OVERVIEW

Pharmacogenetics and pharmacogenomics are pharmacological disciplines that study the genetic basis of individual variability in drug response. They are crucial for personalized medicine, an innovative approach that aims to optimize drug treatment on the basis of patient's individual characteristics in order to target therapies and thus minimize adverse reactions.

AIMS AND CONTENT

LEARNING OUTCOMES

The aim of this course is to provide the students with knowledge about fundamental concepts of Pharmacogenomics and Pharmacogenetics. The course will be focused to study the changes of cellular and molecular mechanisms which regulate the different pharmacological responses. Moreover, the course will underline the most interesting progresses in therapy due to this new potential pharmacological approach and the possible future therapeutic development.

AIMS AND LEARNING OUTCOMES

The teaching aims to provide students with the necessary knowledge to understand the mechanisms underlying the variability in drug response due to individuals' genetic characteristics.

In detail, the teaching aims to:

- describe the impact of genetic polymorphisms on the expression and activity of drug targets, such as receptors, and of proteins involved in drug absorption, distribution, metabolism and excretion;

- to analyze the effects of genetic variability on the variability of responses to drug treatments within a population and the link with toxic effects or therapeutic inefficacy, with reference to specific diseases and their therapies

- underline the importance of using pharmacogenetic tests in clinical practice for correct therapy design

The main drugs used in gene therapy and their importance in personalized medicine will also be described.

At the end, the student will have to:

- understand the relationship between genetic variability and variability in drug response, taking into account both polymorphisms in genes coding for proteins involved in pharmacokinetic processes and polymorphisms in genes coding for drug targets

- be able to recognize the impact of polymorphisms on the structure and activity of proteins involved in drug activity, highlighting their consequences at molecular and clinical levels

- understand the importance of pharmacogenetics and gene therapy in personalized medicine

- use scientific language appropriate to the discipline

PREREQUISITES

Knowledge of genetics, molecular biology and pharmacology is useful for a proper understanding of the topics

TEACHING METHODS

The course comprises 2.5 CFU, corresponding to 10 lectures of about two hours. During the lectures, students will be involved in discussions with questions and scientific reasoning to assess their level of knowledge and understanding of the topics covered.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, should contact the Lecturer and the dedicated SLD Representative in the Department before class begins, in order to decide the specific teaching methods so that the learning aims and outcomes may be met.

SYLLABUS/CONTENT

Introduction to pharmacogenetics and pharmacogenomics: interindividual variability in drug response and personalized medicine.

Genetic polymorphisms (single nucleotide polymorphisms, deletions, copy number variation) and possible impact on protein function.

Polymorphisms in genes coding for proteins involved in drug metabolism: CYP2D6, CYP2C9, CYP2C19 and NAT-2

Polymorphisms in genes coding for proteins involved in drug transport: P-glycoprotein and OATP1B1

Polymorphisms in genes coding for drug target proteins: ß2 adrenergic receptors and asthma therapy; m opioid receptors and pain therapy; serotonin transporter and depression therapy.

HLA gene polymorphisms and adverse drug reactions.

Examples of tools used in the clinic to highlight possible pharmacogenetic adverse drug reactions: PharmaGKB

Gene therapy using in vivo and ex vivo approaches: CarT cells, ASOs, siRNAs, miRNAs, aptamers, ribozymes and DNAzymes.

Potential of epigenetic drugs and the CRISPR/Cas9 system in medicine.

RECOMMENDED READING/BIBLIOGRAPHY

The slides related to the teaching programme will be shared on Aulaweb and are sufficient for the study. These slides will also contain bibliographical references of articles in the scientific literature that will be discussed in class.

TEACHERS AND EXAM BOARD

Exam Board

GUENDALINA OLIVERO (President)

ANNA MARIA PITTALUGA (President)

TIZIANA BONIFACINO

LESSONS

LESSONS START

Classes will be held in the second semester; they will begin as timetable prepared by the competent Teaching Secretariat.

The timetable for this course is available here: Portale EasyAcademy.

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The examination will consist of an oral test. Students will be asked to prepare and discuss a powerpoint presentation on a topic related to the teaching. This will be the starting point for checking the level of preparation with regard to the topics addressed in the course.

ASSESSMENT METHODS

The final mark will take into account the level of preparation, the reasoning skills and the ability to link subjects within the teaching, as well as the use of a proper scientific language.

FURTHER INFORMATION

Please contact the lecturer for further information.