Francesca RIZZO | GENOMICS AND TRANSCRIPTOMICS IN MEDICINE
Francesca RIZZO GENOMICS AND TRANSCRIPTOMICS IN MEDICINE
cod. 0522100045
GENOMICS AND TRANSCRIPTOMICS IN MEDICINE
| 0522100045 | |
| DEPARTMENT OF CHEMISTRY AND BIOLOGY "ADOLFO ZAMBELLI" | |
| EQF7 | |
| BIOLOGY | |
| 2023/2024 |
| OBBLIGATORIO | |
| YEAR OF COURSE 2 | |
| YEAR OF DIDACTIC SYSTEM 2022 | |
| AUTUMN SEMESTER |
| SSD | CFU | HOURS | ACTIVITY | ||
|---|---|---|---|---|---|
| GENOMICA E TRASCRITTOMICA APPLICATA ALLE PATOLOGIE (MODULO 1) | |||||
| MED/04 | 3 | 24 | LESSONS | ||
| MED/04 | 1 | 12 | LAB | ||
| GENOMICA E TRASCRITTOMICA APPLICATA ALLE PATOLOGIE (MODULO 2 ) | |||||
| MED/04 | 3 | 24 | LESSONS | ||
| MED/04 | 1 | 12 | LAB | ||
| Objectives | |
|---|---|
| The course aims to provide students with knowledge of new technologies, experimental approaches and methods of data analysis for the study of the genome, epigenome and transcriptome. In detail, students will have to master the methodologies for conducting large-scale molecular studies, understand the mechanisms related to the regulation of gene expression, both in prokaryotes and in eukaryotes and know how to analyze data, through the use of bioinformatics tools. This knowledge can be used to understand physiological and pathological molecular mechanisms, with modern and current approaches. |
| Prerequisites | |
|---|---|
| Basic knowledge of molecular and cellular biology |
| Contents | |
|---|---|
| Genome mapping Genetic and physical maps Molecular markers Transcriptome analysis methodologies cDNA, Northern blot, RT-PCR, Real-Time RT PCR, cDNA Libraries Second-generation sequencing technologies, comparison with the Sanger method Pyrosequencing, Illumina method RNA-seq, small RNA-seq, single-cell sequencing Third-generation sequencing techniques Epigenetics and regulation of gene expression DNA methylation Histone modifications Methods for DNA methylation analysis Genome analysis methodologies DNA sequencing methods Genome assembly Genome-wide association studies Molecular diagnostics Structure, function and evolution of genomes The human genome and the 1000 genomes projects Transcriptional regulatory elements in prokaryotes and eukaryotes Coding and non-coding RNA Cis and trans regulation: promoter, enhancers, isolators Chromatin and transcription: access, remodelling and histone modifications "Active", "poised" and "inactive" enhancers Transcription factors: functioning mechanisms of activators and repressors Compartmentalization of the genome: "Topologically Associating Domains (TADs)" Transcriptome and gene regulation analysis strategies Gene expression (RNA-seq) Single-cell transcriptomics (single-cell RNA-seq) Chromatin immunoprecipitation (ChIP-seq) Hi-C (High-throughput Chromosome conformation capture) Genome-Wide methylation analysis Analysis tools for genomics and transcriptomics Genomic browsers (Ensembl and UCSC) Databases Analysis tools Gene Ontology Molecular diagnosis of major genetic diseases The course is structured to guide the student through the different topics by placing them in different physio-pathological contexts, thus starting from the suspicion of genetic disorder and its molecular diagnosis. The genetic component in acquired diseases. Mendelian genetic diseases. Characteristics of diseases with autosomal dominant and recessive Mendelian transmission. Polygenic and multifactorial diseases. Quantitative and threshold traits. Characteristics of X-linked dominant and recessive transmission diseases. Genetic imprinting. Epigenetic mechanisms. Loss of heterozygosity. Mitochondrial inheritance and heteroplasmy. Characteristics of chromosomal diseases. Mutations in the number of sex chromosomes. Mutations in the structure of chromosomes. Dynamic mutation diseases. Mutations in tumours. Genetic instability syndromes. |
| Teaching Methods | |
|---|---|
| Lectures in the classroom with slide shows and videos. Exercises and laboratory activities to learn how to perform bioinformatic analysis of experimental data |
| Verification of learning | |
|---|---|
| Oral exam to verify the knowledge level and the ability to understand the topics covered during the course. The student must demonstrate the ability to apply the concepts learned, together with the technologies discussed in the course, to the solution of biological problems relating to genomics and transcriptomics. Both the ability to expose and the use of appropriate scientific language will be evaluated. |
| Texts | |
|---|---|
| Genetics & genomics in the medical sciences. Strachan T et al. Zanichelli. Genomes (4th edition). Brown T.A. EdiSES. Next Generation Sequencing Methods and Protocols, Head et al., Humana Press Additional material provided by the teacher: slides and scientific articles. Genetica Umana & Medica; G. Neri, M. Genuardi, Edra Masson. |
BETA VERSION Data source ESSE3 [Ultima Sincronizzazione: 2024-11-05]
