MOLECULAR DIAGNOSIS

Paper Code: 
24DBTE803
Credits: 
04
Contact Hours: 
60
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.

 

 

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.

 

 

10.00
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: 

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

●Molecular Diagnostics: Fundamentals, Methods and Clinical Applications

 

Academic Year: 
2024-2025
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