Stem cells and genetic diseases

A.A. 2016/2017
Insegnamento per
Crediti massimi
Ore totali
Obiettivi formativi
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.

Struttura insegnamento e programma

Edizione attiva
Lezioni: 48 ore
Docente: Zuccato Chiara
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.
Informazioni sul programma
Ppt files and scientific articles will be available on Ariel 2.0 WebSite
Prerequisiti e modalità di esame
Oral examination
Metodi didattici
Traditional frontal lesson
Materiale didattico e bibliografia
Scientific articles and reviews
Secondo semestre
Secondo semestre
Modalità di valutazione
Giudizio di valutazione
voto verbalizzato in trentesimi
Su appuntamento
INGM Padiglione Invernizzi Via F. Sforza 35, 20122 Milano