Learning objectives
Aims of the course is to know:
-the genetic tools available for functional analysis of genes in different model organisms;
-the main in vitro experimental models used in biomedical research:
-the relationship between the patient's genetic component and the response to drugs;
-the molecular bases and potential applications of the gene therapy;
-the main applications of DNA analysis in the forensic field.
To understand how the integration of the different experimental models in vivo and in vitro is able to give specific answers to the different biological problems.
To acquire the ability to develop and apply experimental strategies for the resolution of problems of genetics and cell biotechnology.
Prerequisites
None
Course unit content
1.Molecular genetics of model systems in vivo and in vitro for biomedical and biotechnological research:
-Yeast, Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, Zebra fish, Mouse, Plants
-cellular cultures, iPSCs (Induced pluripotent stem cells), cyibrids
2. Human molecular genetics:
-Pharmacogenetics
-Gene therapy
-Forensic genetics
Full programme
MOLECULAR GENETICS OF MODEL ORGANISMS
YEAST: Forward e reverse genetics-Comparative genomics in yeasts- S. cerevisiae deletant collection and use of null mutants in functional analysis- Methods for gene interaction studies applied to human diseases - Yest as model organism for the study of mitochondrial genetics- Yeast as model organism for the study of mitochondrial diseases.
C.elegans: Forward e reverse genetics in C. elegans. Functional analysis by RNAi - C. elegans as model organism for the study of human pathologies.
Drosophila melanogaster: Forward e reverse genetics in D. melanogaster. - D. melanogaster as model organism for the study of human pathologies.
Zebra fish: Forward e reverse genetics in Zebra fish. Morpholino tecnique. Knok out of genes by Zn finger nucleases, TALENs and CRISPRs-Cas9. Zebra fish as model organism for the study of human pathologies.
Mouse: Transgenesis.Transgenesis in staminal cells. Knok-out and knok-in of genes.
PLANTS: Gene silencing. RNA interference in plants.MicroRNA
Drug discovery in model organisms.
Cell cultures. iPSCs (Induced pluripotent stem cells). Cybrids
HUMAN MOLECULAR GENETICS
PHARMACOGENETICS: Genes involved in pharmacokinetics and pharmacodynamics - polymorphisms in genes influening drug availability - genetic polymorphisms of receptors and repair systems - molecular strategies for the optimization of drug therapy.
GENE AND CELL THERAPY: Different strategies for gene therapy - Nucleic acids with therapeutic function - Methods for gene transfer: viral and non-viral systems - Importance of disease models - Examples of clinical trials of ex vivo and in vivo gene therapy - Cells stem and cell therapy - The ethics of gene therapy in humans. - The ethics of gene therapy in humans.
FORENSIC GENETICS: Genetic markers used in forensic sciences. Methods for detecting genetic variability. Validity and feasibility of the methods used. Determination of sex, origin of the species, individual profile. Paternity test, motherhood, familiarity. Interpretation of results: statistical considerations.
Bibliography
Philip Meneely
Analisi Genetica Avanzata
ED. McGraw-Hill
T. Strachan, A.P.Read
Genetica molecolare umana
Zanichelli
M.Giacca
Terapia genica
Springer Biomed 2014
Ricci, Previderè, Fattorini, Corradi
La prova del DNA per la ricerca della verità
Giuffrè Ed
Original papers suggested by the teacher.
Teaching methods
Frontal lectures and in streaming mode
Assessment methods and criteria
Final oral examination, consisting in the critical reading and presentation of a recent article concerning one of the topics covered during the lessons. The test will consist of a ppt presentation and discussion, in which the student must demonstrate a good comprehension of the scientific problem, understanding of the experiments carried out, the results obtained and their interpretation. This type of examination will allow to evaluate the understanding of the topics covered, the ability to apply knowledge to specific problems, the ability to connect the various concepts acquired throughout the course and to give a critical judgment and also the ability to communicate and expose the knowledge learned.
The exam will be done online in case of COVID emergency.
Other information
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2030 agenda goals for sustainable development
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