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Biology and Genetics . C.I. (I ANNO)
GIOVANNI PRINCIPATO

Seat Medicina e Chirurgia
A.A. 2017-2018
Credits 9
Hours 90
Period 1^ semestre
Language ENG
U-gov code MU01-09-11 80005

Prerequisites

Basic knowledge of Biology, Physics and Chemistry

Development of the course

Frontal lectures.

Learning outcomes

• Knowledge

At the end of the course the student will be able to:

- know the basic characteristics of living matter, the molecular and functional organization of the prokaryotic and eukaryotic cells, the basic mechanisms underlying cell proliferation and the flow of genetic information, the different types of communications between cells in multi-cellular organisms;                                                                                                                                                  

- know how to segregate monogenic and complex diseases, as well as chromosomal illnesses and mutations that determine them;                             - know the needs of patients in the overall relationship with Medicine, understand the anthropological aspects of human suffering, acquire a narrative methodology in the approach with the patient and attain an attitude of the patient’s care.                                                                                                                                    

• Ability to apply the knowledge

The student will need to be able to apply the notions acquired about the function of the cell and the mechanisms underlying the hereditary diseases. The student must be able to apply the knowledge learned to deal with biomedical problems. The humanistic approach derived from the narrative medicine module allows the student to retrieve the relationship between the subjectivity of the individual and his / her needs in healthcare.

• Soft skills                                                                                                                                                    

         The integrated course of Biology and Genetics provides basic skills that are indispensable elements for access to subsequent studies. Its articulation into three modules allows integration between the biological / genetic scientific aspects and the humanistic aspects. The student will also be aware that he has acquired humanistic skills to cure people who will add to the scientific knowledge that will acquire in the next courses of medical studies and will be needed to treat the disease.

Program

DIDACTIC UNIT “Structure and function of the cell”

Prof. G. Principato

The origins of life. Chemical and biological evolution.

The structure and function of nucleic acids and proteins. Organic lipids and membranes.

General aspects of the eukaryotic and prokaryotic cells. The three categories of living beings, Eubacteria, Archaea and Eukaryotes. Methods of organizing DNA in prokaryotes and eukaryotes. The evolutionary strategy of Eubacteria, role of mutations and horizontal exchanges of DNA. Evolution of the eucaryotic cells. Cambrian period and the appearance of pluricellular organisms. Biological networks, functional modules and "systems biology".

Viruses and their possible role in evolution.

Structure of the nucleus and nuclear pores. Nuclear membrane, structure and function of chromatin, organization and structure of nucleolus. The RNA transcription and maturation processes. The regulation of transcription in Eukaryotes and Prokariotes. The origin and role of small RNAs and long non-coding RNAs.

Ribosome structure and function. The mechanism of protein synthesis. Protein synthesis in cytosol and post-synthetic protein fate. Proteasome and proteins degradation in the cytosol.

Structure and function of the rough endoplasmic reticulum. The smooth endoplasmic reticulum and its role in the detoxification mechanisms. Structure and function of Golgi membranes, secretion and biosynthesis of lysosomes. Biological role of lysosomes.

DNA replication and main DNA repair mechanisms. Cell cycle and control mechanisms.

Structure and function of the cytoskeleton. Mechanism of mitosis, differences between mitosis and meiosis.

Senescence, aging and cancer. Stem cells. The various types of cell death with particular attention to apoptosis and necrosis.

Cell communication mechanisms. Communication by nanovesicles and exosomes. Organic role of exosomes.

Overview of general aspects of metabolism. Mitochondrial structure and function. Mitochondria and cellular respiration.

Reproduction of living organisms. The molecular mechanisms behind the formation of gametes. Sex and evolution.

 

DIDACTIC UNIT “Genes, heredity and mutations”

Dott. F. Piva                                     

Basis of inheritance: principles of Mendelian inheritance, dominant and recessive traits, homozygous or heterozygous genotype; familial, congenital, genetic, hereditary character; Genetic mechanisms of sex determination, characters linked to X and Y chromosomes.

Extension of Mendelian genetics: interactions between alleles; interaction between genes and modified mendelian ratios; epistasis; polygenic inheritance and pleiotropy; penetrance and expressivity; allelic and locus heterogeneity; cytoplasmic inheritance. Effects of the environment on the phenotype.

The genome organization: the structure of human genes; gene families, duplication, divergence.

Linkage, recombination and gene mapping: associated genes and segregation, mapping methods of genes that cause disease.

Analysis of genealogical trees: autosomal recessive and dominant characters, study of twins in order to quantify the effect of genes and environment.

Variability in chromosome: normal karyotype, banding, chromosomal rearrangements, aneuploidy and polyploidy.

Regulation of gene expression in eukaryotes: transcription factors, RNA interference.

Epigenetic regulation of gene expression: DNA methylation, chromatin structure, genomic imprinting, environment.

Gene mutations: types of mutations, polymorphisms, phenotypic effects, mutation rates; causes of mutations, random errors, chemical and physical mutagens. Repeat expansion diseases. Repair mechanisms.

Development genetics: cloning, polarity genes, segmentation, homeotic, programmed cell death, immunity development by genetic rearrangement.

Population genetics: Hardy-Weinberg equilibrium; modifying forces, natural and artificial selection, genetic drift, inbreeding, heterosis.

Quantitative genetics: the nature of quantitative traits; inheritance of multifactorial traits.

Cancer genetics: oncogenes and suppressor genes, cell cycle control; genes p53, BRCA, KRas, Rb, VEGF; outline of Hedgehog, Notch, Wnt, mTOR pathways.

Diagnosis and prevention of hereditary diseases, gene therapy.

 

DIDACTIC UNIT “Narrative medicine”

Dott. M. Marinelli The birth of Narrative Medicine, narration-based medicine. The practice of caring; do the doctor and be and feel a doctor. From anthropological aspects of suffering to patient understanding; Rita Charon's Narrative Medicine.

Narrative Approach in Patient Medical Relationship: Reception, Listening, Communication, Building a Therapeutic Alliance. Nursing-based medicine in the diagnostic-therapeutic and relief process.

Development of the examination

• Methods for assessing learning outcomes:

The successful learning is evaluated through the final exam, which is oral and in contextual form for the three modules of the integrated course.

• Criteria for assessing learning outcomes: 

The student's assessment is based on the proven ability to adequately know the contents of all three modules, on the demonstration of critical sense and ability to reason and synthesize the knowledge.

• Criteria for measuring learning outcomes:

The final vote is given in thirtieths; the examination will be exceeded when the vote is greater than or equal to 18 in the oral trials of the three modules. It is foreseen to award the highest mark as 30/30 cum laude.

• Criteria for conferring final mark:

The final vote is the standardized average for the number of credits in each form, rounded up by excess. The notation “cum laude” can be given when the student demonstrates full mastery of the subject, in relation to all three modules of the oral exam.

Recommended reading

DIDACTIC UNIT “Structure and function of the cell” - Prof. Giovanni Principato 

•        Title: Molecole, Cellule e Organismi;  Author/s: coordinated by E. Ginelli e M. Malcovati; Editor: Edises, 2016

DIDACTIC UNIT “Genes, heredity and mutazions” - Dott. Francesco Piva 

•        Title: Genetica; Author: Benjamin A. Pierce; Editor: Zanichelli, 2016

DIDACTIC UNIT “Narrative Medicine” - Dott. Massimiliano Marinelli 

•        Title: Trattare le malattie, curare le persone; Author: M. Marinelli; Editor: Franco Angeli, 2015

•        Title: Persone che curano; Author: M. Marinelli; Editor: Aracne, 2017 (in press)

•        Title: ll fragile e il prezioso. Bioetica in punta di piedi; Author: L. Alici; Editor: Morcelliana, 2016

 

PROFESSOR CONTACT:

- Giovanni Principato: tel 0712204641 - email g.b.principato@univpm.it – ufficio: Palazzina Scienze 3, Via Brecce Bianche, Polo didattico di Monte d’Ago, Ancona

- Francesco Piva: tel 0712204683 - email f.piva@univpm.it – ufficio: Palazzina Scienze 3, Via Brecce Bianche, Polo didattico di Monte d’Ago, Ancona 

- Massimiliano Marinelli: tel 337631280 - email postamarinelli@gmail.com  

 

OFFICE HOURS: by appointment

Courses

• Medicina e Chirurgia