OVERVIEW

The integrated Course is divided in two modules: Human Genetics and Molecular Pathology. The Human Genetics Module provides the student with tools and knowledge useful to interpret the simple Mendelian and the complex inheritance of different genetic diseases. The Molecular Pathology Module 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 of Molecular Pathology aims to provide the students with the necessary knowledge to recognize how disease can arise from molecular alterations, with a particular focus on alterations of carbohydrates, lipids and proteins.

PREREQUISITES

In order to deal with the contents of the course, students should have a good knowledge in the fields of biochemistry, cellular and molecular biology, human anatomy, histology, physiology, and general pathology.

In addition, a fruitful attendance at lessons of the Course of Human Genetics requires robust basic knowledge already provided during previous course of General Genetics. Such acquisitions will be considered as already gained.

TEACHING METHODS

The course of Molecular Pathology is organized in frontal lessons. 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. During the course lessons may be organized where students will be encouraged to discuss with the professor scientific papers related to the syllabus.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, should contact 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 so that the learning aims and outcomes may be met.

SYLLABUS/CONTENT

•  Human Genetics

During the course, in addition to a thorough treatment of formal human genetics such as the transmission modes of Mendelian characters with relative exceptions, linkage analysis and mapping of both simple and complex characters, the genetics of populations and the effects of genetic isolation and connectedness, the organization of the human genome, the molecular bases of hereditary diseases, the genotype-correlation are also discussedphenotype and recent acquisitions on monoallelic expression in X imprinting and inactivation.

• Molecular Pathology

Molecular pathology of carbohydrates: pathogenesis and complications of diabetes mellitus.

Molecular pathology of lipids: alterations of lipoprotein metabolism.

Molecular pathology of aminoacids: phenylketonuria.

Molecular pathology of blood cells and of the immune system:

1) Genetic defects of innate immunity.

2) Autoinflammatory disorders.

3) Genetic defects leading to autoimmune disorders.

4) Genetic defects of erythrocytes.

5) Genetic defects of platelets and coagulation.

RECOMMENDED READING/BIBLIOGRAPHY

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

TEACHERS AND EXAM BOARD

LESSONS

LESSONS START

II semester, in March.

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The exam is carried out in English.

For the course of Human Genetics students will be able to give three consecutive written tests with genetic problems and open questions. The final evaluation will be achieved by the mean of the three tests as well as on the basis of the presentation of a scientific article that each of them will face with during the semester. A possible oral test will be devoted to those students who want to improve their final score

 For the course of Molecular Pathology, the exam consists of an oral test and takes place in the presence of the two professors. The student should demonstrate the ability to critically discuss some of the subjects covered in the lessons. Through the discussion of different topics, the professors will 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 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 and to verify the fulfillment of the expected lerning outcomes. 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