MEDICAL GENETICS
- Overview
- Assessment methods
- Learning objectives
- Contents
- Full programme
- Bibliography
- Teaching methods
- Contacts/Info
It is necessary to have acquired the knowledge of Human Anatomy and Biochemistry
For the MEDICAL GENETICS module, the final assessment is carried out by means of an oral exam on all the topics covered in class. The ability to express the knowledge acquired in a competent and organized manner will be positively assessed; the capacity for critical reasoning on the study carried out and depth of analysis; quality of the exhibition and competence in the use of specialist vocabulary.
The educational objective of the course is to provide students with all the necessary information to understand, from a biophysical-quantitative point of view, the modalities of functioning of the various organs and systems of the organism in normal conditions as well as their control by the nervous system central and autonomous and endocrine system. The course also offers a deep knowledge of the gene and chromosomal mechanisms underlying human pathologies.
EXPECTED LEARNING RESULTS
At the end of the course, the student will be able to:
1. describe the fundamental functional parameters that characterize the genetic assumptions of the functioning of cells, tissues and organs;
2. use biophysical-quantitative tools (equations, graphs) to describe and analyze the processes involved;
3. describe the correlations between structure and genetic aspects involved in the function of organs and systems.
4. describe the mechanisms underlying the coordinated and interactive functioning of several organs and systems
5. analyze the phenomena that lead to possible modifications of the quantitative and functional parameters as the organic conditions vary
6. discuss the topics dealt with clearly and using the appropriate technical language.
7. explain how the changes in the physiological genetic structure entail, for cells, tissues and organs, the onset of pathophysiological conditions of clinical interest.
The MEDICAL GENETICS module will develop the basic knowledge of Formal Genetics starting from the review of the cell cycle, mitosis, meiosis and gametogenesis up to describing the three Mendel's laws and their apparent and real exceptions (Linkage of characters) with related examples and exercises.
The MEDICAL GENETICS module will develop the basic knowledge of Formal Genetics starting from the review of the cell cycle, mitosis, meiosis and gametogenesis up to describing the three Mendel's laws and their apparent and real exceptions (Linkage of characters) with related examples and exercises. We will analyze gene and chromosomal mutations with related examples of genetic pathologies related to them (Down Syndrome, Edwards Syndrome, Patau Syndrome, Sex chromosome related diseases and study of interests, X-Fragile Syndrome, Huntington's Korea, Uniparental disomy , Prader-Willi Syndrome, Angelman Syndrome, Phenylketonuria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Hemophilia, Color Blindness). The structure and morphology of human chromosomes and the normal human karyotype and the techniques used for the preparation and analysis of the human karyotype (classical cytogenetics) will be addressed. Molecular analysis techniques of genetic pathologies (molecular cytogenetics, FISH, aCGH, SNP-array, Sanger sequencing, microsatellite analysis, analysis of circulating free fetal DNA) will be introduced. Then the part relating to the study of family trees in the analysis of human genetic pathologies with related examples and exercises will follow.
For the MEDICAL GENETICS module, the final assessment is carried out by means of an oral exam on all the topics covered in class. The ability to express the knowledge acquired in a competent and organized manner will be positively assessed; the capacity for critical reasoning on the study carried out and depth of analysis; quality of the exhibition and competence in the use of specialist vocabulary.
For the course there will be lectures that will be held with the projection of slides (basically in Italian but, in cases of recently published material, also in English). During the classroom explanation, students are invited to interact with the teacher with questions and curiosities. In the lesson, the teacher will also present daily cases and facts that can make us understand the application / importance of the teaching subjects.
Students are required to attend classes as set out in the study program didactic regulations and to sign the attendance sheet in order to take the exam. The teacher undertakes to make the presentations projected at lessons and other material of interest (scientific articles) available through the University's IT platforms (e.g. e-learning, Teams) to which students have access.
During the course a Teams group will be activated on the Microsoft platform on which the teacher will add the lessons as well as in-depth material. With this platform it will be possible to activate instant meetings to answer questions and doubts in single or group conversations or to request a chat.
The teacher receives the students for further information and clarifications by appointment by writing to the email address roberto.valli@uninsubria.it
Students who have had the validation of the Medical Genetics module are asked to inform the exam commission when they register for the appeals.