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 at least one laboratory in which they will become familiar with methodologies related to Molecular Pathology.

The frontal lessons could be carried out remotely in online mode using the Teams platform.

SYLLABUS/CONTENT

Molecular pathology of carbohydrates: pathogenesis and complications of diabetes mellitus. Galattosemia, Lactose intolerance.

Molecular pathology of lipids: alterations of lipoprotein metabolism. Main phenotypic and genotypic alterations linked to dyslipidemias.

Molecular pathology of aminoacids: phenylketonuria, hyperhomocysteinemias.

Molecular pathology of blood cells and of the immune system:

1) Qualitative and quantitative genetic defects of innate immunity.

2) Cytotoxicity defects.

3) Autoinflammatory disorders.

4) Genetic defects leading to autoimmune disorders.

5) Genetic defects of erythrocytes.

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

Exam Board

CLAUDIA CANTONI (President)

FEDERICO ZARA (President)

RENATA BOCCIARDI

ALDAMARIA PULITI

PAOLO SCUDIERI

NICOLA TRAVERSO

CHIARA VITALE

LESSONS

LESSONS START

II semester, March 2022

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.

The exam could be carried out remotely in online mode using the Teams platform.

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