ADVANCED AND QUANTITATIVE GENETICS - Mod. Human Genetics and Genomics
- Scheda dell'insegnamento
- Obiettivi formativi
- Metodi didattici
- Verifica dell'apprendimento
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Knowledge and understanding (Knowledge and know)
Development of the conceptual tools necessary for a critical analysis of the current genetic paradigms in human genetics. After attending the course, students will acquire a comprehensive knowledge of the theoretical and practical tools needed for the critical evaluation of the most recent achievements in the fields of Human Molecular Genetics and Human Genomics (and its multiple applications).
Applying knowledge and understanding (Skills and know how)
Achievement of the ability to apply the acquired knowledge in relation to the professional approach. Achievement of the comprehension skills required to develop and maintain issues related to the acquired knowledge, by means of critical reasoning and problem-solving attitudes.
Basic molecular genetics background as well as biochemical, physiological and cellular/molecular biology basic notions are required.
MODULE OF GENOMICS (4 CFUs, 32 hours)
• From Genetics to Genomics: introduction to the theoretical issues and the main technological achievements leading to the birth of genomic science.
• Genome project, part 1: Rationale, aims and planning. Polymorphic genetic markers and genetic maps. Assembly of the first genomic maps for the human and animal models genomes. Theoretical basis of linkage analysis in humans. Calculation of LOD scores and recombination fraction in the human genome. Autozygosity mapping approaches.
• Genome project, part 2: Introduction to the physical maps of a genome. Somatic cell and radiation hybrids. Physical maps based on FISH assays. Genomic libraries and assembly of recombinant clone contigs by fingerprinting or STS-content mapping. Transcription maps of the genome. The EST project.
• Genome project, part 3: Theoretical issues concerning genome sequencing. Human genome sequencing: the “clone-by-clone” e “whole genome shotgun” approaches. The public and private human genome projects. Validation and implementation of the human genome sequence assembly.
• The post-genomic era: Genome annotation approaches. The informational content of the human genome. Gene number and biological complexity: toward a new definition of “gene”. The GeneOntology and EnCODE projects.
• Genome transplantation: an avenue for synthetic life.
• Functional Genomics: Forward and reverse genomics approaches in the most used model organisms.
• Genomic approaches for the genetic dissection of complex diseases: Linkage disequilibrium mapping. The advent of SNP markers and the HapMAp project. Genome-wide association studies (GWAS). Introduction to personal genomics. Approaches for next generation sequencing. The 1000 genome project. .Mapping human disease genes by exome sequencing.
MODULE OF GENOMICS: normal class lessons will be held. Class lessons will be held with the aid of slide presentation sessions, coupled to projection of didactic movies when required.
MODULE OF HUMAN GENETICS
Tutorial lessons will be held and complemented by web-based interactive platforms, which will be broadly utilized.
MODULE OF GENOMICS: at the end of the module, students will undergo an oral examination. During the exam, the acquired knowledge will be evaluated by raising at least three question focussed on different issues. For each student, the final judgement will consider the quality and precision of the answers (70%), the ability to motivate statements (20%) and teh communication skills (10%). The time for the exam is about 20-25 minutes and the exam will be considered passed equal or over the 18/30 mark.
MODULE OF HUMAN GENETICS : At the end of the module, students will undergo an oral examination and will be evaluated on the following criteria: knowledge of the genetic approaches and their limitations, understanding of genetic paradigms used to explain genetic phenomena and processes, and understanding of the comparative analysis of different paradigms employed in the course. The time for the exam is about 20-25 minutes and the exam will be considered passed equal or over the 18/30 mark.
The final mark will be calculated as the mean of the marks achieved for the two teaching modules.
MODULE OF GENOMICS: The teaching material is updated regularly and will be provided to all students in the e-learning online platform as Powerpoint slides file, short notes, animation files and articles from scientific literature on selected issues.
• TA Brown – “Genomes 3” (Garland Science Publ.)
• T Strachan & A. Read – “Human Molecular Genetics” (Garland Science Publ.)
• J Watson, R Meyers, A Caudy & J Witkowski - “Recombinant DNA: genes and genomes” (W.H. Freeman & Co)
MODULE OF HUMAN GENETICS : Powerpoint slides and articles from scientific literature on specific topics will be provided.
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