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Advanced Molecular Diagnostics in Infectious Diseases and Genetic Testing

Explore the cutting-edge applications of molecular diagnostics in infectious diseases and genetic testing. This overview covers specific testing categories including analysis of bacterial and viral genes, pharmacogenomics, and genetic variations such as autosomal dominant and recessive traits. Additionally, delve into the utility of techniques like PCR for rapid microbial detection and genetic research. Learn about various infections, hereditary conditions, and the implications of genetic markers in personalized medicine, providing insights into effective disease management.

raphael-delacruz
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Advanced Molecular Diagnostics in Infectious Diseases and Genetic Testing

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  1. Clinical Applications

  2. Testing Categories • Molecular Diagnostic Labs • Infectious diseases • Bacterial, viral genes • Genetic testing • Autosomal dominant/recessive • Heterozygous, Homozygous • Wild-type vs. Mutant vs. Carrier • Pharmacogenomics or pharmacogenetics • Subsection of genetic testing • Genes affecting drug metabolism

  3. Infectious Diseases • MRSA • VRE • Group A Strep • Group B Strep • TB • HIV • HCV • CMV • Flu • Stop me when you’re bored…

  4. Autosomal Dominant PP Pp • Achondroplasia • Antithrombin deficiency • Cleft Chin • Familial hypercholesterolemia • Facioscapulohumeral muscular dystrophy • Hereditary spherocytosis • Huntington's Disease • Hypertrophic cardiomyopathy • Malignant hyperthermia • Marfan Syndrome • Neurofibromatosis • Pfeiffer syndrome • Polycystic Kidney Disease

  5. Autosomal Recessive • Cystic fibrosis • Tay-Sachs disease • Chronic granulomatous disease • Thalassemia • Alpha 1-antitrypsin deficiency • Haemochromatosis types 1-3 • Wilson's disease • Homocystinuria • Galactosemia • Glucose-6-phosphate dehydrogenase deficiency • Phenylketonuria • Albinism • Certain forms of Spinal muscular atrophy • Xeroderma pigmentosum pp

  6. Pharmacogenetics • Warfarin metabolism • Polymorphisms • VKORC1 • Vitamin K epoxide reductase complex 1 • CYP2C9 • Part of cytochrome P450 family • FDA testing recommended

  7. Applications of PCR DNA? RNA? PCR? • Ubiquitous • PCR, qRT-PCR, RT-PCR • Current utility: • High level sensitivity/specificity • Rapid, specific microbial detection • Some cancers • Genetic diseases • Test development/research limiting factors

  8. Example: MRSA • Coagulase positive Staphylococcus sp. • Case confirmed ICU via standard methods • 2 cases confirmed on other wards earlier • How would PCR be useful? • Rapid confirmation of MRSA on ICU pt • Investigate genetic connections • Environmental testing for infection control

  9. Example: Bcl-2 • Translocation of Bcl-2 gene • 18 to 14 at Ig heavy chain locus • Overproduction of Bcl protein • Apoptosis is hindered leading to neoplasia • Follicular lymphoma • PCR application • Use 2 different primers to catch t(14:18) • Bcl-2 and JH (heavy chain)

  10. Example: Bcl-2

  11. Example: Bioterrorism • Mysterious white powder • PCR application • Use primers/probes - R/O malevolent incident • Check for B. anthracis virulence factors • LF, PA, EF, and CAP (poly-D-glutamyl capsule via pXO2)

  12. Virtual Tour

  13. Test Menu • HPV (high risk) • HIV load • HCV qual. • CMV • B. henselae • M. tuberculosis • CF screen • Sex determination • HEMONC • TCR Gamma rearrangement • BCR/ABL qual./quant. • BCL-2 translocation • FVL (FV R506Q) • PT G20210A

  14. Clean Room

  15. Clean (cont.)

  16. Clean (cont.)

  17. Pre-Room

  18. Pre-Room (cont.)

  19. Pre-Room (cont.)

  20. Pre-Room (cont.)

  21. Post-Room

  22. Post-Room (cont.)

  23. Post-Room (cont.)

  24. Post-Room (cont.)

  25. Post-Room (cont.)

  26. Post-Room (cont.)

  27. Post-Room (cont.)

  28. Digene Hybrid Capture II Technology • HPV (high risk) • Combination of technologies • Classic sandwich • Denature DNA • Hybridize to RNA probe • Capture hybrids • React w/ tagged Abs • Add Chemiluminescent substrate • Detect signal

  29. Summary • History and basics of molecular biology • Various Molecular Techniques • Clinical applications

  30. Multimedia Refresher https://kx.afms.mil/labreadinessskills

  31. Multimedia Refresher

  32. Questions

  33. Graphics References • http://www.linnaeus.uu.se • http://www.vetmed.uni-giessen.de • http://www.devicelink.com • http://www.people.virginia.edu • http://www.msu.edu • http://www.mie.utoronto.ca • http://www.concord.org • http://www.rothamsted.bbsrc.ac.uk • http://www.carkanmoil.com • http://www1.qiagen.com

  34. Graphics References (cont.) • http://textbookofbacteriology.net • http://www.vet.ed.ac.uk • http://nitro.biosci.arizona.edu • http://wikipedia.org • http://www.blobs.org • http://www8.georgetown.edu • http://www.offthemarkcartoons.com • http://www.cartoonstock.com • http://depts.washington.edu • http://www.cdphe.state.co.us • http://content.answers.com

  35. Graphics References (cont.) • http://www.edisonticker.com/ • http://www.lionden.com/ • http://www.dadamo.com/wiki/ • http://distancelearning.ksi.edu/demo/bio378/ • http://www.cnx.org/ • http://www.bact.wisc.edu/ • http://kconline.kaskaskia.edu/bcambron/ • http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/ • http://kvhs.nbed.nb.ca/gallant/biology/ • http://biochem.ncsu.edu/faculty/maxwell/

  36. Graphics References (cont.) • http://ghs.gresham.k12.or.us/science • http://fig.cox.miami.edu/~cmallery/255/255chem/ • http://maxiangru.blogspot.com/ • http://www.thetutorstudio.com/ • http://www.sciencecartoonsplus.com/ • Genes VIII, Pearson/Prentice Hall http://www.ergito.com • Concepts of Genetics, Pearson/Prentice Hall

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