, Strayer - Rubin’s Pathology: Clinicopathologic Foundations of Medicine, Wolters Kluwer.

Jameson, Fauci, Kasper - Harrison's Principles of Internal Medicine, McGraw-Hill Education.

Abbas A.K., Lichtman A.H., Pillai S. - Cellular and Molecular Immunology, Elsevier.

Parham P. - The Immune System, Garland Science.

TEACHERS AND EXAM BOARD

LESSONS

LESSONS START

II semester, March 2025.

Class schedule

MOLECULAR PATHOLOGY AND LABORATORY

EXAMS

EXAM DESCRIPTION

The exam is carried out in English and consists of an oral test lasting about 30 minutes and takes place in the presence of the two professors. The student should demonstrate the ability to critically discuss all the subjects covered in the questions. Through the discussion of different topics, the professors verify the fulfillment of the expected learning outcomes.

At the end of the oral examination the professors elaborate a mark deriving from the weighted mean of the partial marks, from the oral presentations of the paper and from an overall evaluation of the student.

ASSESSMENT METHODS

Each student will be examined about the contents of at least two topics of the syllabus, with questions apt to evaluate his/her knowledge and ability of connecting different parts of the course. In addition, the ability to explain how molecular alterations affect functionality of cells and organs will be assessed, as well as the proper usage of scientific terms.The knowledge and the definition of the basic elements of the subject are necessary for the achievement of the test.

Proficiency in English language will not be evaluated, but it must be sufficient to show the students’ knowledge of the subjects, with an adequate level of linguistic expertise, especially in scientific language.

Exam schedule