cod. 1001176

Academic year 2021/22
1° year of course - First semester
- Paola GOFFRINI - Tiziana LODI
Academic discipline
Genetica (BIO/18)
Discipline biologiche
Type of training activity
72 hours
of face-to-face activities
9 credits
hub: PARMA
course unit

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 hereditary transmission patterns of monogenic diseases
- the identification of disease genes
- 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.


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Course unit content

1.Molecular genetics of model systems in vivo and in vitro for biomedical and biotechnological research:
-Yeast, Saccharomyces cerevisiae, Caenorhabditis elegans, Clamydomonas reinhardtii, Drosophila melanogaster, Zebra fish, Mouse,
-Cellular cultures, iPSCs (Induced pluripotent stem cells)
2. 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
-Forensic genetic

Full programme

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.
Metabolic engineering in eukaryotic microorganisms: yeast and algae. Transgenesis and production of recombinant proteins in algae.
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.
Drug discovery in model organisms.
Primary cell cultures, stabilized lines, immortalized cells, iPSCs (Induced pluripotent stem cells).

Human karyotype and diseases caused by genomic and chromosomal mutations: preparation of the 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
Pharmacogenetics: Genes involved in pharmacokinetics and pharmacodynamics - polymorphisms in genes influencing 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.


-Philip Meneely- Analisi Genetica Avanzata
ED. McGraw-Hill

-T. Strachan, A.P.Read-
Genetica molecolare umana

-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 and some seminars on specific topics of the program. 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. Furthermore, the student will be asked to comment on a figure from a scientific article that will be provided during the test.
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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