Approcci per l'identificazione di bersagli farmacologici nelle malattie genetiche
A.Y. 2025/2026
Learning objectives
The course addresses the main phases that characterize the research path in the field of genetic
diseases, from basic research to in vivo preclinical research and the beginning of clinical trials. In
particular, through examples, we will address the main molecular, cellular and functional approaches
that allow us to understand dysfunctions and the mechanisms underlying genetic diseases and,
subsequently, identify new targets of therapeutic interest. Furthermore, current scientific issues will
be addressed regarding animal testing, the technological transfer of academic results, Research
Integrity and the importance of research support tools (funding, the peer-review process and
scientific dissemination).
diseases, from basic research to in vivo preclinical research and the beginning of clinical trials. In
particular, through examples, we will address the main molecular, cellular and functional approaches
that allow us to understand dysfunctions and the mechanisms underlying genetic diseases and,
subsequently, identify new targets of therapeutic interest. Furthermore, current scientific issues will
be addressed regarding animal testing, the technological transfer of academic results, Research
Integrity and the importance of research support tools (funding, the peer-review process and
scientific dissemination).
Expected learning outcomes
The course aims to provide students with the necessary tools to study genetic diseases at all stages
of the research process, from basic research to applied research for the development of new
therapeutic strategies. At the end of the course, the student will be able to: 1. Identify and understand
the main processes that characterize the different stages of basic research and applied research on
genetic diseases. 2. Apply this knowledge to choose the most suitable approaches and disease
models to study the various aspects related to genetic disease research and propose new solutions.
Apply this knowledge to choose the most suitable approaches and disease models to study the
various aspects related to the study of genetic diseases and propose new solutions. 3. Acquire
autonomy and judgment on current scientific topics and/or general interest issues related to the world
of research with society.
of the research process, from basic research to applied research for the development of new
therapeutic strategies. At the end of the course, the student will be able to: 1. Identify and understand
the main processes that characterize the different stages of basic research and applied research on
genetic diseases. 2. Apply this knowledge to choose the most suitable approaches and disease
models to study the various aspects related to genetic disease research and propose new solutions.
Apply this knowledge to choose the most suitable approaches and disease models to study the
various aspects related to the study of genetic diseases and propose new solutions. 3. Acquire
autonomy and judgment on current scientific topics and/or general interest issues related to the world
of research with 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) Genetic Approaches to Identify the Function of a Gene Associated with a Genetic Disease
-Forward Genetics
-Gene Targeting
-Gene Silencing
-Genome Editing
2) Identification of Pathogenetic Mechanisms
-Hypothesis-free Approach
-Hypothesis-driven Approach
3) Identification of New Drug Targets
-Development of In Vitro Biological Assays for Drug Screening Studies
-Primary and Secondary Screening: Advantages and Limitations
-Introduction to Combinatorial Chemistry, Structure-Activity Relationship, Molecular Modeling
-In Vitro and In Vivo Validation of Drug Targets
4) Preclinical Studies in Animal Models of Drug Candidates
-Animal Experimentation and Current Regulations
-How to Design a Preclinical Study
-How to Assess Treatment Efficacy in a Preclinical Trial
5) Drug Candidate Delivery Systems for BBB crossing in Animal Models
-Viral Vectors
-Nanosystems
-Osmotic Mini-pumps
-Intranasal Administration
7) Examples of Research & Development (preclinical studies) of candidate drugs
6) Clinical Studies in Patients
-From Preclinical Research to Clinical Trials
-Design and Phases of a Clinical Study: Examples
-Research and Use of Clinical, Biochemical, and Imaging Biomarkers
-Role of European and International Networks and Observational Studies
7) Intellectual Property and Start-Ups
-The Importance of Patents
-Requirements for Filing a Patent
-How to Enhance the Value of Academic Research
8) Research Funding, the Scientific Manuscript, and Research Integrity
-Forward Genetics
-Gene Targeting
-Gene Silencing
-Genome Editing
2) Identification of Pathogenetic Mechanisms
-Hypothesis-free Approach
-Hypothesis-driven Approach
3) Identification of New Drug Targets
-Development of In Vitro Biological Assays for Drug Screening Studies
-Primary and Secondary Screening: Advantages and Limitations
-Introduction to Combinatorial Chemistry, Structure-Activity Relationship, Molecular Modeling
-In Vitro and In Vivo Validation of Drug Targets
4) Preclinical Studies in Animal Models of Drug Candidates
-Animal Experimentation and Current Regulations
-How to Design a Preclinical Study
-How to Assess Treatment Efficacy in a Preclinical Trial
5) Drug Candidate Delivery Systems for BBB crossing in Animal Models
-Viral Vectors
-Nanosystems
-Osmotic Mini-pumps
-Intranasal Administration
7) Examples of Research & Development (preclinical studies) of candidate drugs
6) Clinical Studies in Patients
-From Preclinical Research to Clinical Trials
-Design and Phases of a Clinical Study: Examples
-Research and Use of Clinical, Biochemical, and Imaging Biomarkers
-Role of European and International Networks and Observational Studies
7) Intellectual Property and Start-Ups
-The Importance of Patents
-Requirements for Filing a Patent
-How to Enhance the Value of Academic Research
8) 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.
Professor(s)
Reception:
on appointment
Department of Biosciences, via celoria 26 (ground floor, A)