Stem cells and genetic diseases
A.A. 2020/2021
Obiettivi formativi
The course focusses on the steps that characterize the study of genetic diseases in order to identify new therapeutic strategies. The main objectives of the course are: i) to study the function of genes related to diseases; ii) to analyze in-vitro models used to study genetic disease with a specific focus on those based on stem cells; iii) to identify the methodological strategies to identify pathogenic mechanisms; iv) to describe pre-clinical studies in animal models, clinical studies, and validation of new drug targets; iv ) to describe new therapeutic approaches based on gene therapy and stem cells.
Risultati apprendimento attesi
At the end of the course students will have acquired knowledge about i) molecular tools and models to study disease genes; ii) strategies to identify and validate genetic-driven druggable targets; iii) the use of drug targets in drug screening assays; iv) the use of stem cells for understanding and treating genetic disorders; v) gene and cell-based therapies.
Periodo: Secondo semestre
Modalità di valutazione: Esame
Giudizio di valutazione: voto verbalizzato in trentesimi
Corso singolo
Questo insegnamento non può essere seguito come corso singolo. Puoi trovare gli insegnamenti disponibili consultando il catalogo corsi singoli.
Programma e organizzazione didattica
Edizione unica
Responsabile
Periodo
Secondo semestre
Le lezioni verranno svolte in modalità online attraverso piattaforma Zoom, in modo sincrono o asincrono. Sono previste sessioni settimanali online dedicate a domande degli studenti, discussione e approfondimenti sui vari argomenti. Le lezioni registrate sono rese sempre disponibili sulla pagina Ariel del corso.
L'esame in modalità orale verrà svolto in remoto e, in particolare, sarà volto a:
- accertare il raggiungimento degli obiettivi del corso in termini di conoscenza e capacità di comprensione;
- accertare la capacità di applicare conoscenza e comprensione e verificare l'autonomia di giudizio attraverso la discussione degli argomenti oggetto delle lezioni;
- accertare la padronanza del linguaggio specifico che attiene all'ambito della genetica e la capacità di esporre gli argomenti in modo chiaro e logico, con i dovuti collegamenti al contenuto di altri corsi di insegnamento del Corso di laurea.
L'esame in modalità orale verrà svolto in remoto e, in particolare, sarà volto a:
- accertare il raggiungimento degli obiettivi del corso in termini di conoscenza e capacità di comprensione;
- accertare la capacità di applicare conoscenza e comprensione e verificare l'autonomia di giudizio attraverso la discussione degli argomenti oggetto delle lezioni;
- accertare la padronanza del linguaggio specifico che attiene all'ambito della genetica e la capacità di esporre gli argomenti in modo chiaro e logico, con i dovuti collegamenti al contenuto di altri corsi di insegnamento del Corso di laurea.
Programma
The study of gene function: genetic and molecular strategies (CRISPRs, TALENs, ZFNs); the Evo-Devo approach.
In vitro models: immortalized cell lines, primary cultures and co-cultures; adult stem cells; hES and hiPS; stem cells differentiation into neural cell types using 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; 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.
Studies in patients; biomarkers for early diagnosis, follow-up of the progression of the disease and monitoring of therapeutic responses; clinical trials.
New therapeutic approaches and drug delivery strategies: RNAi as drugs; gene therapy; stem cell therapies; targeted drug delivery: nanoparticles, trojan horses and TAT-peptides.
In vitro models: immortalized cell lines, primary cultures and co-cultures; adult stem cells; hES and hiPS; stem cells differentiation into neural cell types using 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; 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.
Studies in patients; biomarkers for early diagnosis, follow-up of the progression of the disease and monitoring of therapeutic responses; clinical trials.
New therapeutic approaches and drug delivery strategies: RNAi as drugs; gene therapy; stem cell therapies; targeted drug delivery: nanoparticles, trojan horses and TAT-peptides.
Prerequisiti
The student must possess basic concepts of general pharmacology, biochemistry and molecular biology.
Metodi didattici
Interactive frontal lessons with Power-point-assisted slides and video; students are encouraged to attend and to actively participate; discussions are fostered to verify proper understanding, to stimulate critical thinking and to improve communication skills. Presented materials will be made available through the ARIEL platform.
Materiale di riferimento
Scientific articles and reviews will be provided. The students can also refer to "Stem Cell Genetics for Biomedical Research. Edited by Raul Delgado-Morales. Springer"
Modalità di verifica dell’apprendimento e criteri di valutazione
The exam consists of an oral test in which three topics (stem cells based models, drug development, pre-clinical assessment of drugs) are required to be covered.
Docente/i
Ricevimento:
su appuntamento concordato per email
INGM, Padiglione Invernizzi, Via F. Sforza 35 4 piano Ala A