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LABORATORIO DI GENETICA MEDICA E BIOTECNOLOGIE FORENSI

Teaching Staff

MARCO FICHERA - Module Medical Genetics - MED/03 - 3 CFU
MONICA SALERNO - Module LABORATORIO DI BIOTECNOLOGIE FORENSI - MED/43 - 3 CFU

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Learning Objectives

• Medical Genetics
  

  At the end of course, students should be able to:

  To describe the structure of genes and genome, to explain the mechanisms of the regulation of gene expression and to understand how genetic and genome variants may lead to disease states and influence the phenotypic diversity. To understand the different techniques used to analyse the genetic and genomic variations both from a technical and bioinformatic point of view, especially considering DNA microarray, whole exome sequencing, and whole genome sequencing. Student should also be familiar with the use of RNA-seq techniques for the analysis of gene expression and to understand their importance for the study of complex systems. To know the genomic, transcriptomic and medical genetics database. To know the main current applications of gene therapy.

Course Structure

• Medical Genetics
  

  Frontal teaching and practical exercises.

  Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus.

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Detailed Course Content

• Medical Genetics
  

  Gene structure and gene expression regulation Coding and non coding genes Promoters, enhancers and transcriptional factors Fundamentals of epigenetics Alternative splicing Non coding and antisense transcripts RNA interference The structure of the genome The 3D genome Genomic databases   2. Whole genome and transcriptome analysis DNA Microarray Genome wide association analysis in complex diseases NGS techniques Whole exome sequencing Whole genome sequencing Bioinformatics for NGS data analysis Transcriptome analysis by RNA-seq approach   3. Genetic engineering in medicine Ttransgenic and knock-out mice Gene targeting and conditional mutagenesis The CRISPR/Cas9 model Applications of gene therapy

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Textbook Information

• Medical Genetics
  

  Human Molecular Genetics (English Edition) 5° Edizione ,‎ Garland Science

  Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier

  Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier

  RNA-seq Data Analysis: A Practical Approach CRC press

  Computational exome and genome analysis

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