MOLECULAR DIAGNOSIS

Paper Code: 
DBTE 803
Credits: 
4
Contact Hours: 
60
Objective: 

Course Outcomes

Learning and teaching strategies

Assessment Strategies

Upon completion of the course the learner will:

CO108: Correlate the role of Genome in drug interaction

CO109: Use various Genome resolution and detection tools in disease diagnosis

CO110: Design metabolite profile for biomarker detection

CO111: Connect detection and identification of Microbial Diseases using genotypic markers

CO112: Devise methods to detect inherited disease

CO113: Identify methods for molecular Oncology and quality assurance

Class lectures

Seminars

Tutorials

Group discussions and Workshops

Question preparation

 

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

 

16.00
Unit I: 
Genome Biology, 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.

8.00
Unit II: 
Diagnostic Metabolomics

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

12.00
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.

10.00
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.

14.00
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: 

SUGGESTED READING:

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

·   Molecular Diagnostics: Fundamentals, Methods and Clinical Applications

e-RESOURCES:

·     https://www.youtube.com/watch?v=EB5xA2iytWM

JOURNALS:

·         Analytical and Bioanalytical Chemistry, Springer

·         Trends in Analytical Chemistry, Elseviers

 

Academic Year: 
2023-2024
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