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Delve into the breakthroughs of DNA sequencing and PCR amplification, uncovering how structural genomics provide replication mechanisms. Discover the significance of cell cycle checkpoints in preventing cancer and explore genetic disease diagnosis and preventive and drug therapies. Learn about paradigm shifts in biomedical research towards individualized medicine through functional assays and bioinformatics, proteomics, and imaging informatics. Get insights into gene discovery, DNA replication, and cell cycle processes.
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“It has not escaped our attention that the structure provides a mechanism for replication”
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Two breakthroughs DNA Sequencing Yellowstone
Spooling DNA • Open top of the bottle marked DNA. • Open top of the bottle marked Alcohol • Pour alcohol (full bottle) into DNA • Insert wooden end of toothpick into liquid • Twirl stick You are spooling DNA! • You can repeat this experiment by taking • the DNA and placing it in water and a pinch • of table salt. Let redissolve, add alcohol and • repeat
Over 1000 organism’s genomes have been sequenced 599 viruses 205 plasmids 185 organelles 3 eubacteria 7 archae 1 fungus (yeast) 2 animals (worm and fly) 1 plant (Arabadopsis) 1 mammal (human)
Species Number of genes Bacteria (E. coli) 4,000 Fungi (S. cerevisiae) 6,000 Worm (C. elegans) 20,000 Fly (Drosophila) 12-14,000 Plant (Arabidopsis) 25,000 Mouse 30,000 Human 30,000
The Discovery of Cell Cycle Checkpoints Checkpoint mutants: Live Hard and Die Fast
Cell Cycle Checkpoints and Cancer Checkpoints ensure that cells complete one event before proceeding to the next event Cancer is a disease of uncontrolled cell growth, sloppy DNA replication and errors in chromosome segregation
32% of human genes have homologues in fly, worm and yeast Of 1,308 protein families, only 94 are specific to vertebrates
Only 5% of our genome codes for protein • 13 chromosomal rearrangements separate our • chromosomes from the cat • 50% of the genome is simple repeat sequence • Our fossil record is exposed! We’re unique not because of the parts list, Rather how the parts are put together
Functional Assays Bioinformatics – Mining the 3 billion bits of information in the genome Proteomics – Develop assays to study the function of 30,000 proteins Imaging Informatics – Protein location and dynamics or Where is everyone ?
Genetic disease Time Map Clone gene Understand basic biologic defect Diagnostics Preventive medicine Gene therapy Drug therapy Pharmacogenomics
Paradigm Shifts in Biomedical Research Shift from treating symptoms to genetic therapy Genetically based, individualized preventive medicine Determine genetic profile for battery of diseases Pharmacogenomics- prophylactic drug regimen Identify disposition of offspring
THANKS !!! Special thanks to John Anderson Purdue University Rachael Bloom
Paradigm Shifts in Biomedical Research Structural genomics Functional genomic Genomics Proteomics Map-based gene discovery Sequence-based discovery Monogenic disorders Multifactorial disorders Specific DNA diagnosis Monitoring of susceptibility Analysis of one gene Analysis of multiple genes Gene action Gene regulation Specific mutations Mechanism One species Several species
G1 DNA synthesis Mitosis G2 The Cell Cycle
Gregor Mendel Barbara McClintock Charles Darwin
Digital Imaging Microscopy Z-series 0.75 µm apart Compiled