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Course Detail

Course Name Molecular Basis of Diseases
Course Code 25CLG515
Program M. Sc. Clinical Genomics
Semester 2
Credits 3
Campus Kochi

Syllabus

Unit 1

(Lectures 10)

Introduction to Genomics: Genome structure and function (DNA, RNA, genes, and regulatory elements), Human genome and variation (e.g., SNPs, CNVs). Epigenomics (DNA methylation, histone modifications, and their role in gene regulation). Transcriptomics (Gene expression and RNA sequencing).

Unit 2

(Lectures 8)

Molecular basis of Cell cycle, differentiation and death.

Unit 3

(Lectures 4)

Monogenic and polygenic disorders

Unit 4

(Lectures 8)

Cancer genomics (driver mutations, oncogenes, tumor suppressor genes), Consequence of these mutations in the protein level.

Unit 5

(Lectures 5)

Microbial genomics and its role in infectious diseases.

Unit 6

(Lectures 5)

Role of genomics in complex diseases (e.g., diabetes, cardiovascular diseases, neurodegenerative diseases, autoimmune diseases, pulmonary and thrombotic diseases).

Unit 7

(Lectures 5)

From Molecular Mechanisms to Therapeutic Opportunities for cancer and neurodegenerative diseases. Utility of identified molecules as biomarkers related to disease. Translational importance of the identified biomarkers in the diagnosis, prognosis and identification of drug targets leading to development of diagnostics and therapeutics.

Introduction

Pre-requisites: Understanding the genetic and microbial diseases at molecular level.

Total number of classes: 45

Objectives and Outcomes

Course Outcome

CO1 Students will develop a comprehensive understanding of how molecular changes in the DNA influencing protein function.

CO2 Students will develop an understanding about basis of cell function and how many diseases are coupled with cell cycle differentiation and death.

CO3 Students will gain an understanding about disorders arising due to polygenic and monogenic changes.

CO4: Students will demonstrate an understanding about cancer genomics and the consequence of mutations in gene and its effect in various disorders.

CO5: Students will develop an understanding on how molecular mechanisms and pathways are harnessed to develop therapies. 

Programme Outcomes (PO)

(As given by NBA and ABET)

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

CO–PO Mapping Table:

COs

PO1

PO2

PO3

PO4

PO5

PO6

PO7

PO8

PO9

PO10

PO11

PO12

CO1

3

2

2

2

2

2

3

CO2

3

3

2

2

2

CO3

3

3

2

3

2

3

CO4

3

3

2

3

3

2

3

3

CO5

3

3

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 pharmacogenomics profiling and therapy optimization.

PSO8. Integrate multi-omic data (genomic, transcriptomic, epigenetic) 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

2

2

CO2

3

2

2

CO3

3

3

2

2

CO4

3

3

2

2

3

3

CO5

3

3

2

3

3

3

2

2

3

Textbook

  • William B Coleman, Gregory Tsongalis, Molecular Pathology – The Molecular Basis of Human Disease, Academic Press, 2018

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%

 

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