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By Elliot Kronsberg, Danielle Grosse,
Samantha Kramer, and William Luttrell
   Began in 1990, completed in 2003
   U.S. Department of Energy
   National Institutes of Health
   Wellcome Trust (U.K.)-became major partner
   Other contributions-Japan, France, Germany,
    China
   Identify all the human DNA genes
   Determine sequences of chemical base pairs
   store this information in databases
   Improve tools for data analysis
   Transfer related technologies to private sector
   Address ethical, legal, and social issues
   All DNA in organism – including genes
   Genes carry information for making proteins
   Proteins determine:
       how the organism looks
       how its body metabolizes food or fights infection
       sometimes even how it behaves
   Made of Adenine, Thymine, Cytosine, and
    Guanine
   Repeated throughout genome
   Human genome - 3 billion base pairs
   Order of bases is extremely important
   Order dictates what organism is
   Determining sequence of human genome
   Identifying genes that human genome contains
   Allowed researchers to understand human
    blueprint
   This knowledge will impact:
       The fields of medicine
       Biotechnology
       Life sciences
   The process of determining the exact order of
    the 3 billion bases (adenine, guanine, cytosine,
    and thymine) that make up the DNA of the 24
    different autosomal human chromosomes



   The resulting DNA sequence maps are being
    used by 21st Century scientists to explore
    human biology and other complex phenomena
   Researchers collected blood (female) or sperm
    (male) samples from a large number of donors

   Sperm cells are selected for DNA preparation
    because there is a higher DNA to protein ratio
    which makes it easier to isolate the DNA

   Researchers also used white blood cells from
    female donor blood to represent women in the
    project
   Gene tests involve direct examination of the
    DNA molecule itself.

   Other genetic tests include biochemical tests for
    gene products and for microscopic examination
    of stained chromosomes.

   Researchers studied the genetic makeup of
    several nonhuman organisms, including the
    common human gut bacterium Escherichia coli,
    the fruit fly, and the laboratory mouse.
   Previously, standard methods were based on
    separating DNA fragments by gel electrophoresis




   This was extremely labor intensive and expensive
   Now, gel-based sequencers use multiple tiny
    tubes to run standard electrophoretic
    separations



   These separations are much faster because the
    tubes dissipate heat well and allow the use of
    much higher electric fields to complete
    sequencing in shorter times.
   The human genome’s higher-gene-density are
    mostly composed of cytosine and guanine

   However, the lower-gene-density areas are rich
    in adenine and thymine

   The genes clump randomly along the genome

   There are areas of non-coding DNA in between
   The total number of genes is estimated at
    25,000, much lower than previous estimates of
    80,000 to 140,000

   The human genome sequence is almost exactly
    the same (99.9%) in all people.

   Functions are unknown for more than 50% of
    discovered genes.
   The largest human chromosome (chromosome
    1) has the most genes (3,168) and the Y
    chromosome has the fewest (344)
   The distribution of genes on the chromosomes
    of mammals is uneven, making their
    appearance look strange
   This contrasts with the genomes of many other
    organisms, such as the mustard weed, the
    worm, and the fly.
   Their genomes are more uniform, with genes
    relatively evenly spaced along chromosomes.
   "Completing the human genome is a vital step
    on a long road but the eventual health benefits
    could be phenomenal.” -Professor Allan
    Bradley
   Better diagnosis of diseases
   Help understand human migration and
    evolution
   Understand how humans evolved and how
    they are evolving today.
   Produce healthier/disease-free animals
   Screening newborn babies for disease
   Alert patients of risk of disease
   Risk of future development of disease (such as
    Huntington’s)
   Testing for disease, like leukemia
   Study response to drugs
   Study mutations
   The Human Genome project has identified the
    association of certain gene sequences with
    diseases. These include:
    • Breast cancer

    • Muscle disease

    • Deafness

    • Blindness

   The Human Genome project may help treat or
    even cure these diseases.
   Study diseases found to help health
   Maintain better general health
   Better drugs and medicine
   Understand diseases like Alzheimer's or heart
    disease.
   Understand best drugs for someone based on
    genetic makeup.
   Biological and Environmental Research Information System. (2003, October 29). TEN VIGNETTES: Stories of Genomic Discovery. Human
            Genome Project Information. Retrieved March 13, 2012, from
            www.ornl.gov/sci/techresources/Human_Genome/project/feb_pr/vignettes.shtml
   Biological and Environmental Research Information System. (2008, September 19). Genome Sequencing. Human Genome Project Information.
            Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/faq/seqfacts.shtml
   Biological and Environmental Research Information System. (2011, September 19). About the Human Genome Project. Human
            Genome Project Information. Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml
   Genome.gov. (2010, October 30). Retrieved from http://www.genome.gov/11006943
   Human genome project information. (2009, October 09). Retrieved from
            http://www.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml
   (n.d.). Retrieved from http://www.knowledgene.com/part4.html
   The finished human genome - welcome to the genomic age. (2003, April 14). Retrieved from
            http://www.sanger.ac.uk/about/press/2003/030414.html

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  • 1. By Elliot Kronsberg, Danielle Grosse, Samantha Kramer, and William Luttrell
  • 2. Began in 1990, completed in 2003  U.S. Department of Energy  National Institutes of Health  Wellcome Trust (U.K.)-became major partner  Other contributions-Japan, France, Germany, China
  • 3. Identify all the human DNA genes  Determine sequences of chemical base pairs  store this information in databases  Improve tools for data analysis  Transfer related technologies to private sector  Address ethical, legal, and social issues
  • 4. All DNA in organism – including genes  Genes carry information for making proteins  Proteins determine:  how the organism looks  how its body metabolizes food or fights infection  sometimes even how it behaves
  • 5. Made of Adenine, Thymine, Cytosine, and Guanine  Repeated throughout genome  Human genome - 3 billion base pairs  Order of bases is extremely important  Order dictates what organism is
  • 6. Determining sequence of human genome  Identifying genes that human genome contains  Allowed researchers to understand human blueprint  This knowledge will impact:  The fields of medicine  Biotechnology  Life sciences
  • 7. The process of determining the exact order of the 3 billion bases (adenine, guanine, cytosine, and thymine) that make up the DNA of the 24 different autosomal human chromosomes  The resulting DNA sequence maps are being used by 21st Century scientists to explore human biology and other complex phenomena
  • 8. Researchers collected blood (female) or sperm (male) samples from a large number of donors  Sperm cells are selected for DNA preparation because there is a higher DNA to protein ratio which makes it easier to isolate the DNA  Researchers also used white blood cells from female donor blood to represent women in the project
  • 9. Gene tests involve direct examination of the DNA molecule itself.  Other genetic tests include biochemical tests for gene products and for microscopic examination of stained chromosomes.  Researchers studied the genetic makeup of several nonhuman organisms, including the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse.
  • 10. Previously, standard methods were based on separating DNA fragments by gel electrophoresis  This was extremely labor intensive and expensive
  • 11. Now, gel-based sequencers use multiple tiny tubes to run standard electrophoretic separations  These separations are much faster because the tubes dissipate heat well and allow the use of much higher electric fields to complete sequencing in shorter times.
  • 12. The human genome’s higher-gene-density are mostly composed of cytosine and guanine  However, the lower-gene-density areas are rich in adenine and thymine  The genes clump randomly along the genome  There are areas of non-coding DNA in between
  • 13. The total number of genes is estimated at 25,000, much lower than previous estimates of 80,000 to 140,000  The human genome sequence is almost exactly the same (99.9%) in all people.  Functions are unknown for more than 50% of discovered genes.
  • 14. The largest human chromosome (chromosome 1) has the most genes (3,168) and the Y chromosome has the fewest (344)  The distribution of genes on the chromosomes of mammals is uneven, making their appearance look strange  This contrasts with the genomes of many other organisms, such as the mustard weed, the worm, and the fly.  Their genomes are more uniform, with genes relatively evenly spaced along chromosomes.
  • 15. "Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal.” -Professor Allan Bradley  Better diagnosis of diseases  Help understand human migration and evolution  Understand how humans evolved and how they are evolving today.  Produce healthier/disease-free animals
  • 16. Screening newborn babies for disease  Alert patients of risk of disease  Risk of future development of disease (such as Huntington’s)  Testing for disease, like leukemia  Study response to drugs  Study mutations
  • 17. The Human Genome project has identified the association of certain gene sequences with diseases. These include: • Breast cancer • Muscle disease • Deafness • Blindness  The Human Genome project may help treat or even cure these diseases.
  • 18. Study diseases found to help health  Maintain better general health  Better drugs and medicine  Understand diseases like Alzheimer's or heart disease.  Understand best drugs for someone based on genetic makeup.
  • 19. Biological and Environmental Research Information System. (2003, October 29). TEN VIGNETTES: Stories of Genomic Discovery. Human Genome Project Information. Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/project/feb_pr/vignettes.shtml  Biological and Environmental Research Information System. (2008, September 19). Genome Sequencing. Human Genome Project Information. Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/faq/seqfacts.shtml  Biological and Environmental Research Information System. (2011, September 19). About the Human Genome Project. Human Genome Project Information. Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml  Genome.gov. (2010, October 30). Retrieved from http://www.genome.gov/11006943  Human genome project information. (2009, October 09). Retrieved from http://www.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml  (n.d.). Retrieved from http://www.knowledgene.com/part4.html  The finished human genome - welcome to the genomic age. (2003, April 14). Retrieved from http://www.sanger.ac.uk/about/press/2003/030414.html