Molecular Diagnostics

Paper Code: 
24BTE225
Credits: 
02
Contact Hours: 
30
Objective: 

The objectives of this course are to sensitize students about recent advances in molecular biology and various facets of molecular medicine which has potential to profoundly alter many aspects of modern medicine including pre- or post-natal analysis of genetic diseases and identification of individuals predisposed to disease ranging from common cold to cancer.

 

Course Outcomes: 

Course

Course Outcomes

Learning and teaching strategies

Assessment Strategies

Course Code

Course Title

 

24BTE225

 

 

Molecular Diagnostics (Theory)

 

CO85: Correlate the role of genome in drug interaction and connect detection and identification of microbial diseases using genotypic markers

CO86: Design metabolite profile for biomarker detection

CO87: Use various genome resolution and detection tools in disease diagnosis

CO88: Devise methods to detect inherited disease

CO89: Identify methods for molecular oncology and quality assurance

CO90: Contribute effectively in course-specific interaction

Approach in teaching:

Interactive Lectures,

Demonstrations, Power point presentations

 

Learning activities for the students: Discussion,

Tutorials,

Assignments

Reading journals

Class test, Semester end examinations, Quiz, Solving problems in tutorials, Assignments, Presentation, Individual and group projects

 

8.00
Unit I: 
Genome Biology and Genome Resolution, Detection & Analysis

DNA, RNA, Protein: An overview; chromosomal structure & mutations; DNA polymorphism: human identity; clinical variability and genetically determined adverse reactions  to drugs.

PCR: Real-time; ARMS; Multiplex; ISH; FISH; ISA; RFLP; DHPLC; DGGE; CSCE; SSCP; Nucleic acid sequencing: new generations of automated sequencers; Microarray chips; EST; SAGE; microarray data normalization & analysis; molecular markers: 16S rRNA typing; Diagnostic proteomics: SELDI-TOF-MS; Bioinformatics data acquisition & analysis.

 

5.00
Unit II: 
Diagnostic Metabolomics

Metabolite profile for biomarker detection the body fluids/tissues in various metabolic disorders by using LCMS & NMR technological platforms.

 

5.00
Unit III: 
Detection and Identity of Microbial Diseases

Direct detection and identification of pathogenic-organisms that are slow growing or currently lacking a system of in vitro cultivation as well as genotypic markers of microbial resistance to specific antibiotics

5.00
Unit IV: 
Detection of Inherited Diseases

Exemplified by two inherited diseases for which molecular diagnosis has provided a dramatic improvement of quality of medical care: Fragile X Syndrome: Paradigm of new mutational mechanism of unstable triplet repeats, von-Hippel Lindau disease: recent acquisition in growing number of familial cancer syndromes.

 

7.00
Unit V: 
Molecular Oncology and Quality Assurance and Control

Detection of recognized genetic aberrations in clinical samples from cancer patients; types of cancer-causing alterations revealed by next-generation sequencing of clinical isolates; predictive biomarkers for personalized onco-therapy of human diseases such as chronic myeloid leukemia, colon, breast, lung cancer and melanoma as well as matching targeted therapies with patients and preventing toxicity of standard systemic therapies.

Quality oversight; regulations and approved testing.

 

ESSENTIAL READINGS: 

●        Campbell, A. M., & Heyer, L. J. (2006). Discovering Genomics, Proteomics,

●        and Bioinformatics. San Francisco: Benjamin Cummings.

●        Brooker, R. J. (2009). Genetics: Analysis & Principles. New York, NY: McGraw-Hill.

●        Glick, B. R., Pasternak, J. J., & Patten, C. L. (2010). Molecular Biotechnology:

●        Principles and Applications of Recombinant DNA. Washington, DC: ASM Press.

●        Coleman, W. B., & Tsongalis, G. J. (2010). Molecular Diagnostics: for the Clinical

Laboratorian. Totowa, NJ: Humana Press.

REFERENCES: 
  • Molecular Diagnostics: Fundamentals, Methods and Clinical Applications by Lela Buckingham
  • Molecular Diagnostics: Fundamentals, Methods and Clinical Applications

 

 

Academic Year: