Stem cells and genetic diseases

A.A. 2018/2019
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
Ppt presentation and videos

Reference Material
Scientific articles and reviews
Secondo semestre
Modalità di valutazione
Giudizio di valutazione
voto verbalizzato in trentesimi
Su appuntamento
INGM Padiglione Invernizzi Via F. Sforza 35, 20122 Milano