Giovanni NASSA | BIOLOGY AND GENOMICS
Giovanni NASSA BIOLOGY AND GENOMICS
cod. 0623200003
BIOLOGY AND GENOMICS
| 0623200003 | |
| DEPARTMENT OF INFORMATION AND ELECTRICAL ENGINEERING AND APPLIED MATHEMATICS | |
| EQF7 | |
| INFORMATION ENGINEERING FOR DIGITAL MEDICINE | |
| 2024/2025 |
| OBBLIGATORIO | |
| YEAR OF COURSE 1 | |
| YEAR OF DIDACTIC SYSTEM 2022 | |
| AUTUMN SEMESTER |
| SSD | CFU | HOURS | ACTIVITY | |
|---|---|---|---|---|
| MED/03 | 7 | 56 | LESSONS | |
| MED/03 | 2 | 16 | EXERCISES |
| Objectives | |
|---|---|
| THE COURSE PROVIDES THE METHODOLOGICAL BASIS OF DOMAIN TO UNDERSTAND THE MAIN PROBLEMS OF BIOLOGICAL AND GENOMIC NATURE IN ORDER TO APPLY TYPICAL BIOINFORMATICS TOOLS FOR DATA ANALYSIS. KNOWLEDGE AND UNDERSTANDING CHARACTERISTICS OF CELLS AND CELL SYSTEMS; PROTEINS AND THEIR STRUCTURES. RELATIONSHIP BETWEEN STRUCTURE AND FUNCTION. CHARACTERISTICS OF NUCLEIC ACIDS (DNA, RNA) AND OF GENETIC INFORMATION TRANSFER. THE HUMAN GENOME. SEQUENCING TECHNIQUES. CLINICAL ANALYSIS AND INTERPRETATION OF THE GENOME FOR THE DIAGNOSIS OF DISEASES. APPLYING KNOWLEDGE AND UNDERSTANDING MATCH THE MAIN ISSUES OF BIOLOGY AND GENOMICS WITH DATA PROCESSING AND ANALYSIS PROCEDURES. USE KNOWLEDGE OF BIOLOGY AND GENOMICS TO UNDERSTAND THE REQUIREMENTS OF A BIOINFORMATICS SYSTEM OR DIGITAL HEALTH APPLICATION. |
| Prerequisites | |
|---|---|
| - |
| Contents | |
|---|---|
| UNIT OF BIOLOGY: - BIOMOLECULES (CARBOHYDRATES, NUCLEIC ACIDS, PROTEINS, LIPIDS) -PROKARYOTIC CELL -EUKARYOTIC CELL -BIOLOGICAL MEMBRANES: STRUCTURE AND FUNCTIONS -CELLULAR COMMUNICATION -FUNDAMENTALS OF IMMUNOBIOLOGY -ABO AND RH SYSTEM - TECHNIQUES OF ENUMERATION AND CELLULAR IMMUNEPHENOTYPICAL CHARACTERIZATION -FLOW CYTOFLUORIMETRY AND MULTIPARAMETRIC ANALYSIS TECHNIQUES -THE CELL CYCLE -TUMOR BIOLOGY UNITS OF MEDICAL GENETICS AND GENOMICS: - STRUCTURE AND FUNCTION OF NUCLEIC ACIDS (DNA AND RNA STRUCTURE AND FUNCTION: REPLICATION, TRANSCRIPTION, TRANSLATION, REGULATION AND GENETIC CODE). -MENDEL'S LAWS AND ANALYSIS OF HEREDITARY TRANSMISSION MECHANISMS. -CHROMOSOMES, CELL DIVISIONS, GAMETOGENESIS: RELATIONSHIP WITH MENDELIAN PRINCIPLES. - APPLICATION OF MENDEL'S LAWS -LINKAGE AND RECOMBINATION -CHROMOSOMAL ALTERATIONS: ALTERATIONS IN THE STRUCTURE OF THE CHROMOSOMES: DELETIONS, DUPLICATIONS, INVERSIONS, TRANSLOCATIONS: THEIR PHENOTYPICAL EFFECT AND EVOLUTIONARY BIOLOGICAL SIGNIFICANCE. -SEX-LINKED INHERITANCE; GENETIC SEX DETERMINATION. ALTERATIONS IN THE NUMBER OF CHROMOSOMES: ANEUPLOIDIA: CASES IN HUMAN. VARIATION IN PLOIDIA NUMBER: ITS PHENOTYPICAL EFFECT AND EVOLUTIONARY BIOLOGICAL SIGNIFICANCE. - GENOMICS OF MICROORGANISMS (TECHNIQUES FOR GENETIC ANALYSIS OF MICROORGANISMS AND THEIR LIFE CYCLES) - MUTATIONS: TECHNIQUES FOR IDENTIFICATION OF MUTATIONS, MOLECULAR BASIS OF MUTATIONS; PHYSICAL AND CHEMICAL MUTAGE AGENTS; MUTAGENICITY TESTS. - DNA DAMAGE REPAIR MECHANISMS AND THEIR CONTRIBUTION TO MUTAGENESS. - TRANSFORMATION, CONJUGATION, TRANSDUCTION, MAPPING OF THE BACTERIAL CHROMOSOME. -MAIN TECHNOLOGIES OF DNA ANALYSIS AND MANIPULATION: ELEMENTARY CYTOGENETICS TECHNIQUES, GENOME SEQUENCEING, TECHNOLOGIES, HIGH-THROUGHPUT TECHNOLOGIES, SHOTGUN SEQUENCEING - DNA MICROARRAYS TECHNOLOGY, - 1ST GENERATION SEQUENCEING, 2ND GENERATION SEQUENCEING OR NEXT GENERATION SEQUENCEING (NGS). - III GENERATION SEQUENCEING - EXERCISE ON SEQUENCEING TECHNIQUES - FUNCTIONAL GENOMICS LABORATORY EXPERIENCE -PROTEOGENOMICS: COMBINATION OF PROTEOMICS, GENOMICS AND TRANSCRIPTOMICS; ONTOLOGICAL ANALYSIS - THE GENOME PROJECTS: GENETIC POLYMORPHISM AND THE IDENTIFICATION OF GENES MEDIATED BY GENOMIC MARKERS, - MUTATIONS AND GENETIC VARIABILITY, SINGLE NUCLEOTIDE POLYMORPHISM (SNPS), -HAPLOTYPES AND GENOTYPING, SNP MARKERS, -THE DISEQUILIBRIUM LINKAGE, MINISATELLITES AND MICROSATELLITES, DNA FINGERPRINTING AND ITS APPLICATIONS - THE TRANSCRIPTOME AND HIGH-THROUGHPUT ANALYSIS OF GENE EXPRESSION, RNA – SEQ, FUNCTIONAL GENOMICS - EPIGENETICS: MOLECULAR MECHANISMS OF EPIGENETIC PHENOMENA, DNA METHYLATION, CPG ISLANDS, HISTONE MODIFICATIONS, NON-CODING RNA, EPIGENOMICS, GENOMIC DISTRIBUTION OF EPIGENETIC FACTORS. |
| Teaching Methods | |
|---|---|
| THE COURSE IS CARRIED OUT THROUGH LECTURES (58 HOURS), CLASSROOM EXERCISES (12 HOURS), AND LABORATORY EXPERIENCES (2 HOURS). LECTURES TAKE ADVANTAGE OF THE USE OF VIDEO-PROJECTION SYSTEMS FOR VIEWING POWERPOINT PRESENTATIONS. THE LECTURES WILL INTRODUCE SUBJECTS WITH GRADUAL COMPLEXITY ADEQUATELY TO THE DEVELOPMENT OF THE TRAINING PATH AND WILL BE SUPPORTED BY DIFFERENT TEACHING METHODOLOGIES INCLUDING SEMINAR LESSONS BUT ALWAYS PROVIDING THE STUDENT IN THE FOREGROUND, WHO WILL BE ACTIVELY INVOLVED BY INTERVENING WITH PROPOSALS AND QUESTIONS. |
| Verification of learning | |
|---|---|
| THE ASSESSMENT OF LEARNING BY THE STUDENT IS CARRIED OUT THROUGH A WRITTEN TEST THAT IS HELD AFTER THE END OF THE COURSE FOLLOWED BY AN ORAL TEST. THE WRITTEN TEST IS PROPOSED WITH MULTIPLE CHOICE QUESTIONS FROM ALL THE TOPICS COVERED IN THE COURSE. IN THE EVENT OF A NEGATIVE OUTCOME OF THE WRITTEN TEST, THE STUDENT CAN NOT TAKE THE ORAL EXAM BUT CAN TAKE THE EXAM AGAIN DURING THE SUBSEQUENT APPEALS. THE FINAL EVALUATION WILL TAKE INTO CONSIDERATION THE OUTCOME OF THE WRITTEN AND ORAL TESTS AND WILL, THEREFORE, PROVIDE A MARK OUT OF THIRTY. |
| Texts | |
|---|---|
| GENETICS: FROM GENES TO GENOMES (HARTWELL, GENETICS) 4TH EDITION GENETICS, PETER J. RUSSELL. REED COLLEGE. 5TH EDITION TEXTS FOR THE STUDY OF SPECIFIC TOPICS GENETICS: A CONCEPTUAL APPROACH. BENJAMIN A. PIERCE GENETICS IN MEDICINE. NUSSBAUM, ET AL. THOMPSON & THOMPSON. PHILADELPHIA: SAUNDERS/ELSEVIER. EPIGENETICS. ALLIS ET AL. COLD SPRIG HARBOR LABORATORY PRESS SUPPLEMENTARY TEACHING MATERIAL WILL BE AVAILABLE ON THE UNIVERSITY E-LEARNING PLATFORM (HTTP://ELEARNING.UNISA.IT) ACCESSIBLE TO STUDENTS USING THEIR OWN UNIVERSITY CREDENTIALS. |
| More Information | |
|---|---|
| THE COURSE IS HELD IN ENGLISH. |
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