Francesca RIZZO | BIOLOGY AND GENOMICS

cod. 0622900028

BIOLOGY AND GENOMICS

	0622900028
	DIPARTIMENTO DI INGEGNERIA DELL'INFORMAZIONE ED ELETTRICA E MATEMATICA APPLICATA
	EQF7
	DIGITAL HEALTH AND BIOINFORMATIC ENGINEERING
	2021/2022

PERCORSO COMUNE

	OBBLIGATORIO
	YEAR OF COURSE 1
	YEAR OF DIDACTIC SYSTEM 2018
	AUTUMN SEMESTER

TEACHING UNITS

SSD	CFU	HOURS	ACTIVITY	TYPE OF ACTIVITY
MED/03	6	48	LESSONS	SUPPLEMENTARY COMPULSORY SUBJECTS
MED/03	3	24	EXERCISES	SUPPLEMENTARY COMPULSORY SUBJECTS

PROFESSORS

	FRANCESCA RIZZO T Curriculum
	GIOVANNI NASSA Curriculum

	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.

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
	KNOWLEDGE OF THE ENGLISH LANGUAGE

	Contents
	STRUCTURE AND FUNCTION OF NUCLEIC ACIDS (HOURS LESSON / EXERCISE / LABORATORY 6/0/0) DNA AND RNA STRUCTURE AND FUNCTION: REPLICATION, TRANSCRIPTION, TRANSLATION, REGULATION AND GENETIC CODE. STRUCTURAL GENOMICS MENDEL LAWS (HOURS LESSON / EXERCISE / LABORATORY 4/2/0) MENDEL, SINGLE HYBRID CROSSBREEDING, DIHYBRID, POLYHYBRID: ANALYSIS OF HEREDITARY TRANSMISSION MECHANISMS. CHROMOSOMES, CELL DIVISIONS, GAMETOGENESIS: RELATIONSHIP WITH MENDELIAN PRINCIPLES. GENOMICS OF MICROORGANISMS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0) GENETIC ANALYSIS TECHNIQUES OF ORGANISMS AND THEIR LIFE CYCLES. LINKAGE AND RECOMBINATION (HOURS LESSON / EXERCISE / LABORATORY 2/1/0) INHERITANCE LINKED TO SEX; GENETIC DETERMINATION OF SEX. ASSOCIATION, RECOMBINATION, CROSSING-OVER, ITS NATURE AND EVOLUTIONARY BIOLOGICAL SIGNIFICANCE. CHROMOSOME MAPPING, THREE-POINT CROSSING, INTERFERENCE; TETRAD ANALYSIS. CHROMOSOMIC ALTERATIONS (HOURS LESSON / EXERCISE / LABORATORY 6/1/0) ALTERATIONS OF CHROMOSOMES STRUCTURES: DELETIONS, DUPLICATIONS, INVERSIONS, TRANSLOCATIONS: THEIR PHENOTYPIC EFFECT AND BIOLOGICAL EVOLUTIONARY SIGNIFICANCE. ALTERATIONS IN THE NUMBER OF CHROMOSOMES: ANEUPLOIDY: CASES IN HUMANS. VARIATION OF PLOIDY NUMBER: ITS PHENOTYPIC EFFECT AND BIOLOGICAL EVOLUTIONARY SIGNIFICANCE. MUTATIONS (HOURS LESSON / EXERCISE / LABORATORY 4/1/0) MUTATION DETECTION TECHNIQUES. MOLECULAR BASIS OF MUTATIONS; PHYSICAL AND CHEMICAL MUTAGENS; MUTAGENICITY TESTS. MECHANISMS FOR REPAIRING DNA DAMAGE AND THEIR CONTRIBUTION TO MUTAGENESIS. BACTERIAL GENETICS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0) TRANSFORMATION, CONJUGATION, TRANSDUCTION, MAPPING OF THE BACTERIAL CHROMOSOME. HUMAN GENETICS (HOURS LESSON / EXERCISE / LABORATORY 4/1/0) GENETICS OF BLOOD GROUPS, IMMUNITY AND INBORN ERRORS OF METABOLISM. EXTRANUCLEAR GENETICS AND MATERNAL INHERITANCE: MITOCHONDRIAL GENOME AND CHLOROPLASTS, THEIR BIOLOGICAL-EVOLUTIONARY SIGNIFICANCE. GENERAL PRINCIPLES OF POPULATION GENETICS. MAIN TECHNOLOGIES OF DNA ANALYSIS AND MANIPULATION (HOURS LESSON / EXERCISE / LABORATORY 10/2/2) ELEMENTARY CYTOGENETIC TECHNIQUES. DNA MICROARRAYS TECHNOLOGY. GENOME SEQUENCING TECHNOLOGIES. HIGH-THROUGHPUT TECHNOLOGIES. SHOTGUN SEQUENCING. THE FIRST GENERATION SEQUENCING. SECOND-GENERATION SEQUENCING OR NEXT-GENERATION SEQUENCING (NGS). THIRD-GENERATION SEQUENCING. PROTEOGENOMICS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0) COMBINATION OF PROTEOMICS, GENOMICS AND TRANSCRIPTOMICS; ONTOLOGICAL ANALYSIS THE GENOME PROJECTS (HOURS LESSON / EXERCISE / LABORATORY 6/1/0) GENETIC POLYMORPHISMS AND GENE IDENTIFICATION MEDIATED BY GENOMIC MARKERS. MUTATIONS AND GENETIC VARIABILITY. GENETIC POLYMORPHISMS. POLYMORPHISMS OF SINGLE NUCLEOTIDES (SNPS). HAPLOTYPES AND GENOTYPING. SNP MARKERS, THE LINKAGE DISEQUILIBRIUM. THE CONCEPT OF "ODDS RATIO". MINISATELLITES AND MICROSATELLITES. DNA FINGERPRINTING AND ITS APPLICATIONS TRANSCRIPTOMICS (HOURS LESSON / EXERCISE / LABORATORY 2/1/0) THE TRANSCRIPTOME AND HIGH-THROUGHPUT ANALYSIS OF GENE EXPRESSION. RNA – SEQ. FUNCTIONAL GENOMICS EPIGENETICS (HOURS LESSON / EXERCISE / LABORATORY 6/2/0) DEFINITION OF EPIGENETICS. THE DISCOVERY OF EPIGENETIC PHENOMENA, HELEN CROUSE'S EXPERIMENTS. GENOMIC IMPRINTING IN INSECTS AND MAMMALS. GENOMIC IMPRINTING AND HUMAN DISEASES. AN OVERVIEW OF EPIGENETIC PHENOMENA. THE MOLECULAR MECHANISMS OF EPIGENETIC PHENOMENA. DNA METHYLATION, THE CPG ISLANDS. THE MODIFICATIONS OF THE HISTONES. NON-CODING RNA. EPIGENOMICS. THE GENOMIC DISTRIBUTION OF EPIGENETIC FACTORS. CHROMATIN IMMUNO PRECIPITATION (CHIP) –SEQ. METHYL-SEQ.

Contents

STRUCTURE AND FUNCTION OF NUCLEIC ACIDS (HOURS LESSON / EXERCISE / LABORATORY 6/0/0)
DNA AND RNA STRUCTURE AND FUNCTION: REPLICATION, TRANSCRIPTION, TRANSLATION, REGULATION AND GENETIC CODE. STRUCTURAL GENOMICS

MENDEL LAWS (HOURS LESSON / EXERCISE / LABORATORY 4/2/0)
MENDEL, SINGLE HYBRID CROSSBREEDING, DIHYBRID, POLYHYBRID: ANALYSIS OF HEREDITARY TRANSMISSION MECHANISMS. CHROMOSOMES, CELL DIVISIONS, GAMETOGENESIS: RELATIONSHIP WITH MENDELIAN PRINCIPLES.

GENOMICS OF MICROORGANISMS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0)
GENETIC ANALYSIS TECHNIQUES OF ORGANISMS AND THEIR LIFE CYCLES.

LINKAGE AND RECOMBINATION (HOURS LESSON / EXERCISE / LABORATORY 2/1/0)
INHERITANCE LINKED TO SEX; GENETIC DETERMINATION OF SEX. ASSOCIATION, RECOMBINATION, CROSSING-OVER, ITS NATURE AND EVOLUTIONARY BIOLOGICAL SIGNIFICANCE.
CHROMOSOME MAPPING, THREE-POINT CROSSING, INTERFERENCE; TETRAD ANALYSIS.

CHROMOSOMIC ALTERATIONS (HOURS LESSON / EXERCISE / LABORATORY 6/1/0)
ALTERATIONS OF CHROMOSOMES STRUCTURES: DELETIONS, DUPLICATIONS, INVERSIONS, TRANSLOCATIONS: THEIR PHENOTYPIC EFFECT AND BIOLOGICAL EVOLUTIONARY SIGNIFICANCE.
ALTERATIONS IN THE NUMBER OF CHROMOSOMES: ANEUPLOIDY: CASES IN HUMANS.
VARIATION OF PLOIDY NUMBER: ITS PHENOTYPIC EFFECT AND BIOLOGICAL EVOLUTIONARY SIGNIFICANCE.

MUTATIONS (HOURS LESSON / EXERCISE / LABORATORY 4/1/0)
MUTATION DETECTION TECHNIQUES.
MOLECULAR BASIS OF MUTATIONS; PHYSICAL AND CHEMICAL MUTAGENS; MUTAGENICITY TESTS.
MECHANISMS FOR REPAIRING DNA DAMAGE AND THEIR CONTRIBUTION TO MUTAGENESIS.

BACTERIAL GENETICS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0)
TRANSFORMATION, CONJUGATION, TRANSDUCTION, MAPPING OF THE BACTERIAL CHROMOSOME.

HUMAN GENETICS (HOURS LESSON / EXERCISE / LABORATORY 4/1/0)
GENETICS OF BLOOD GROUPS, IMMUNITY AND INBORN ERRORS OF METABOLISM.
EXTRANUCLEAR GENETICS AND MATERNAL INHERITANCE: MITOCHONDRIAL GENOME AND CHLOROPLASTS, THEIR BIOLOGICAL-EVOLUTIONARY SIGNIFICANCE.
GENERAL PRINCIPLES OF POPULATION GENETICS.

MAIN TECHNOLOGIES OF DNA ANALYSIS AND MANIPULATION (HOURS LESSON / EXERCISE / LABORATORY 10/2/2)
ELEMENTARY CYTOGENETIC TECHNIQUES. DNA MICROARRAYS TECHNOLOGY. GENOME SEQUENCING TECHNOLOGIES. HIGH-THROUGHPUT TECHNOLOGIES. SHOTGUN SEQUENCING. THE FIRST GENERATION SEQUENCING. SECOND-GENERATION SEQUENCING OR NEXT-GENERATION SEQUENCING (NGS). THIRD-GENERATION SEQUENCING.

PROTEOGENOMICS (HOURS LESSON / EXERCISE / LABORATORY 2/0/0)
COMBINATION OF PROTEOMICS, GENOMICS AND TRANSCRIPTOMICS; ONTOLOGICAL ANALYSIS

THE GENOME PROJECTS (HOURS LESSON / EXERCISE / LABORATORY 6/1/0)
GENETIC POLYMORPHISMS AND GENE IDENTIFICATION MEDIATED BY GENOMIC MARKERS. MUTATIONS AND GENETIC VARIABILITY. GENETIC POLYMORPHISMS. POLYMORPHISMS OF SINGLE NUCLEOTIDES (SNPS).
HAPLOTYPES AND GENOTYPING. SNP MARKERS, THE LINKAGE DISEQUILIBRIUM. THE CONCEPT OF "ODDS RATIO". MINISATELLITES AND MICROSATELLITES. DNA FINGERPRINTING AND ITS APPLICATIONS

TRANSCRIPTOMICS (HOURS LESSON / EXERCISE / LABORATORY 2/1/0)
THE TRANSCRIPTOME AND HIGH-THROUGHPUT ANALYSIS OF GENE EXPRESSION. RNA – SEQ. FUNCTIONAL GENOMICS

EPIGENETICS (HOURS LESSON / EXERCISE / LABORATORY 6/2/0)
DEFINITION OF EPIGENETICS. THE DISCOVERY OF EPIGENETIC PHENOMENA, HELEN CROUSE'S EXPERIMENTS. GENOMIC IMPRINTING IN INSECTS AND MAMMALS. GENOMIC IMPRINTING AND HUMAN DISEASES. AN OVERVIEW OF EPIGENETIC PHENOMENA. THE MOLECULAR MECHANISMS OF EPIGENETIC PHENOMENA. DNA METHYLATION, THE CPG ISLANDS. THE MODIFICATIONS OF THE HISTONES. NON-CODING RNA. EPIGENOMICS. THE GENOMIC DISTRIBUTION OF EPIGENETIC FACTORS. CHROMATIN IMMUNO PRECIPITATION (CHIP) –SEQ. METHYL-SEQ.

	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.

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.

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.

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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Francesca RIZZO | BIOLOGY AND GENOMICS