Teaching code

4S000166

Credits

6

Coordinator

Elisabetta Trabetti

Language

Italian

Moodle Seminars 0

The teaching is organized as follows:

Learning outcomes

The course aims to provide the basic knowledge of biochemistry, cell biology, human and medical genetics, necessary for learning the most advanced topics that will be treated in the following years of the three-year course. The course plans to provide: - basic knowledge of general and organic chemistry preparatory to biochemistry - knowledge of the structure-function relationships of the main classes of biological macromolecules and metabolic regulation at the molecular level - knowledge of the interconnections existing between the different biochemical processes and the energy transformations connected to them - knowledge of the structural, functional and molecular characteristics of living organisms, in an evolutionary view - knowledge of the fundamental concepts of genetics and the transmission of hereditary traits in man - knowledge to build a family tree - knowledge of various types of Mendelian inheritance and on the genetic risks of recurrence of Mendelian and multifactorial diseases - knowledge to derive the frequency of the disease gene from the frequency of patients in a population. - knowledge of the general characteristics of a normal and pathological human karyotype - knowledge of the medical, ethical and social problems of genetic counseling and prenatal diagnostics At the end of the course the student must demonstrate that he has acquired the knowledge useful for a critical analysis of biochemical processes vital so as to achieve autonomy of critical and The course aims to provide the basic knowledge of biochemistry, cell biology, human and medical genetics, necessary for learning the most advanced topics that will be treated in the following years of the three-year course. The course plans to provide: - basic knowledge of general and organic chemistry preparatory to biochemistry - knowledge of the structure-function relationships of the main classes of biological macromolecules and metabolic regulation at the molecular level - knowledge of the interconnections existing between the different biochemical processes and the energy transformations connected to them - knowledge of the structural, functional and molecular characteristics of living organisms, in an evolutionary view - knowledge of the fundamental concepts of genetics and the transmission of hereditary traits in man - knowledge to build a family tree - knowledge of various types of Mendelian inheritance and on the genetic risks of recurrence of Mendelian and multifactorial diseases - knowledge to derive the frequency of the disease gene from the frequency of patients in a population. - knowledge of the general characteristics of a normal and pathological human karyotype - knowledge of the medical, ethical and social problems of genetic counseling and prenatal diagnostics At the end of the course the student must demonstrate that he has acquired the knowledge useful for a critical analysis of biochemical processes vital so as to achieve autonomy of critical and global evaluation of the processes themselves. Furthermore he will have to demonstrate that he has acquired the basic knowledge of the mechanisms that regulate intra- and inter-cellular interactions, between organisms and the environment, which regulate cellular reproduction and which are the basis of mutations. He will also have to demonstrate that he has acquired the knowledge on the mechanisms of transmission of hereditary characters, of knowing how to construct a family tree, of distinguishing a human karyotype from the pathological and of knowing the genetic risks of recurrence. The student must also demonstrate that he has acquired the ability to present his arguments in a critical, precise manner and with appropriate scientific language. BIOCHEMISTRY MODULE Educational objectives: The course aims to provide: - basic knowledge of general and organic chemistry preparatory to biochemistry. - knowledge on the structure-function relationships of the main classes of biological macromolecules and on metabolic regulation at the molecular level. - knowledge on the interconnections existing between the different biochemical processes and the energy transformations connected to them. At the end of the course the student / student must demonstrate to have acquired terminologies and notions useful for a critical analysis of the vital biochemical processes in order to achieve autonomy of critical and global evaluation of the processes themselves. APPLIED BIOLOGY MODULE Training objectives: The course aims to: - provide basic knowledge on the structural, functional and molecular characteristics of living organisms, in an evolutionary view - describe the fundamental concepts of genetics and transmission of hereditary traits in humans, with specific examples of genetic diseases. The course therefore aims to provide the student with the basic knowledge of human biology, in particular the mechanisms that regulate intra- and inter-cellular interactions, between organisms and the environment, which regulate cell reproduction and are the basis of mutations. The student must also demonstrate to have acquired the knowledge on the transmission mechanisms of hereditary characters with particular reference to the pathological characters in humans. The student must also demonstrate that he has acquired the ability to present his arguments in a critical, precise manner and with appropriate scientific language. MEDICAL GENETICS MODULE Training objectives: The course aims to provide the basic knowledge of human and medical genetics, in order to understand the principles of transmission of normal and pathological hereditary traits and the modalities of the onset of hereditary biological variation. At the end of the course the student must be able to: - build a family tree - distinguish the various types of Mendelian inheritance - know the genetic risks of recurrence of Mendelian and multifactorial diseases - knowing how to derive the frequency of the disease gene from the frequency of patients a population. - to know the general characteristics of a normal and pathological human karyotype - to know the medical, ethical and social problems of genetic counseling and prenatal diagnosis

Program

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MM: BIOCHIMICA
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- Building blocks of general and organic chemistry: the carbon atom; electronic configuration; organic compounds nomenclature and functional groups. - Protein structure and function: structure and physico-chemical properties of amino acids; peptide bond; protein structure levels; fibrous proteins; globular proteins; hemoglobin and myoglobin; actin; myosin. - Enzymes: classification; activation energy; coenzymes and cofactors; water-soluble vitamins; regulation of enzymatic activity. - Nucleic acids: basic notions of their structural functions; their role as energy carriers, as components of enzymatic cofactors, and as chemical messengers. - Introduction to metabolism: anabolism and catabolism; ATP; redox coenzymes (NAD and FAD); chemical equilibrium and Le Chatelier principle; equilibrium constant; Gibbs free energy; exo- and endo-ergonic reactions; equilibria and spontaneity of reactions; metabolic pathways; metabolic intermediates; metabolism regulation. - Carbohydrates: monosaccharides; disaccharides; polysaccharides; glycogen; starch; cellulose; glycosaminoglycans; proteoglycans and glycoproteins. - Carbohydrate metabolism: glycolysis and its regulation; alcoholic fermentation; lactic fermentation; phosphate pentose pathway; gluconeogenesis; glycogenosynthesis; glycogenolysis; hormonal regulation (glucagon, insulin and adrenaline); Cori cycle. - Citric acid cycle and oxidative phosphorylation: regulation of the citric acid cycle; electron transport chain; oxidative phosphorylation. - Lipids: reserve lipids; structural membrane lipids; cholesterol; lipids as signals and cofactors. - Lipid metabolism: lipid biosynthesis; fatty-acid synthase; cholesterol metabolism; beta-oxidation of fatty acids; cheotnic bodies. - Amino acid metabolism: metabolic fate of amino groups; urea cycle; glucose-alanine cycle; transamination.
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MM: BIOLOGIA APPLICATA
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• Characteristics of the living beings, their hierarchical organization and classification into Kingdoms and Domains. Origin of life on earth and cell theory. • The properties of water. Comparison between prokaryotic and eukaryotic cell and viral agents. The endosymbiotic theory, the evolution from prokaryotes to eukaryotes up to multicellular organisms. Darwinian concept of evolution, neo-Darwinism and scientific evidence of the continuity of life on earth. • Main structural and functional characteristics of the cell, organelles and cytoskeleton, with particular attention to the roles of the different cell compartments and their interconnections. • Biological membranes: structure and proposed models; passage of materials across cell membranes: passive transport (facilitated diffusion and simple), osmosis, directly and indirectly active transport, co-transport. Exocytosis and endocytosis. Anchoring, tight and gap cell junctions in animal and plant cells. • Cell communication: types of cellular communication: endocrine, paracrine, autocrine and iuxtacrine. Different ligand molecules and receptors. Signal amplification and second messengers. Sending and receiving the signal, cellular response. • Organization of DNA in chromosomes, mitosis and meiosis. DNA and proteins, nucleosomes, heterochromatin, euchromatin, chromosome condensation. The cell cycle and its regulation. Mitosis, meiosis and sexual reproduction • DNA and its role in heredity. DNA structure and replication. • Gene expression: transcription, genetic code and translation. Gene definition. • DNA mutations and mutagenesis • Hereditary character transmission and Mendel’s laws; definition of phenotype, genotype, locus, gene, dominant and recessive allele, homozygosity and heterozygosity. Segregation and independent assortment. Chromosomal basis of heredity. Independence and association. Crossing-over and recombination. Genetic determination of sex. Dosage compensation in Mammals. Gene interactions. Incomplete dominance, codominance, multiple alleles, epistasis and polygenic inheritance, variable expressivity and penetrance. • The human genome: karyotype analysis and pedigrees; autosomal recessive, autosomal dominant, X-linked diseases. DIDACTIC METHOD Attendance to lessons is mandatory. Teaching methods consist of frontal lessons. In addition to the suggested texts, additional didactic supports are offered on the e-learning platform of the course. Students can make an appointment directly with the teacher every time they need it throughout the academic year, by email. Students are invited to choose a book among those indicated.
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MM: GENETICA MEDICA
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Bibliography

Examination Methods

Goal of the exam for the Course of Biological and biochemical sciences: to verify students' advanced comprehension of the whole program topics and their capability to expose their reasoning in a critical and precise manner using appropriate scientific terms.
6 examination appeals are foreseen in the whole Academic Year: 2 in the Winter Session after the Course ending, 2 in the Summer Session, and 2 in the Autumn session.
Students can sit an exam if they have attended at least 75% of the frontal teaching activity of the entire teaching. They will undertake three modules (written tests made of multiple choice quizzes and open questions); further information about exam organization is available in each module form. The final mark (/out of 30) will derive from the evaluation of the three modules. Students will pass the examination if the overall rating of all modules, based on the weighted average of credits, is greater than or equal to 18/30. Students can retire or refuse the proposed mark.

Students, who do not pass all the three exam modules in the same session, will only have to cover the missing/insufficient part in one of the subsequent sessions, if only within the extra winter session of the next Academic Year. From the next summer session, students will need to take all the three modules.