| Course Name | Molecular Pathology |
| Course Code | 25CMD501 |
| Program | M. Sc. in Advanced Clinical and Molecular Diagnostics |
| Semester | 1 |
| Credits | 3 |
| Campus | Faridabad |
Unit 1:
Foundations of Molecular Pathology, Introduction to molecular pathology: scope and relevance, Central dogma of molecular biology and its relevance to disease, Molecular basis of disease: mutations, polymorphisms, and epigenetics, Types of molecular alterations (point mutations, deletions, translocations, amplifications), Overview of molecular techniques: PCR, qPCR, electrophoresis, blotting.
Unit 2:
Molecular Diagnostic Techniques, Nucleic acid extraction and quantification, PCR-based techniques: RT-PCR, qPCR, digital PCR, Next-Generation Sequencing (NGS): principles and applications, Microarrays and gene expression profiling, CRISPR and molecular editing tools in diagnostics.
Unit 3:
Molecular Oncology, Oncogenes, tumor suppressor genes, and cancer genomics, Molecular pathways in cancer (e.g., p53, RAS, Wnt), Molecular classification of tumors, Biomarkers in oncology: diagnostic, prognostic, and predictive, Companion diagnostics and targeted therapy.
Unit 4:
Molecular Pathology of Infectious Diseases, Pathogen detection using molecular techniques, Molecular epidemiology and strain typing, Drug resistance mechanisms and molecular surveillance, Case studies: Tuberculosis, HIV, HPV, and emerging infections, Point-of-care molecular diagnostics.
Unit 5:
Molecular Basis of Inherited and Rare Disorders, Inheritance patterns and mutation analysis, Molecular diagnostics in metabolic, neuromuscular, and hematologic disorders, Prenatal and newborn screening, Genotype-phenotype correlations, Ethical considerations in genetic testing.
Unit 6:
Molecular Pathology in Precision Medicine, Principles of precision medicine and personalized therapy, Biomarker discovery and validation, Liquid biopsy and circulating tumor DNA (ctDNA), Integration of omics data in clinical decision-making, Regulatory, ethical, and quality control issues in molecular diagnostics.
(45 classes)
Preamble
Molecular Pathology is an advanced course that introduces students to the molecular basis of disease. This course integrates molecular biology techniques with pathology to study the mechanisms of disease at the genetic and molecular levels. Topics include molecular diagnostics, biomarkers, gene expression profiling, and their clinical relevance in oncology, infectious diseases, and inherited disorders. Emphasis is placed on diagnostic and prognostic applications in precision medicine.
Course Outcome
CO1: To understand the principles of molecular pathology, mutations, polymorphisms, and epigenetics in relation to disease.
CO2: To gain proficiency in molecular diagnostic techniques like PCR, NGS, and CRISPR for genetic disease detection.
CO3: To explore molecular mechanisms in cancer, including oncogenes, tumor suppressors, and biomarkers for diagnosis and treatment.
CO4: To study molecular pathology in infectious diseases, including pathogen detection, drug resistance, and point-of-care diagnostics.
CO5: To understand the molecular basis of inherited disorders, mutation analysis, genotype-phenotype correlations, and ethical considerations.
CO6: To analyze the role of molecular pathology in precision medicine, focusing on biomarker discovery, liquid biopsy, and personalized therapy.
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
0 – No affinity; 1 – low affinity; 2 – Medium affinity; 3 – High affinity
| CO | PO1 | PO2 | PO3 | PO4 | PO5 | PO6 | PO7 | PO8 | PO9 | PO10 | PO11 | PO12 |
| CO1 | 3 | 1 | 1 | 2 | 1 | 2 | 3 | 0 | 0 | 0 | 0 | 3 |
| CO2 | 3 | 2 | 2 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| CO3 | 3 | 2 | 2 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| CO4 | 3 | 2 | 2 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| CO5 | 3 | 2 | 2 | 2 | 2 | 2 | 3 | 0 | 0 | 0 | 0 | 3 |
Program-specific outcome
PSO 1 – Emerging technologies in clinical diagnostics
PSO 2 – Biomolecules in Medicine
PSO 3 – Molecular dysregulation in diseases
PSO 4 – Molecular technology in diagnosis and therapy
PSO 5 – Applying lab discoveries to clinical practice
PSO 6 – Microorganisms in Medicine
PSO 7 – Statistical methods to interpret and validate diagnostic results
PSO 8 – Integrate molecular diagnostics into personalized medicine
PSO 9 – Compounds as biomarkers and its specificity
PSO 10 – Bioinformatics and biological data use
0 – No affinity; 1 – low affinity; 2 – Medium affinity; 3 – High affinity
| CO | PSO1 | PSO2 | PSO3 | PSO4 | PSO5 | PSO6 | PSO7 | PSO8 | PSO9 | PSO10 |
| CO1 | 3 | 1 | 1 | 1 | 1 | 0 | 0 | 2 | 0 | 0 |
| CO2 | 3 | 2 | 3 | 2 | 3 | 0 | 1 | 3 | 1 | 0 |
| CO3 | 3 | 3 | 3 | 3 | 3 | 0 | 1 | 2 | 0 | 0 |
| CO4 | 3 | 2 | 3 | 2 | 3 | 3 | 1 | 2 | 0 | 0 |
| CO5 | 3 | 3 | 2 | 2 | 2 | 0 | 0 | 3 | 0 | 0 |
Textbook
Coleman WB, Tsongalis GJ. Molecular Pathology: The Molecular Basis of Human Disease. 2nd ed. Academic Press; 2017.
Reference
Buckingham L, Flaws M. Molecular Diagnostics: Fundamentals, Methods and Clinical Applications. 2nd ed. F.A. Davis Company; 2014.
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