Learning objectives
MEDICAl GENETICS
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
Correctly communicate the problem 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
GENERAL PATHOLOGY
The objectives of the General Pathology course are to enable the acquisition of knowledge and understand the 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 understand the etiology and pathogenesis and to acquire useful skills for future employment.
Prerequisites
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Course unit content
MEDICAL GENETICS
The first part of this course focuses on mechanisms of genetic character inheritance, starting from the seminal experiments of Mendel and Morgan, their physical basis (chromosomal theory of inheritance), and their extension to 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, how it works and how its work is regulated, and 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 their applications.
MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
The course aims to provide 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.
GENERAL PATHOLOGY
General alteration of growth and death, cellular and molecular oncology with particular emphasis on tumour diagnosis in the laboratory practice. Physiopathology
Full programme
MEDICAL GENETIC
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 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.
GENERAL PATHOLOGY
Cellular alterations of growth and differentiation. Necrosis and apoptosis.
Oncology
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, trombosis, angina and myocardial infarction. Diabetes mellitus.
Physiopathology of respiratory apparatus and gastroenteric system.
Bibliography
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
Parola M. “Patologia Generale” EDISES
Pontieri G.M. “Elementi di Patologia Generale” III edizione PICCIN
Pontieri G.M. Patologia generale e fisiopatologia generale III edizione PICCIN
Teaching methods
MEDICAl GENETICS
Lectures and one-time visits to a diagnostic laboratory.
MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
Lectures supplemented by attendance in the laboratory, to train the student to the application of the learned concepts.
GENERAL PATHOLOGY
The topics in the program will be presented and discussed through lectures, with the aid of iconographic material, trying to involve the student so that it can be an active part of the lesson.
Assessment methods and criteria
MEDICAl GENETICS
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 at verifying the knowledge and understanding of the content of the course.
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 experience 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.
Other information
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