Cellular, molecular and functional approaches to genetic disease

A.Y. 2021/2022
Overall hours
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.
Course syllabus and organization

Single session

Lesson period
First semester
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
Course syllabus
1. The study of gene function
· Direct and inverse genetic approaches; Genome Editing

2. 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)

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,molecular modeling
· 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
Assessment methods and Criteria
The examination procedure will be oral with specific questions about the various topics covered during the course to verify the level of acquisition of knowledge and skills. 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 classes;
- 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.
BIO/14 - PHARMACOLOGY - University credits: 6
Lessons: 48 hours
Professor: Valenza Marta