Cellular, Molecular and Functional Approaches to Genetic Disease
A.Y. 2018/2019
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) generation and use of in vitro and in vivo disease models; iii) strategies to identify pathogenic mechanisms and new drug targets; iv) Animal research and preclinical studies; v) innovative systems of "delivery" of drugs or molecules by means of viral vectors and nano-carriers; vi) clinical studies in patients; vii) examples of new therapeutic approaches based on gene silencing, stem cells and immunotherapy.
Expected learning outcomes
Undefined
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Single session
Responsible
Course syllabus
1. The study of gene function
· Direct and inverse genetic approaches
· Genome Editing
· Evo-Devo approach
2. 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, structure-activity relationship, molecular modeling etc
· Principles of pharmacogenomics
· 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
7. Clinical trials in patients
· Translation of preclinical studies into clinical trials
· Design and phases of a clinical trial
· Research of biochemical and imaging biomarkers
· European and international networks and observational studies
8. Innovative therapies
· Gene silencing
· Stem cell-based approaches
· Immunotherapy
9. Behind the bench
· Research funding
· The publication of research data
· Research Integrity
· Science communication
Tutorials
Research and review articles concerning the topics
Reference Material
Teacher' slides, Research and review articles related to the topics of the course (all material will be deposited in Ariel).
Prerequisites and examination procedures
Good knowledge of basic cellular and molecular biology is required. 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.
Teaching Methods
Frontal lessons and seminars on specific topics; Attendance: recommended.
Language of instruction
Italian
Program information
The lessons in pdf format and other material of interest will be available on the ARIEL website of the teacher.
WEB pages
http://mvalenzaACMFMG.ariel.ctu.unimi.it/
· Direct and inverse genetic approaches
· Genome Editing
· Evo-Devo approach
2. 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, structure-activity relationship, molecular modeling etc
· Principles of pharmacogenomics
· 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
7. Clinical trials in patients
· Translation of preclinical studies into clinical trials
· Design and phases of a clinical trial
· Research of biochemical and imaging biomarkers
· European and international networks and observational studies
8. Innovative therapies
· Gene silencing
· Stem cell-based approaches
· Immunotherapy
9. Behind the bench
· Research funding
· The publication of research data
· Research Integrity
· Science communication
Tutorials
Research and review articles concerning the topics
Reference Material
Teacher' slides, Research and review articles related to the topics of the course (all material will be deposited in Ariel).
Prerequisites and examination procedures
Good knowledge of basic cellular and molecular biology is required. 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.
Teaching Methods
Frontal lessons and seminars on specific topics; Attendance: recommended.
Language of instruction
Italian
Program information
The lessons in pdf format and other material of interest will be available on the ARIEL website of the teacher.
WEB pages
http://mvalenzaACMFMG.ariel.ctu.unimi.it/
Professor(s)