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GENOMICS
- 1. GENOMICS 1 …The Telescope of Science Presented by AROGUNDADE, Tolulope Timothy (08/46KA015) Lecturer: Dr. A.S ALABI
- 2. Outline Introduction Importance of genomics Human Genome Project Application of Genomics - Genetic testing/diagnosis/therapy - Pharmacogenomics - DNA fingerprinting Legal and Ethical Aspects of Genomics 2
- 3. Introduction Genetics vs. Cells, Genes and Genomes 3
- 4. Genome Types Prokaryotic genomes Eukaryotic genomes Nuclear genomes Mitochondrial genomes Chloroplast genomes 4(Ridley, 2006)
- 5. Why should we study genomes? • Each and everyone is a unique creation! • Life’s little book of instructions • DNA blue print of life! • A hidden language/code determines which proteins should be made and when • This language is common to all organisms 5 (Koonin et al., 2011)
- 6. What can genome sequence tell us? • Everything about the organism's life • Its developmental program • Disease resistance or susceptibility • History 6 (Genome home, 2010)
- 7. How is human genome organized? • 3% coding and rest of it junk (repetitive DNA). • Nuclear and mitochondrial • You are 99.9% similar to your neighbor 7 (Ridley, 2006)
- 11. Importance of Genomics All humans have 99.9% identical genetic makeup The remaining 0.1% difference may provide useful information about diseases One of the goals of genomics is to show why some people get sick from certain infections and environmental changes while others do not. 11
- 13. Research Areas 13 Functional genomics Structural genomics System genomicsMetagenomics Epigenomics
- 14. Functional Genomics • Once we know the sequence of genes, we want to know the function • The genome is the same in all cells of an individual, except for random mutations • However, in each cell, only a subset of the genes is expressed – The portion of the genome that is used in each cell correlates with the cell’s differentiated state 14
- 15. Comparative genomics • Mechanisms of evolution • What is conserved between species? –Genes for basic processes • What makes closely related species different? –Their adaptive traits 15
- 16. Conservation between species identifies important components • Compare parts lists – Mantle clock – Pocket watch – Wristwatch • Identify essential elements of timekeeping – Gears, hands, etc. • Superfluous parts – Wristband 16
- 17. Humans and their ancestors • All great apes have high level of cognitive ability • But very different social behaviors human orangutangorilla chimpanzee 17
- 18. Applications of genomics to medicine • Genes for disease susceptibility • Improved diagnosis • Pharmacogenomics 18
- 19. Pharmacogenomics: drug therapies tailored to individuals • Design therapies based on the individual’s genome • Subtle, but important, differences in genomes – Cause differences in how one responds to drugs • Identify those who will suffer harmful side effects from particular drugs 19
- 20. Prescreening based on genomes All patients with same diagnosis 1 Remove Toxic and Nonresponders Treat Responders and Patients Not Predisposed to Toxic 2 20
- 21. Genomics applied to agriculture • Sequencing of crop-plant genomes • Gene discovery for useful traits • Genomewide regulatory networks to improve traits 21
- 22. Ethical issues raised by genomics (ELSI) (Ethical legal, societal implications) • Individual’s genome holds key to disease susceptibility • Potential for misuse recognized by founders of Human Genome Project 22
- 23. Genetic testing in the workplace • Major railroad company decided to perform DNA tests on employees • Wanted to identify susceptibility to carpal tunnel syndrome • Equal Employment Opportunity Commission filed suit to block action 23
- 24. Genetic modification of humans • Once we know the genes responsible for particular diseases, should we “cure” the diseases? • Should we also modify genes responsible for traits such as height or beauty? • Should we allow the cloning of human beings? 24
- 25. References • Genomes by T.A. Brown, 1999, John Wiley & Sons, NY • Genes VIII by Benjamin Lewin, 2003, Oxford University Press • Molecular Biology by Robert F. Weaver, 1999, McGraw-Hill Press • Genome by Matt Ridley, Harper Collins, 2000 • Introduction to Genomics by Arthur M. Lesk, 2007, Oxford University Press 25
- 26. 26 Please be gentle with your questions, I am very fragile…
Notas del editor
- Genomics is the study of genome structure and function. This is a new and exciting area that has recently witnessed many conceptual and technical advances. This information is vital to our day-to-day living in this century.
- The number of organisms that have had their entire genome sequenced increases every day. One of the big surprises that emerged from full-genome sequencing was that the human genome contains about the same number of genes as the genomes of fish, mice, and plants. While a bit of a blow to our sense of our own uniqueness, this finding served to reinforce the recognition that we share many common features with all other organisms. The chart in this slide places the various organisms with fully sequenced genomes, where the x-axis represents genome size and the y-axis represents gene number. Note that not only does the human genome not have many more genes than other genomes, but also it is far from the largest when it comes to total DNA content. Many plant genomes are far larger.
- Genomics is an interdisciplinary field involving a marriage of molecular biology, robotics, and computing. Underlying most of genomics are the tools and techniques of molecular biology, or, more precisely speaking, those of recombinant DNA. These techniques include determining the sequence of DNA, making genomic libraries, and amplifying DNA. With the advent of genomics, many of these techniques were automated through the use of robotics and other high-throughput technologies. Finally, but by no means the least important, the use of computers is integral to genomics. With the quantity of data generated by genomics approaches, the use of computing power is not a luxury, but an absolute necessity. With this flow of data has come the possibility of extracting new biological insights. The processing and analyzing of biological data is called “bioinformatics,” or “computational biology.”
- Genomics have a role in 9 of the 10 leading causes of death in the US http://www.cdc.gov/nchs/fastats/deaths.htm
- The field of genomics began with the Human Genome Project. In 1990, the task of sequencing the 3 billion base pairs of the human genome seemed almost insurmountable, especially at a very high level of accuracy. The goal was to achieve an error rate of less than one mistake in every 10,000 bases. Scientists realized that the immensity of the task would require the development of new technologies. Probably the most important among these technologies were machines able to perform DNA sequencing in a fully automated fashion. In addition to automated sequencing, the Human Genome Project spawned a whole range of high-throughput technologies, including automated colony pickers, microarray spotters, and equipment for the rapid isolation of DNA. Another important feature of the Human Genome Project was the decision by its founders to focus on sequencing DNA not only from the human genome, but also from a number of other organisms’ genomes. The sequencing of smaller genomes such as those of baker’s yeast and the roundworm were seen as a warm-up to the much larger task of tackling the entire human genome. These efforts also laid the foundation for the field of comparative genomics.
- An initial phase of genomics focused on the acquisition of genome sequences. As these sequences were completed for different organisms, the focus began to shift to understanding the function of the genes encoded in the genome. Except for random mutations, the genome is the same within all cells of any one individual. However, in each cell of the body, only a subset of the information found in the genome is used to express a specific set of genes. Which subset of genome information is transcribed into RNA and then into protein defines the differentiated state of a cell.
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