Learning objectives
Aims of the course is to know:
- the hereditary transmission patterns of monogenic diseases
- the identification of disease genes
- the molecular bases and potential applications of the gene therapy
- the relationship between the patient's genetic component and the response to drugs
- the main applications of DNA analysis in the forensic field
- the main experimental models used in biomedical research
- the genetic tools available for functional analysis of genes in the different model organisms
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
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Course unit content
HUMAN MOLECULAR GENETICS:
-Human karyotype and diseases caused by genomic and chromosomal mutations
-Hereditary patterns of monogenic diseases
-Molecular pathology
-Identification of disease-associated genes
-Oncogenes and Oncosuppressor genes
-Gene and cellular therapy
- Genetic polymorphisms in forensic genetics and pharmacogenetics
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
-Cell cultures, iPSCs (Induced pluripotent stem cells)
Full programme
HUMAN MOLECULAR GENETICS
-Human karyotype and diseases caused by genomic and chromosomal mutations: karyotype and human karyotype, human chromosomes, genomic and chromosomal mutations, polyploidy, aneuploidy, diseases due to changes in the number of chromosomes, structural alterations of chromosomes and their consequences
-Hereditary patterns of monogenic diseases: autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, Y-linked and mitochondrial inheritance, complications in Mendelian inheritance
-Molecular pathology: types of mutant alleles, dominance and recessivity from a molecular point of view
-Identification of disease-associated genes: next generation sequencing, techniques for disease identification, whole exome sequencing, whole genome sequencing
-The two main classes of cancer genes: oncogenes and tumor suppressor genes. Function, type of mutation, activation mechanism
-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.
-Genetic polymorphisms in forensic genetics and pharmacogenetics:
General introduction to the human genome.
Types of variations (genetic, chromosomal, genomic)
-Forensic Genetics: Genetic markers used in forensic science. Methods for the detection of genetic variability. Validity and practicability of the methods used. Determination of sex, origin of the species, individual profile. Paternity, maternity, familiarity test. Interpretation of the results: statistical considerations.
-Pharmacogenetics: Genes involved in pharmacokinetics and pharmacodynamics - polymorphisms in genes that influence the availability of drugs - genetic polymorphisms of receptors - molecular strategies for the optimization of drug therapy
MOLECULAR GENETICS OF IN VIVO AND IN VITRO MODEL SYSTEMS FOR BIOMEDICAL AND BIOTECHNOLOGICAL RESEARCH
-Yeast: Forward e reverse genetics-Comparative genomics in yeasts- S. cerevisiae deletant collection and use of null mutants in functional analysis- Yeast as model organism for the study of mitochondrial genetics and 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: Classical genetic techniques - Transformation and cloning mediated by the P element - Methods for the construction of mutants by reverse genetics: insertional mutagenesis mediated by P elements, excision mutagenesis; functional analysis by RNAi - Role of Drosophila in drug discovery and as a model in 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. Drug discovery in model organisms.
-Cell cultures: primary, stabilized and immortalized cell lines, iPSCs (Induced pluripotent stem cells).
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
The course includes lectures with powerpoint presentations. During some lectures scientific articles concerning the problems addressed will be analyzed and discussed in the class. The teaching material used in the lessons will be provided to the student through the Elly platform. Course enrollment is required to access these online resources
Assessment methods and criteria
The acquired knowledge will be verified with a written exam (two hours) during which the student will have to answer three questions with open answers relating to the topics covered in the course.
The knowledge and understanding of the different topics covered during the lessons and the ability to communicate clearly and with language properties, ideas and concepts will be assessed.
Other information
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