Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Human genome


Published on

Published in: Health & Medicine
  • Be the first to comment

Human genome

  1. 1. Presented by :-Shimaa Rashed
  2. 2. Objectives identify all the approximately 20,000-25,000 genes in human DNA determine the sequences of the 3 billion chemical base pairs that make up human DNA and store this information in databases improve tools for data analysis transfer related technologies to the private sector address the ethical, legal, and social issues (ELSI) that may arise from the project
  3. 3. On January 1989 biologist and scientistsgathered and Zinder Norton declared “todaywe are initiating an unending study of humanbiology whatever else happen it will be anadventure , priceless endeavor”The main aim of human genome project isto map the human genome.About 3 billion nucleotide pairs encode allhuman traits .
  4. 4.  It should be noted that through the first eight years of the project ,only three percent of the human genome hadbeen sequenced. James d Watson was one of the early supporters of the human genome initiative and the first director of the center of human genome research.
  5. 5. What is the HumanGenome Project? The Human Genome Project or HGP is the complete mapping and understanding of all the genes of human beings. All of our genes together are known as a “genome”
  6. 6. Brief history of HGP 1984 to 1986 - first proposed at US DOE meetings 1987 Congressionally chartered DOE advisory committee, HERAC, recommends a 15- year, multidisciplinary, scientific, and technological undertaking to map and sequence the human genome. DOE designates multidisciplinary human genome centers. 1987 NIH NIGMS begins funding of genome projects.
  7. 7.  1988 - endorsed by US National Research Council (Funded by NIH and US DOE $3 billion set aside) 1988 First annual Cold Spring Harbor Laboratory meeting on human genome mapping and sequencing. 1988 Telomere (chromosome end) sequence having implications for aging and cancer research is identified at LANL. 1990 - Human Genome Project started formally. 1991 Human chromosome mapping data repository, GDB, established. 1992 Low-resolution genetic linkage map of entire human genome published.
  8. 8.  1995 LANL and LLNL announce high-resolution physical maps of chromosome 16 and chromosome 19, respectively. 1995 Moderate-resolution maps of chromosomes 3, 11, 12, and 22 maps published. 1995 Physical map with over 15,000 STS markers published. 1995 First (nonviral) whole genome sequenced (for the bacterium Haemophilus influenzae).
  9. 9.  1996 Sequence of the human T-cell receptor region completed. 1997 NIH NCHGR becomes National Human Genome Research Institute (NHGRI). 1997 High-resolution physical maps of chromosomes X and 7 completed. 1997 UNESCO adopts Universal Declaration on the Human Genome and Human Rights 1999 First Human Chromosome Completely Sequenced! On December 1, researchers in the Human Genome Project announced the complete sequencing of the DNA making up human chromosome 22.
  10. 10.  2000 International research consortium publishes chromosome 21 genome, the smallest human chromosome and the fifth to be completed. 2000 DOE researchers announce completion of chromosomes 5, 16, and 19 draft sequence. 2001 Human Chromosome 20 Finished - Chromosome 20 is the third chromosome completely sequenced to the high quality specified by the Human Genome Project. Human Genome sequence published in Nature 2003.
  11. 11.  2003 Human Chromosome 6 Completed, October Human Chromosome 7 Completed, July 2003. Human Chromosome Y Completed, June 2003. 2004 Human Chromosome 16 Completed, December Landmark Paper: Finishing the euchromatic sequence of the human genome, Nature, Oct. 21, 2004 Human Gene Count Estimates Changed to 20,000 to 25,000, October 2004. Human Chromosome 5 Completed, September 2004. Human Chromosome 9 Completed, May 2004. Human Chromosome 10 Completed, May 2004. Human Chromosome 18 Completed, March 2004. Human Chromosome 19 Completed, March 2004. Human Chromosome 13 Completed, March 2004.
  12. 12.  2005 Human Chromosome 4 Completed, April 2005. Human Chromosome 2 Completed, April 2005. Human Chromosome X Completed, March 2005. 2006 Human Chromosome 1 Completed, May 2006. Human Chromosome 3 Completed, April 2006. Human Chromosome 17 Completed, April 2006. Human Chromosome 11 Completed, March 2006. Human Chromosome 12 Completed, March 2006. Human Chromosome 15 Completed, March 2006. Human Chromosome 8 Completed, January 2006.
  13. 13.  2007 Human Microbiome Project begins. See Turnbaugh, P.J. et al. (2007) The human microbiome project. 1000 Genomes Project Consortium publishes pilot paper in Nature, October 2010. 2011 Ruling Upholds Myriad Gene Patent in Cancer Test, NYT, July 30 Launched Genomic Revolution (May 2011) 2012 Launches MyGenome App for iPad; "First Tool of Its Kind for Visualizing the Human Genome", June 2013 The U.S. Is Building Massive DNA Databases Map Of Shortcuts Created Between All Human Genes
  14. 14. Determining theSequence of DNA Methods: 1. Chain termination or dideoxy method  F. Sanger 2. Shotgun sequence method 3. 2nd generation sequence methods  Pyrosequencing
  15. 15. Dideoxy (Sanger)Method
  16. 16. • ddNTP- 2’,3’-dideoxynucleotide• No 3’ hydroxyl• Terminates chain when incorporated• Add enough so each ddNTP is randomly and completely incorporated at each base
  17. 17. Automated Version of theDideoxy Method
  18. 18. Shotgun sequence method The shotgun phase of the Human Genome Project itself consisted of three steps: 1-Obtaining a DNA clone to sequence 2-Sequencing the DNA clone 3-Assembling sequence data from multiple clones to determine overlap and establish a contiguous sequence
  19. 19. 2nd Generation:Pyrosequencing 1st generation -- chain termination (Sanger) method 2nd generation -- detection of PPi (pyrosequencing = 454 sequencing)
  20. 20. 3rd generation (“next generation”) -- real-time detection of polymerization with fluorescent dNTPs
  21. 21. What are the outcomesof The human GenomeProject? Genetically proven to have the ability to locate genes that are responsible for locating diseases Gene Therapy used today The HGP has been very successful
  22. 22. Benefits/advantages The human genome project has been described as the most important experiment in the biological sciences, providing benefits in various fields.
  23. 23. Medicine application Improved diagnosis of disease Earlier detection of genetic predispositions to disease Rational drug design Gene therapy and control systems for drugs Pharmacogenomics "custom drugs“
  24. 24. Energy and Environmental Applications:- Use microbial genomics research to create new energy sources (biofuels) Use microbial genomics research to develop environmental monitoring techniques to detect pollutants Use microbial genomics research for safe, efficient environmental remediation Use microbial genomics research for carbon sequestration
  25. 25. Risk Assessment: - Assess health damage and risks caused by radiation exposure, including low-dose exposures Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins Reduce the likelihood of heritable mutations
  26. 26. Thank you