BIOLOGY AND GENETICS

Course objectives

General Objectives The integrated course aims at enabling students to know the principles of cell organization and function; to understand the molecular bases of biological processes; to be conscious that any alteration in these processes can give rise to pathological conditions; to learn to use the genetic tools in the medical practice; to know the applications of molecular genetic techniques in the diagnosis and treatment of genetic disorders. Specific Objectives Knowledge and understanding: passing the exam guarantees the understanding of i) cellular structures, ii) the basic mechanisms of the pathophysiological and iii) genetic processes. Ability to apply knowledge and understanding: passing the exam guarantees the ability to understand the molecular causes underlying the pathological processes in the biomedical field. Autonomy of judgment: passing the exam implies the ability to critically judge the molecular mechanisms underlying diseases and the understanding of pedigrees in the context of genetic diseases. Communication skills: passing the exam implies the ability to effectively use the communication tools of publications and scientific communications. Learning skills: passing the exam implies the transversal learning capacity common to the logic of scientific investigation in the biomedical field.

Channel 1
CARMINE MANCONE Lecturers' profile

Program - Frequency - Exams

Course program
BIOLOGY Introduction to Cell Biology: Cell organization; energy and chemical reactions, chemical bonds, protein structure; energy conversion; enzymes and biochemical reactions. Cell membrane structure and functions: membrane components; the fluid mosaic model; transport across cell membrane. Cellular energetics: ATP synthesis; mitochondrial structure and fuction; glycolysis; the citric acid cycle; the electron transport; mitochondrial ATP-synthetase. Cell-to-cell and cell-to-extracellular environment interactions: Extra-Cellular Matrix (ECM); cell-to-cell and cell-to-ECM adhesion; cell junctions. Cytoskeleton and cellular movements: structure and functions of microtubules, microfilaments and intermediate filaments; the myosin as a cellular engine; muscle contractility. Cytoplasmic membrane systems: rough and smooth endoplasmic reticulum; Golgi complex; protein synthesis, sorting, and glycosilation; secretion; lysosomes; phagocytosis and endocytosis. DNA: structure, replication and repair; the double helix; the semiconservative replication; origin of replication; telomerase; main mechanisms of DNA repair. The flow of genetic information: transcription and translation; relations between genes and proteins. Transcription in procariotes. Transcription and RNA maturation in eucaryotes. Messenger RNA, ribosomal RNA, RNA transfer, the genetic code, decyfering of the genetic code. Ribosome structure. Translation: initiation, elongation and termination. Cell communication: G protein-liked receptors; effectors and second messengers; tyrosine kinase receptors. Phosphorylation cascades (MAP kinases). Examples of the main signalling pathways. Cell cycle: the phases of cell cycle; the control of cell cycle; G1/S and G2/M checkpoints; cyclin/CDK complexes; mitosis. Cancer: general characteristics and phenotypes of cancer cells; oncogenes and oncosuppressors; metastasis; new therapeutic strategies (rationale) of cancer therapy. Programmed cell death; role of apoptosis in the control of cell cycle. Autophagy. Cell differentiation; maintenance of the differentiated state; tissue renovation for duplication or through stem cells division. GENETICS The tools of genetic analysis: The subjects of genetics: viruses, cells, organisms, populations. The fundamental biological theory: Darwinism. Life cycles and mechanisms of asexual and sexual reproduction. Genes and chromosomes, alleles and homologous chromosomes. Genotype and phenotype: gene-protein-character relationship. Homozygotes and heterozygotes. Dominance and recessivity. Meiotic mechanism of chromosome transmission. Analysis of the general mechanisms of heredity: Mendelism: the segregation of alleles and independent assortment; Mendel's experiments. X-linked inheritance. Inheritance of associated genes on the same chromosome, meiotic recombination and genetic maps. Exceptions to Mendelism and gene interaction (epistasis, complementation, suppression and gene duplication. Penetrance and expressiveness. Recombination analysis: meaning and mechanics of recombination. Gene map in eukaryotes. Human karyotype analysis. Chromosomal mutations: variations in number and structure. Inversions, translocations, deletions and duplications. Meiotic origin of chromosomal number abnormalities. Bacterial genetics: recombination in bacteria by conjugation, transformation and translation. Plasmids and episomes. Viral and plasmid chromosome map. Gene mutations and the genetic code: Mechanisms of mutation onset; mutagenic agents. Levels of mutation analysis. Point mutations, deletions and insertions. The genetics of cancer. Recombinant DNA technology and genetic engineering: methodology of genetic engineering. Genome structure and organization of gene sequences in humans. Diagnostic use of molecular probes. Molecular genetics and gene expression regulation: transcription control in prokaryotes. Inducible and repressible operons; transcription control in eukaryotes; role of chromatin in the regulation of transcription; post-transcriptional and translational regulation; splicing control. Gene assay and lyonization. The globin gene family in humans. Blood groups in humans (ABO and Rh systems). Biochemical genetics and determination of a metabolic pathway. Heterologous recombination: mobile genetic elements and viral integration. Human genetics: genetic and molecular aspects of some hereditary diseases.
Prerequisites
For a fruitful study of the subject of study, and for an adequate understanding of the didactic materials, notions of basic arithmetic and general and inorganic chemistry should be required as a prerequisite.
Books
BIOLOGY B. Alberts, K. Hopkin, A. Johnson, D. Morgan, M. Raff, K. Roberts, P. Walter: Essenziale di biologia molecolare della cellula, Zanichelli Weinberg, La biologia del cancro, Zanichelli GENETICS A.J. Griffiths, J. Doebley, C. Peichel, D.A. Wassarman, Genetica (Principi di analisi formale), Zanichelli
Teaching mode
The course will mainly consist of lectures, with some exercise. The lectures aim to deepen the undertanding of the pivotal topics in cellular and molecular biology and genetics. The elucidation of scientific problems, of experimental techniques in biomedical research and the resolution of pedigrees contributes to the autonomy of judgment, to the development of communication skills, to develop problem solving skills, and to develop learning skills.
Frequency
Mandatory attendance
Exam mode
Written: 27 multiple choice questions (5 options) and 3 open questions. The test should be completed within 50 minutes. To access the oral evaluation, it is necessary to obtain a score that is at least "sufficient" (overall assessment 18/30). Oral: through an interview the candidate must demonstrate that he/she has acquired the knowledge and the critical ability to interpret the topics and problems set out in the program. The candidate may be requested of solving exercises of formal/molecular genetics and of analyzing pedigrees.
Lesson mode
Lectures in the classroom
RAFFAELE STRIPPOLI Lecturers' profile

Program - Frequency - Exams

Course program
Core curriculum BIOLOGY: Introduction to Cell Biology: Cell organization; energy and chemical reactions, chemical bonds, protein structure; energy conversion; enzymes and biochemical reactions. Cell membrane structure and functions: membrane components; the fluid mosaic model; transport across cell membrane. Cellular energetics: ATP synthesis; mitochondrial structure and fuction; glycolysis; the citric acid cycle; the electron transport; mitochondrial ATP-synthetase. Cell-to-cell and cell-to-extracellular environment interactions: Extra-Cellular Matrix (ECM); cell-to-cell and cell-to-ECM adhesion; cell junctions. Cytoskeleton and cellular movements: structure and functions of microtubules, microfilaments and intermediate filaments; the myosin as a cellular engine; muscle contractility. Cytoplasmic membrane systems: rough and smooth endoplasmic reticulum; Golgi complex; protein synthesis, sorting, and glycosilation; secretion; lysosomes; phagocytosis and endocytosis. DNA: structure, replication and repair; the double helix; the semiconservative replication; origin of replication; telomerase; main mechanisms of DNA repair. The flow of genetic information: transcription and translation; relations between genes and proteins. Transcription in procariotes. Transcription and RNA maturation in eucaryotes. Messenger RNA, ribosomal RNA, RNA transfer, the genetic code, decyfering of the genetic code. Ribosome structure. Translation: initiation, elongation and termination. Cell communication: G protein-liked receptors; effectors and second messengers; tyrosine kinase receptors. Phosphorylation cascades (MAP kinases). Examples of the main signalling pathways. Cell cycle: the phases of cell cycle; the control of cell cycle; G1/S and G2/M checkpoints; cyclin/CDK complexes; mitosis. Cancer: general characteristics and phenotypes of cancer cells; oncogenes and oncosuppressors; metastasis; new therapeutic strategies (rationale) of cancer therapy. Programmed cell death; role of apoptosis in the control of cell cycle. Autophagy. Cell differentiation; maintenance of the differentiated state; tissue renovation for duplication or through stem cells division. Core curriculum GENETICS: The tools of genetic analysis: The subjects of genetics: viruses, cells, organisms, populations. The fundamental biological theory: Darwinism. Life cycles and mechanisms of asexual and sexual reproduction. Genes and chromosomes, alleles and homologous chromosomes. Genotype and phenotype: gene-protein-character relationship. Homozygotes and heterozygotes. Dominance and recessivity. Meiotic mechanism of chromosome transmission. Analysis of the general mechanisms of heredity: Mendelism: the segregation of alleles and independent assortment; Mendel's experiments. X-linked inheritance. Inheritance of associated genes on the same chromosome, meiotic recombination and genetic maps. Exceptions to Mendelism and gene interaction (epistasis, complementation, suppression and gene duplication. Penetrance and expressiveness. Recombination analysis: meaning and mechanics of recombination. Gene map in eukaryotes. Human karyotype analysis. Chromosomal mutations: variations in number and structure. Inversions, translocations, deletions and duplications. Meiotic origin of chromosomal number abnormalities. Bacterial genetics: recombination in bacteria by conjugation, transformation and translation. Plasmids and episomes. Viral and plasmid chromosome map. Gene mutations and the genetic code: Mechanisms of mutation onset; mutagenic agents. Levels of mutation analysis. Point mutations, deletions and insertions. The genetics of cancer. Recombinant DNA technology and genetic engineering: methodology of genetic engineering. Genome structure and organization of gene sequences in humans. Diagnostic use of molecular probes. Molecular genetics and gene expression regulation: transcription control in prokaryotes. Inducible and repressible operons; transcription control in eukaryotes; role of chromatin in the regulation of transcription; post-transcriptional and translational regulation; splicing control. Gene assay and lyonization. The globin gene family in humans. Blood groups in humans (ABO and Rh systems). Biochemical genetics and determination of a metabolic pathway. Heterologous recombination: mobile genetic elements and viral integration. Evolutionary genetics: Population genetics and Hardy & Weinberg equilibrium. Sources of genetic variability: mutations and sexual reproduction Agents or evolutionary factors: mutation, migration, genetic drift, natural selection and fitness. Genetic polymorphisms within the species. Mechanisms of speciation. Macroevolution. Molecular evolution. Human genetics: genetic and molecular aspects of some hereditary diseases
Prerequisites
For a fruitful learning of the subject of study, and for an adequate understanding of the didactic materials, notions of basic arithmetic and general and inorganic chemistry are required as a prerequisite.
Books
BIOLOGIA Alberts, Essenziale di biologia molecolare della cellula, Zanichelli Karp, Biologia Cellulare e molecolare, EdiSes Becker, Il mondo della cellula, EdiSes GENETICA P. J. Russell , Genetica, Un approccio molecolare , Pearson D. P. Snustad, M. J. Simmons - Principi di Genetica , EdiSES Ghisotti, Ferrari, ESERCIZIARIO DI GENETICA, Piccin
Teaching mode
The course will mainly consist of lectures, with some exercise. The lectures aim to deepen the undertanding of the pivotal topics in cellular and molecular biology and genetics. The elucidation of scientific problems, of experimental techniques in biomedical research and the resolution of pedigrees contributes to the autonomy of judgment, to the development of communication skills, to develop problem solving skills, and to develop learning skills
Frequency
The attendance to the courses is mandatory.
Exam mode
Written: 27 multiple choice questions (5 options) and 3 open questions. The test should be completed within 50 minutes. To access the oral evaluation, it is necessary to obtain a score that is at least "sufficient" (overall assessment 18/30). Oral: through an interview the candidate must demonstrate that he/she has acquired the knowledge and the critical ability to interpret the topics and problems set out in the program. The candidate may be requested of solving exercises of formal/molecular genetics and of analyzing pedigrees.
  • Lesson code1035248
  • Academic year2024/2025
  • CourseMedicine and Surgery
  • CurriculumSingle curriculum
  • Year1st year
  • Semester2nd semester
  • SSDBIO/13
  • CFU7
  • Subject areaDiscipline generali per la formazione del medico