Stem cells and genetic diseases

A.Y. 2020/2021
Overall hours
Learning objectives
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.
Expected learning outcomes
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.
Course syllabus and organization

Single session

Lesson period
Second semester
Classes will be held online via Zoom, synchronously or asynchronously. There will be weekly online sessions dedicated to student questions, discussion and insights on various topics. Recorded lessons will be made available on the Ariel web page of the course.
The exam (oral) will be carried out online (Zoom) and will be organised in order to:
- ascertain whether the course objectives in terms of knowledge and understanding have been met;
- ascertain the ability to apply knowledge through the discussion of the topics covered during classes;
- verify the appropriate use of scientific language relating to the field of genetics and the ability to present the topics in a clear and logical way, with the necessary links to the content of other courses of the degree course.
Course syllabus
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.
Prerequisites for admission
The student must possess basic concepts of general pharmacology, biochemistry and molecular biology.
Teaching methods
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.
Teaching Resources
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"
Assessment methods and Criteria
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.
BIO/14 - PHARMACOLOGY - University credits: 6
Lessons: 48 hours
Professor: Zuccato Chiara
by appointment previously agreed by e-mail
INGM, Padiglione Invernizzi, Via F. Sforza 35 4 piano Ala A