Francesca RIZZO | ELEMENTS OF MEDICAL GENETICS AND GENOMICS

cod. 0622900008

ELEMENTS OF MEDICAL GENETICS AND GENOMICS

	0622900008
	DIPARTIMENTO DI INGEGNERIA DELL'INFORMAZIONE ED ELETTRICA E MATEMATICA APPLICATA
	EQF7
	DIGITAL HEALTH AND BIOINFORMATIC ENGINEERING
	2018/2019

PERCORSO COMUNE

	OBBLIGATORIO
	YEAR OF COURSE 1
	YEAR OF DIDACTIC SYSTEM 2018
	PRIMO SEMESTRE

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 aims at providing the domain knowledge needed to understand the main problems in genomics and medical genetics that are addressed by bioinformatic tecnologies.

	Prerequisites
	-

	Contents
	Goals of Genetics in relation to other biological disciplines. DNA and RNA structure and function: replication, transcription, translation, regulation and genetic code. Structural genomics, anatomy of genomes Mendel, Single hybrid crossbreeding, dihybrid, polyhybrid: analysis of hereditary transmission mechanisms. Chromosomes, cell divisions, gametogenesis: relationship with Mendelian principles. Genetic analysis techniques of organisms and their life cycles. 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. 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. 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; transformation, conjugation, transduction, mapping of the bacterial chromosome. Human genetics: 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. 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. Proteogeniomics. Ontological analysis. The genome projects. 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 The transcriptome and high-throughput analysis of gene expression RNA - seq Functional genomics 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

Goals of Genetics in relation to other biological disciplines.
DNA and RNA structure and function: replication, transcription, translation, regulation and genetic code.
Structural genomics, anatomy of genomes
Mendel, Single hybrid crossbreeding, dihybrid, polyhybrid: analysis of hereditary transmission mechanisms.
Chromosomes, cell divisions, gametogenesis: relationship with Mendelian principles.
Genetic analysis techniques of organisms and their life cycles.
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.
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.
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; transformation, conjugation, transduction, mapping of the bacterial chromosome.
Human genetics: 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.
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.
Proteogeniomics.
Ontological analysis.
The genome projects.
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
The transcriptome and high-throughput analysis of gene expression
RNA - seq
Functional genomics
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 and exercises in the classroom. Lectures take advantage of the use of video-projection systems for viewing PowerPoint presentation. 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 and exercises in the classroom. Lectures take advantage of the use of video-projection systems for viewing PowerPoint presentation. 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

	More Information
	Course language is English.

BETA VERSION Data source ESSE3 [Ultima Sincronizzazione: 2019-10-21]

Francesca RIZZO | ELEMENTS OF MEDICAL GENETICS AND GENOMICS