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Course Detail

Course Name Pharmacogenomics and Personalized Medicine
Course Code 25CLG514
Program M. Sc. Clinical Genomics
Semester 2
Credits 3
Campus Kochi

Syllabus

Unit 1

Unit 1: Foundations of Pharmacogenomics and Personalized Medicine

(10 lectures)

What is personalized medicine? Why is it important? Basics of pharmacogenetics and pharmacogenomics. Genetic and non-genetic factors influencing disease development and drug response. Influence of environment and lifestyle on genome and drug response. Ethical, legal, and social issues in personalized medicine.

Unit 2

Unit 2: Genetic Basis of Drug Response

(12 lectures)

Genetic polymorphisms affecting drug-metabolizing enzymes (e.g., CYP450s). Transporters and drug targets: SLCO1B1, ABC transporters, VKORC1, HER2. Pharmacogenomic biomarkers: FDA-approved examples. HLA typing and adverse drug reactions (e.g., abacavir, carbamazepine). Drug-gene interaction databases and clinical decision support systems. Role of ethnicity in pharmacogenomic variations.

Unit 3

Unit 3: Clinical Applications of Pharmacogenomics

(12 lectures)

Cancer precision therapy: EGFR, ALK, BRAF mutations. Pharmacogenomics in cardiovascular diseases: Warfarin, Clopidogrel. Pharmacogenomics in psychiatry: Antidepressants, antipsychotics (e.g., CYP2D6, CYP2C19). Infectious diseases: HIV, Hepatitis pharmacogenomics. Neurology: Pharmacogenomics of epilepsy treatment. Regulatory aspects: Companion diagnostics and guidelines (FDA, EMA, CPIC, PharmGKB).

Unit 4

Unit 4: Future Directions and Challenges

(8 lectures)

Next-generation sequencing and future technologies. Epigenomics and pharmacoepigenomics: Role in drug response. Microbiome and personalized medicine. Artificial intelligence and big data in pharmacogenomics. Emerging biomarkers and novel drug targets. Future directions in personalized medicine

Introduction

(45 Classes)

Preamble

Personalized Medicine is an evolving very essential aspect of healthcare. Due to the wealth of information on the molecular basis of disease, mechanisms by which how drugs work led to development of this area in recent years. As a result, tailored disease specific strategies have been developed that takes into account variability in genes, environment, and lifestyle for each person. However, translating this knowledge is essential by understanding biological and scientific insights into advanced therapies and diagnostic tools.

Objectives and Outcomes

Course Outcome

CO1: Explain why individual genetic and biochemical variations are crucial in disease treatment and drug response.

CO2: Understand the impact of genome variability, transcriptomics, and other ‘omics’ in shaping personalized therapies.

CO3: Analyze the role of genetic and epigenetic modifications in disease mechanisms and therapeutic interventions.

CO4: Evaluate pharmacogenomic principles to predict drug efficacy and toxicity.

CO5: Demonstrate the ability to interpret genomic data using bioinformatics and integrate it into personalized healthcare strategies.

CO6: Understand cutting-edge developments like mRNA therapeutics, gene editing, and AI-based predictive models in pharmacogenomics.

Program Outcome

PO1: Bioscience Knowledge

PO2: Problem Analysis

PO3: Design/Development of Solutions

PO4: Conduct Investigations of complex problems

PO5: Modern tools usage

PO6: Bioscientist and Society

PO7: Environment and Sustainability

PO8: Ethics

PO9: Individual & Team work

PO10: Communication

PO11: Project management & Finance

PO12: Lifelong learning

3 = High Affinity, 2 = Medium Affinity, 1 = Low Affinity, – = No Affinity

CO–PO Mapping Table:

COs PO1 PO2 PO3 PO4 PO5 PO6 PO7 PO8 PO9 PO10 PO11 PO12
CO1 3 3 2 2 3 2 2
CO2 3 3 2 2 3 2 3
CO3 3 3 2 3 3 3 3 3
CO4 3 3 3 3 3 3 3 2
CO5 3 3 3 3 3 3 3 2 2 3
CO6 3 3 3 3 3 2 2 3

Program Specific Outcomes (PSO):

PSO1. Apply fundamental molecular biology principles to interpret clinical genomic data.
PSO2. Use molecular techniques (e.g., PCR, RT-PCR, sequencing) to detect genetic mutations and biomarkers.
PSO3. Analyze genotype-phenotype correlations in inherited and acquired disorders.
PSO4. Identify pathogenic variants from NGS data and interpret their clinical relevance.
PSO5. Correlate molecular pathways with disease mechanisms and therapeutic targets.
PSO6. Develop and validate diagnostic assays based on molecular biology principles.
PSO7. Utilize molecular biology to support pharmacogenomic profiling and therapy optimization.
PSO8. Integrate multi-omic data (genomic, transcriptomic, epigenomic) for personalized health solutions.
PSO9. Apply molecular knowledge to cancer genomics, infectious diseases, and rare genetic disorders.
PSO10. Translate molecular discoveries into clinical interventions through evidence-based practice.

CO–PSO Mapping Table:

COs PSO1 PSO2 PSO3 PSO4 PSO5 PSO6 PSO7 PSO8 PSO9 PSO10
CO1 3 3 3 3 2
CO2 3 3 3 3 3 2
CO3 3 3 3 3 3 2
CO4 3 3 3 3 3 2
CO5 3 3 3 3 3 3 3 3
CO6 3 2 3 3 3 3

Evaluation Pattern

Evaluation Pattern: 50+50 = 100

Internal Assessment – 50%
Periodical 1 Exam 20%
Periodical 2 Exam 20%
Continuous Assessment Assignment/Test/Quiz 10%
50%
End Semester Examination- 50%
Theory Exam 50%
50%
Total 100%

Textbook/ References

Textbook

  1. Genomic and Precision Medicine: Foundations, Translation, and Implementation (2016); by Geoffrey S. Ginsburg (Editor), Huntington F Willard.
  2. Personalizing Precision Medicine: A Global Voyage from Vision to Reality Author: Kristin ciriello Pothier (2017) by Wiley.

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