Cellular, Molecular and Functional Approaches to Genetic Disease
A.Y. 2024/2025
Learning objectives
The aim of the course is to highlight the different phases that characterize the study of genetic diseases to identify targets of intervention and develop novel therapeutic strategies. We will discuss about: i) identification and function of genes related to genetic disorders; ii) the use and choice of in vitro and in vivo disease models; iii) strategies to identify pathogenic mechanisms and new drug targets; iv) identification of pharmacological targets and development of new drugs; v) Animal research and preclinical studies; vi) innovative systems of "delivery" of drugs or molecules by means of viral vectors and nano-carriers; vii) clinical studies in patients. In addition, current scientific issues relating to animal testing, technological transfer of academic results, Research Integrity and the importance of research support tools (funding, peer-review process and scientific dissemination) will be addressed.
Expected learning outcomes
The course aims to provide students with the tools necessary to study genetic diseases. In particular, at the end of the course, the student will be able to:
1. Identify and understand the main processes that characterize the different phases of basic research and research applied to genetic diseases.
2. Apply this knowledge to choose the most suitable approaches and disease models to study the different aspects concerning the study of genetic diseases and propose new solutions.
3. Acquire autonomy and judgment on current scientific issues and / or of general interest concerning the world of research with respect to society.
1. Identify and understand the main processes that characterize the different phases of basic research and research applied to genetic diseases.
2. Apply this knowledge to choose the most suitable approaches and disease models to study the different aspects concerning the study of genetic diseases and propose new solutions.
3. Acquire autonomy and judgment on current scientific issues and / or of general interest concerning the world of research with respect to society.
Lesson period: First 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
First semester
Course syllabus
1. How to use and choose Disease Models
· In vitro models (immortalized cells, primary cultures, co-cultures; inducible systems, stem cells)
· Ex-vivo models (organotypic slices and organoids)
· In vivo models (invertebrate and small vertebrate models, rodent models, large animal models)
2. The study of gene function
· Direct and inverse genetic approaches
· Genome Editing
3. Strategies to identify new pathogenetic mechanisms
· Hypothesis-free approach
· Hypothesis-driven approach
4. Identification of novel pharmacological targets
· Development of biological assays for drug screening
· High Throughput Screening, combinatorial chemistry, structure-activity relationship, molecular modeling etc
· Validation of the biological target in vitro e in vivo
· How drugs are developed and approved
5. Preclinical studies in animal models
· Animal research: the European and Italian laws
· How to design a preclinical study
· How to assess the efficacy of a treatment in a preclinical trial
6. Delivery systems of drugs or molecules in animal models
· Viral vectors
· Liposomes and nanoparticles
· Infusion of drugs or molecules by means of osmotic mini-pumps
· Intra-nasal delivery of drugs or molecules
7. Clinical trials in patients
· Translation of preclinical studies into clinical trials
· Design and phases of a clinical trial
· Research of clinical, biochemical and imaging biomarkers
· European and international networks and observational studies
8. Intellectual Properties and the value of the Start-up.
9. Beyond the bench: research funding, the scientific manuscript and Research Integrity
· In vitro models (immortalized cells, primary cultures, co-cultures; inducible systems, stem cells)
· Ex-vivo models (organotypic slices and organoids)
· In vivo models (invertebrate and small vertebrate models, rodent models, large animal models)
2. The study of gene function
· Direct and inverse genetic approaches
· Genome Editing
3. Strategies to identify new pathogenetic mechanisms
· Hypothesis-free approach
· Hypothesis-driven approach
4. Identification of novel pharmacological targets
· Development of biological assays for drug screening
· High Throughput Screening, combinatorial chemistry, structure-activity relationship, molecular modeling etc
· Validation of the biological target in vitro e in vivo
· How drugs are developed and approved
5. Preclinical studies in animal models
· Animal research: the European and Italian laws
· How to design a preclinical study
· How to assess the efficacy of a treatment in a preclinical trial
6. Delivery systems of drugs or molecules in animal models
· Viral vectors
· Liposomes and nanoparticles
· Infusion of drugs or molecules by means of osmotic mini-pumps
· Intra-nasal delivery of drugs or molecules
7. Clinical trials in patients
· Translation of preclinical studies into clinical trials
· Design and phases of a clinical trial
· Research of clinical, biochemical and imaging biomarkers
· European and international networks and observational studies
8. Intellectual Properties and the value of the Start-up.
9. Beyond the bench: research funding, the scientific manuscript and Research Integrity
Prerequisites for admission
Good knowledge of basic cellular and molecular biology is required.
Teaching methods
Frontal lessons and seminars on specific topics; The students will be involved to actively participate in the discussion to improve their critical skills, reworking the concepts acquired and communicating the concepts appropriately.
Teaching Resources
PDF material (loaded in ARIEL) that includes: ppt slides described during the lessons, Research and review articles concerning the topics.
Reference Book (for the basic concepts discussed during the course): Molecular Biology of the Cell by Alberts - Lewis - Morgan - Raff - Roberts - Walter - Pagano
Reference Book (for the basic concepts discussed during the course): Molecular Biology of the Cell by Alberts - Lewis - Morgan - Raff - Roberts - Walter - Pagano
Assessment methods and Criteria
The assessment method consists in an oral exam with specific questions to check knowledge, understanding, correctness and appropriateness of the language and with questions of reasoning and connection between the various topics addressed during the course. In particular, the exam aims 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 the course.
- verify the appropriate use of scientific language and the ability to present the topics in a clear and logical way, with the necessary links to the different topics discussed during the course.
The assessment of the exam is expressed out of thirty.
- 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 the course.
- verify the appropriate use of scientific language and the ability to present the topics in a clear and logical way, with the necessary links to the different topics discussed during the course.
The assessment of the exam is expressed out of thirty.
Educational website(s)
Professor(s)