Stem Cells and Genetic Diseases
A.Y. 2024/2025
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.
Lesson period: Second semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Lesson period
Second semester
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). Preclinical studies.
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.
Advanced therapy medicinal products: gene therapy medicinal products; somatic cell therapy medicinal products; tissue-engineered medicinal products; medicinal products for combined advanced therapies.
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). Preclinical studies.
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.
Advanced therapy medicinal products: gene therapy medicinal products; somatic cell therapy medicinal products; tissue-engineered medicinal products; medicinal products for combined advanced therapies.
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 are required to be covered. The duration of the oral test is 30 minutes.
The exam 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 pharmacology and 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.
The exam 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 pharmacology and 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.
Professor(s)
Reception:
by appointment previously agreed by e-mail
INGM, Padiglione Invernizzi, Via F. Sforza 35 4 piano Ala A