The course is focused on the steps that characterize the study of genetic diseases to identify new therapeutic strategies. I will discuss: i) how to study the function of genes related to diseases; ii) in vitro models to study genetic disease with a specific focus on those based on stem cells; iii) the strategies for the identification of pathogenic mechanisms; iv) pre-clinical studies in animal models ; v) clinical studies; vi) validation of new drug targets and the development of drug - screening assays; vii ) new therapeutic approaches based on gene therapy and stem cells.
The study of gene function - genetic and molecular strategies - the Evo-Devo approach
In vitro models: immortalized cell lines, primary cultures and co-cultures.
In vitro models based on stem cells - adult stem cells - introduction to hES and hiPS cell biology - the generation of induced pluripotent stem cells and their utility in disease modeling - differentiation of human induced pluripotent stem cells into neural cell types using the latest 2D and 3D methodologies - design CRISPRs for gene-editing of pluripotent stem cells
Ex vivo and in vivo models - isolating tissue and organ preparation - organotypic slice colture - small animal models (C. elegans, Drosophila melanogaster, zebrafish) - transgenic mouse models, knock-in and knock-out - large animal models (transgenic pig, sheep and monkey)
Molecular mechanisms of genetic disorders - the hypothesis-free approach: genomics, transcriptomics, proteomics, lipidomics - systems biology - the hypothesis-driven approach
Disease mechanisms and therapeutic targets - identification and validation of pharmacological targets: in vitro and in vivo studies - drug-screening assays
Pre-clinical research - pre-clinical drug trials in mice
Studies in patients - biomarkers for early diagnosis, follow-up of the progression of the disease and monitoring of therapeutic responses. - clinical trials - studies on post-mortem tissue
New therapeutic approaches and drug delivery strategy - RNAi as drugs - gene therapy - stem cell therapies - targeted drug delivery: nanoparticles, trojan horses and TAT-peptides.
Tutorials Ppt presentation and videos
Reference Material Scientific articles and reviews
Prerequisites and examination procedures Oral examination
Teaching Methods Traditional frontal lesson
Language of instruction English
Recommended Prerequisites None
Program information Ppt files and scientific articles will be available on Ariel 2.0 WebSite