MEDICAL GENETICS
- Overview
- Assessment methods
- Learning objectives
- Contents
- Full programme
- Bibliography
- Teaching methods
- Contacts/Info
Basic general biology
Written examination by Elearing platform
The objectives of the Medical Genetics module it to provide to the student the essential knowledge about all the aspects of the medical genetics related to the future profession of the student with particular emphasis to the genic and chromosomal syndromes and the related techniques to detect
The MEDICAL GENETICS module is composed by 12 frontal lessons (24 hours in total). It will focus on the knowledge of the basis of the Medical Genetics starting from the cell cycle, mitosis, meiosis, and gametogenesis till the three Mendel’s laws with the related apparent and real (Linkage) exceptions with some related exercises. It will be analyzed the genic and chromosomal mutations wit related genetic pathologies (Down, Patau, Edwards Syndromes, Sex chromosomes pathologies and intesexes, Fragile-X Syndrome, Huntington’s Corea, Uniparental disomy, Prader-Willi Syndrome, Angelman Syndrome, Phenylchetonuria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Hemophilia, Daltonism). It will be analyzed the structure and morphology of the human chromosomes and the normal human karyotype and the related techniques for the setting-up (Classical Cytogenetic). It will be analyzed the molecular techniques for the detection of the genetic pathologies (Molecular Cytogenetics, FISH, aCGH, SNP-Array, Sanger Sequencing, microsatellites analysis, cell-free-fetal DNA). Following, it will be analyzed the study of the human pedigrees related to human hereditary pathologies with related exercises.
Mitosis and Meiosis
Mendel’s laws
Mendel’s laws exceptions (real and apparent)
Structure of chromatine and chromosome
Human karyotype
Genic and chromosomal mutations: examples and possible implications
Examples of pathologies related to chromosomal mutations
Human pedigrees studies
Medical genetics techniques: cytogenetics, molecula cytogenetics, aCGH, PCR, cffDNA analysis. Examples and applications
Examples od syndromes: Down, Edwards, Patau, sex-chromsomes aneuploidy-related pathologies
Pathologies related to tri-nucleotides repeats
E. S. Tobias, M Connor, M. Ferguson-Smith
Fondamenti di Genetica Medica
Pearson
L. Tiepolo, U. Laudani:
Le basi biologiche dell’ereditarietà
3° ed. Editore La Goliardica Pavese L. Tiepolo, U. Laudani: “Le basi biologiche dell’ereditarietà” - 3° ed. Editore La Goliardica Pavese
The course is composed by frontal lessons (24 hours, with also laboratory experiences), with the help of slides (normally in Italian, but sometimes in English in case of recent publications). During the lessons, students are invited to interact with the professor with questions and curiosities. During the lessons, the professor will present cases and daily facts that could help the teaching of the course. Course attendance is mandatory, as stated by the didactic rules of the degree course, and day-by-day signature will be mandatory to attend to the final exam. The professor will provide the slides and all the didactic material used by the informatic platforms (E-learning website and/or Microsoft Teams group).
During the course, will be activated a Microsoft Teams dedicated group in which all the electronic material will be provided and instant discussion for any doubt could be used by students.
Individual or group-based meeting with the professor are to be fixed directly with the professor by email to: roberto.valli@uninsubria.it.
Students with the validation of the Medical Genetics module must inform the examination commission during the exam subscription