Biology and genetics
(objectives)
The integrated course in Biology and Genetics aims to provide students with the functional logic of living systems, with particular attention to the properties and functions of the cell as a basic unit of life. The student will learn the unitary mechanisms that regulate the processes and activities of the cell and the interactions between cells; the principles that govern the diversity of biological units, in relation to their structural and functional characteristics, to the modes of gene expression, both within the different districts of a single individual (differentiation), and longitudinally, during evolution. The fundamental principles of molecular biology and genetics will also be addressed; particular emphasis will be given to aspects useful to students in medicine, such as the cellular and molecular bases of diseases and the effects of drugs on cell structure and function. The Medical Genetics part will provide students the knowledge on the main notions on inheritance of monogenic, chromosomal and multifactorial diseases. At the end of the course the student will be able to distinguish the main classes of genetic diseases and to recognize the modes of transmission of hereditary diseases.
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Code
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90219 |
Language
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ENG |
Type of certificate
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Profit certificate
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Module: APPLIED BIOLOGY
(objectives)
The integrated course of Biology and Genetics aims at providing the students with the functional logic of living systems, with particular attention to the properties and functions of cells as basic units of life. At the end of the course, the students will acquire the constructive logic of the fundamental biological structures at the different levels of organization of living matter, the general unitary principles that govern the functioning of the different biological systems, the learning of the experimental method and its applications to the study of biological phenomena. Fundamental principles within molecular biology and genetics will also be covered; special emphasis will be given in aspects that are useful to Medicine students, as the cellular and molecular basis of diseases and drug effects on the cell structure and function. In particular, the part of Medical Genetics will provide the knowledge on the main notions on inheritance of monogenic, chromosomal and multifactorial diseases. At the end of the course the students will have to know the main methods of analysis for the diagnosis of these disorders. He should show capacity to analyse pedigrees and clinical and molecular genetic data useful for genetic counselling and to know the major kind of genetic testing and their proper use.
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Language
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ENG |
Type of certificate
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Profit certificate
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Credits
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9
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Scientific Disciplinary Sector Code
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BIO/13
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Contact Hours
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90
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Type of Activity
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Basic compulsory activities
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Teacher
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Maiani Emiliano
(syllabus)
Cell cycle, mechanisms and regulation. DNA mutations and DNA repair pathways. Gene editing techniques, ZNF, Talen, CRISPR Cas9 in clinical trials. Cell death processes: apoptosis and necrosis. Caspases and BCL2 family of proteins. Autophagy. Basics of cancer biology, tumour suppressors and oncogenes. Basics of metastasization processes. DNA sequencing in research and clinic, GDC database.
(reference books)
“Essential Cell Biology”, V edition, Bruce Alberts et al., Norton.
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Dates of beginning and end of teaching activities
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From to |
Delivery mode
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Traditional
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Attendance
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Mandatory
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Evaluation methods
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Written test
Oral exam
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Teacher
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Pacini Laura
(syllabus)
BIOLOGY Characteristic of living cells: Cellular theory. Classification principles of living organisms. Cell Chemistry: Macromolecules: structure, shape and function. Prokaryotic and eukaryotic cell models: classification and major structural differences, Organelles (structure and function). Eukaryotic nuclear compartment, structure and functions. Plasma membrane: properties and functions, modes of transport of small molecules across the plasma membrane (simple diffusion, facilitated diffusion, active transport). Internal organization of the cell: intracellular compartments and protein sorting, intracellular membrane traffic, organelles. The cytoskeleton and cell motility. Nuclear compartment, structure and functions. The different levels of chromatin condensation. Energy conversion: Glycolysis and fermentation (outline). Mitochondria and Chloroplasts, structure and function. Molecular basis of hereditary information: DNA replication. DNA repair and its correlation with human diseases. RNA, structure and function: Main types of cellular RNAs and differences with respect to DNA in terms of molecular size, stability and biological functions.Transcription and RNA maturation. Genetic Code and its properties. Protein synthesis: How cells read the genome. Main posttranslational modifications of the polypeptide chains. Post-synthetic fate of proteins, endomembranes and membrane traffic: Endocytosis, pinocytosis, phagocytosis and receptor-mediated endocytosis (LDL). Control of gene expression: Molecular mechanisms that create specialized cell types. Functional organization of the eukaryotic genome. Histone code. Transcriptional control, role of chromatin condensation and of the degree of DNA methylation. Cell Cycle: The cell cycle control system. Apoptosis and Cancer, Tumor suppressors and protooncogenes. Cell Signaling:. Exchange of chemical signals through receptor proteins. The key role played by protein kinases in this process. The interactions between cells and their environment: Adhesion molecules and extracellular matrix. GENETICS Mitosis and Meiosis: principles of chromosome dynamics during mitosis and meiosis; molecular mechanisms of genetic recombination. Gene mutations: mutations by substitution, insertion or deletion of nucleotides. Spontaneous and induced mutations. Chemical and physical mutagens. DNA repair systems for single or double stranded DNA damage. Mitochondrial inheritance: relevance for human phylogenetic tree reconstruction. Population genetics: Hardy-Weinberg equilibrium and theoretical implications for understanding the mechanisms of biological evolution. Mobile genetic elements and evolution of the genomes
(reference books)
“Essential Cell Biology”, V edition, Bruce Alberts et al., Norton.
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Dates of beginning and end of teaching activities
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From to |
Delivery mode
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Traditional
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Attendance
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Mandatory
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Evaluation methods
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Written test
Oral exam
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Module: MEDICAL GENETICS
(objectives)
The aims of the course of Medical Genetics is to provide to students the knowledge on the main notions on inheritance of monogenic, chromosomal and multifactorial diseases. At the end of the course the student will have to know the main methods of analysis for the diagnosis of these disorders. He should show capacity to analyse pedigrees and clinical and molecular genetic data useful for genetic counselling and to know the major kind of genetic testing and their proper use.
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Language
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ENG |
Type of certificate
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Profit certificate
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Credits
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1
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Scientific Disciplinary Sector Code
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MED/03
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Contact Hours
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10
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Type of Activity
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Core compulsory activities
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Teacher
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Ciccacci Cinzia
(syllabus)
Basic Genetics Definitions of Key Terms Polymorphisms and mutations Blood groups Genetics
Principles of Genetic Transmission Mendel's Genetic Hypothesis The Monohybrid Crosses, Segregation of Two or More Genes Segregation in Human Pedigrees
Monogenic Inheritance Models: Autosomal inheritance Autosomal recessive inheritance X-linked inheritance
Genetic Risk calculation and pedigrees
Genomic Imprinting
X chromosome inactivation
Chromosome Structure and Analysis Chromosome Pathologies
The genetics of complex diseases: Concept of Genomic biomarker, inter-individual variability, Genetic approaches to investigate complex diseases Pharmacogenetics and Pharmacogenomics The role of genetic variability in the response to drugs, both in terms of efficacy and toxicity. Personalised Medicine
Genetic Tests and Counselling
(reference books)
" Medical Genetics" by Jorde - Carey – Bamshad
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Dates of beginning and end of teaching activities
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From to |
Delivery mode
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Traditional
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Attendance
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Mandatory
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