Pharmacogenomics and Biomarkers
A.Y. 2025/2026
Learning objectives
The objective of the course is to provide the students with the skills to understand the various aspects of pharmacogenomic, the basis for the design and optimization of orphan drugs for rare diseases, and how to identify novel biomarkers able to detect drug's efficacy. In addition, various aspects of molecular endocrinology, with special focus on endocrine biomarkers will be discussed.
Expected learning outcomes
At the end of the course, the student must be able to demonstrate that she/he has understood the basis of pharmacogenomics, the pharmacological basis and the rationale for orphan drugs design and optimization, and the process of discover and validation of novel disease biomarkers. In addition, students will have the skills to present clearly and with a proper language, and to correctly refer to information sources.
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
Lesson period
First semester
Course syllabus
Pharmacogenomics (4CFU):
-Introduction to Pharmacogenomics and Precision Medicine: definitions, objectives, and impact on precision medicine; genetic basis of interindividual variability in drug response: genetic polymorphisms and genotype/phenotype associations
-Influence of Polymorphisms on Drug Metabolism and Action: polymorphisms in genes for crucial drug-metabolizing enzymes (e.g., CYP2D6, CYP2C19, CYP2C9, TPMT, UGT1). Examples related to antiplatelet drugs, anticoagulants, immunosuppressants, and anticancer drugs. Polymorphisms in drug transporter and target genes: in-depth examples related to antidepressants, statins, and anti-asthmatics
-PharmGKB: guide to using the online resource Pharmacogenomics Knowledge Base and guided exercises
-Omics Data and their interpretation: functional enrichment analysis of omics data and guided exercises
-Epigenetic mechanisms and drug response: role of epigenetic mechanisms in modulating drug response; tools for studying miRNA-target gene interactions and guided exercises
-Integration of pharmacogenomics in clinical studies and regulation: precision oncology, immunology and immunomodulatory therapies, genetic and rare diseases; Good Clinical Practices (GCP), ethical and regulatory aspects
Pharmacological Biomarkers (3CFU):
· Definition of biomarker
· Biomarkers in pharmacology and drug development
· Biomarkers in cardiovascular diseases
· Biomarkers in neurology
· Biomarkers in oncology
Endocrine Biomarkers (2 CFU):
General concepts of endocrinology.
Hypothalamus-Pituitary-Adrenal gland axis: pathophysiology and biomarkers
Hypothalamus-Pituitary-Thyroid axis: pathophysiology and biomarkers
Hypothalamus-Pituitary-Gonadal axis: pathophysiology and biomarkers
Growth "axis": pathophysiology and biomarkers
Endocrine pancreas: pathophysiology and biomarkers
-Introduction to Pharmacogenomics and Precision Medicine: definitions, objectives, and impact on precision medicine; genetic basis of interindividual variability in drug response: genetic polymorphisms and genotype/phenotype associations
-Influence of Polymorphisms on Drug Metabolism and Action: polymorphisms in genes for crucial drug-metabolizing enzymes (e.g., CYP2D6, CYP2C19, CYP2C9, TPMT, UGT1). Examples related to antiplatelet drugs, anticoagulants, immunosuppressants, and anticancer drugs. Polymorphisms in drug transporter and target genes: in-depth examples related to antidepressants, statins, and anti-asthmatics
-PharmGKB: guide to using the online resource Pharmacogenomics Knowledge Base and guided exercises
-Omics Data and their interpretation: functional enrichment analysis of omics data and guided exercises
-Epigenetic mechanisms and drug response: role of epigenetic mechanisms in modulating drug response; tools for studying miRNA-target gene interactions and guided exercises
-Integration of pharmacogenomics in clinical studies and regulation: precision oncology, immunology and immunomodulatory therapies, genetic and rare diseases; Good Clinical Practices (GCP), ethical and regulatory aspects
Pharmacological Biomarkers (3CFU):
· Definition of biomarker
· Biomarkers in pharmacology and drug development
· Biomarkers in cardiovascular diseases
· Biomarkers in neurology
· Biomarkers in oncology
Endocrine Biomarkers (2 CFU):
General concepts of endocrinology.
Hypothalamus-Pituitary-Adrenal gland axis: pathophysiology and biomarkers
Hypothalamus-Pituitary-Thyroid axis: pathophysiology and biomarkers
Hypothalamus-Pituitary-Gonadal axis: pathophysiology and biomarkers
Growth "axis": pathophysiology and biomarkers
Endocrine pancreas: pathophysiology and biomarkers
Prerequisites for admission
none
Teaching methods
Active lessons
Teaching Resources
Slides presented during the lessons will be provided by the teachers
Assessment methods and Criteria
Teaching Unit of Pharmacogenomics. The exam is a 1-hour written test consisting of 30 multiple-choice questions. The test is designed to assess the in-depth understanding of the module's key concepts and the ability of students to apply them critically through questions requiring the interpretation, analysis, and application of the acquired knowledge.1 point will be awarded for each correct answer; 0 points for unanswered questions; -0.2 points for each incorrect answer. The exam is considered passed with a minimum score of 18. The final grade will also include the evaluation of an individual exercise (up to 3 points) carried out as an ongoing assessment.
Teaching unit Pharmacology Biomarkers. The exam consists of a written test comprising three open-ended questions covering all topics in the course program.
Teaching Unit Endocrine Biomarkers. The exam consists of an oral test during which the level of knowledge of the concepts described during the course will be assessed; the property of language and the ability to comprehensively describe endocrine biomarkers and their context will be assessed as well. The vote is expressed in thirtieths.
Teaching unit Pharmacology Biomarkers. The exam consists of a written test comprising three open-ended questions covering all topics in the course program.
Teaching Unit Endocrine Biomarkers. The exam consists of an oral test during which the level of knowledge of the concepts described during the course will be assessed; the property of language and the ability to comprehensively describe endocrine biomarkers and their context will be assessed as well. The vote is expressed in thirtieths.
BIO/14 - PHARMACOLOGY - University credits: 7
MED/13 - ENDOCRINOLOGY AND METABOLISM - University credits: 2
MED/13 - ENDOCRINOLOGY AND METABOLISM - University credits: 2
Lessons: 72 hours
Professor(s)