Bioinformatics

OVERALL OBJECTIVES: The general aim of this course is to give to the student the basic knowledge concerning: 1) the fundamental molecular mechanisms that regulate human disease processes; 2) how recent biotechnological advances and next generation sequencing approaches can be integrated in the characterization of the pathologies; 3) the different types of genetically modified murine models for the study and the cure of human pathologies; 4) the main bioinformatic tools in this field. SPECIFIC OBJECTIVES: At the end of the course the student will be able, by applying the knowledge acquired during the course: 1) perform bibliographic searches on international databases; 2) perform data mining on most widely used databases 3) integrate notions acquired during lectures and international scientific literature; 4) understand the principal mechanisms of most common pathologies and how these can be studied with the aid of next generation sequencing approach; 4) to hypothesize the generation of animal models for the pathophysiological study of human diseases and for the identification of therapeutic targets; 5) to critically evaluate the best bioinformatic tools for achieving these results or alternatively, to pursue the replacement of animal experimentation. KNOWLEDGE AND UNDERSTANDING: At the end of the course the student woud be able to know: Concept and causes of alteration in the cell, from homeostasis to disease; Next generation Sequencing (NGS) technique used for different applications, from the study of genomes, chromatin accessibility and trascriptome; Molecular and cellular pathology of cancer; Pathogenetic mechanisms of non-coding RNAs; Stem cells: embryonic stem cells, tissue stem cells and cancer stem cells; advantages and limits of genetically modified murine models; the basic technical and bioinformatic tools concerning the generation, the characterization and the maintenance of murine colonies; the specific traits of the different types of genetically modified murine models, both conventional and conditional; the bioinformatic tools to potentially validate mouse models of human diseases. APPLYING KNOWLEDGE AND UNDERSTANDING: To apply the acquired knowledge to integrate information gathered from different sources (datasets, material obtained during lectures, and scientific literature); to understand different mechanisms that contribute to pathogenesis and how these mechanisms can be studied, with particular focus on NGS-based technologies; to discriminate advantages and limits in generating and using different types of genetically modified murine models for the study and the cure of human pathologies; to critically evaluate the bioinformatic means available to pursue these aims. MAKING JUDGEMENTS: The student will be able to link the different types of notions acquired during the course to elaborate the most appropriate experimental strategy based on bioinformatic tools and able to solve research problems in the field of general pathology. COMMUNICATION: The student will be able to perform oral presentation of scientific data, with the aid of Power Point software. Notions acquired during the course will be evaluated during the exam. LIFELONG LEARNING SKILLS: The notions, the tools and the notes available during the course will contribute in developing the competence for the autonomous study and continuous updating in the field of the Bioinformatics applied to the general pathology.