cod. 1007373

Academic year 2022/23
2° year of course - First semester
Professor responsible for the course unit
integrated course unit
9 credits
hub: PARMA
course unit

Course unit structured in the following modules:

Learning objectives

General pathology
The objectives of the General Pathology course are to enable the acquisition of knowledge and understanding about etiopathogenetic mechanisms of human diseases with their related essential notions of semeiotic and medical terminology. Great emphasis will be given to pathology, oncology, and physio-pathology in order to allow the student to apply the knowledge gained to understanding the etiology and pathogenesis and to acquire useful skills for future employment.

This course is for the knowledge and comprehension of mechanisms of genetic character inheritance and their future specific professional application.
At the end of this course the student should have a good knowledge and comprehension of the following topics:
The mechanisms of transmission of mendelian traits and the relative physical and molecular basis
The mechanisms of transmission of quantitative characters of common traits and the gene-environment interaction
The mechanisms of the more frequent chromosomal mutations
The mechanisms of the more frequent molecular diseases
Once acquired this background, the student should be able to perform the following activities:
Identify a genetic problem in a professional environment
Communicate the problem in a correct way with the correct words
Collaborate with other medical competencies involved in diagnosis and therapy.

Medical genetics diagnostic techniques
After completing the course the student will be able to know and understand:
- The kinetic mechanisms of nucleic acids as a general basis of molecular diagnostics
- The methods of investigation of the human genome
- The choice of the method to use in relation to the diagnostic needs
By applying this knowledge critically acquired, the student will be able to:
- Use the most common molecular analysis methods
- Use basic bioinformatic programs with open access
- Critically evaluate the options when choosing a method of investigation
- Set up a working protocol


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Course unit content

General pathology
General alteration of growth and death, cellular and molecular oncology with particular emphasis on tumour diagnosis in the laboratory practice. Physiopathology.

The first part of this course focuses on genetic character inheritance mechanisms, starting from Mendel and Morgan's seminal experiments, their physical basis (chromosomal theory of inheritance), and their extension to the man. Single gene inheritance and multifactorial inheritance of common characters are considered.
The second part of the course is on the definition of what a gene is and how it works and how its work is regulated, on applications of genetics to medicine, in particular to diagnostic methods applied to risk calculation. Finally, the students are introduced to the more recent methods in molecular genetics and to their applications.

Medical genetics diagnostic techniques
The course aims to provide the knowledge of the main techniques used in the diagnosis of genetic diseases, in order to understand their potential in applications in the field of medical genetics.

Full programme

General pathology
Cellular alterations of growth and differentiation. Necrosis and apoptosis.
Definition, nomenclature, and biological properties of benign and malignant neoplasms. Molecular basis of cancer. Protooncogenes, oncogenes. Tumor suppressor genes. Diagnosis and biological basis of anti-neoplastic therapies.
Transmission patterns of single-gene disorders (Familial hypercholesterolemia, cystic fibrosis, sickle cell disease).
Atherosclerosis, thrombosis, angina, and myocardial infarction. Diabetes mellitus.
Physiopathology of respiratory apparatus and gastroenteric system.

The genetic bases of human diseases
Mendel Laws of inheritance and their applications
The human chromosomes and their numerical and structural abnormalities
The structure of the human genome
DNA mutations: classification, main features, and effects
Applications of formal genetics to the human diseases.

Medical genetics diagnostic techniques
Molecular analysis of nucleic acids. Extraction of nucleic acids. Electrophoresis of nucleic acids. Nucleic acid hybridization. Blotting. PCR: the principle of the method and its applications. Real Time PCR and its applications. High Resolution Melting (HRM). Methods to search known mutations in the DNA (RFLP, ASO, ARMS, OLA, etc.). Methods for the detection of unknown mutations in the DNA. Traditional sequencing, pyrosequencing and next-generation sequencing (NGS).
Molecular cytogenetics: FISH, array-CGH, SNP-array.


Parola M. “Patologia Generale ed elementi di fisiopatologia” EDISES
Pontieri G.M. “Patologia generale e fisiopatologia generale” III edizione PICCIN
Lakhani S. “Le basi della patologia generale” CEA editrice

Novelli G - Giardina E : Genetica medica pratica, Aracne editrice, Roma

G. Neri, M. Genuardi. Genetica umana e medica. Ed. Masson.
Material provided by the teacher.

Teaching methods

Lectures will be held on-site in compliance with safety standards, provided that further instructions on the ongoing health emergency are not implemented. Supporting material will be available on the specific, student-reserved platform (Elly) and will include slide presentations, audio-video aids, or video-recording of the lectures.
The teacher is available for clarifications on lessons by appointment (agreed by e-mail) in the office or at a distance via Teams, or through chat on the Elly portal of the course.

Medical genetics diagnostic techniques
Lectures supplemented by attendance in the laboratory, to train the student to the application of the learned concepts.

Assessment methods and criteria

General pathology
Learning outcomes will be verified through an oral examination. Questions on the topics relating to the course will be used to test the knowledge and understanding of the student in the discipline, and her/his ability to apply such knowledge and understanding in occupational contexts. Using the knowledge also acquired in other courses the student must demonstrate knowledge and understanding about the etiology and pathogenesis of the main human diseases.

Multiple choices questionnaires plus open questions.

Medical genetics diagnostic techniques
The examination includes the assessment of the achievement of the objectives of the course through an oral examination with questions aimed to verify the knowledge and understanding of the content of the course.

Other information

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