The Human Genome Project was a 13-year international scientific research project completed in 2003 that determined the sequence of nucleotide base pairs that make up human DNA and mapped human genes. The project was undertaken by scientists at research institutions around the world including the U.S. Department of Energy, National Institutes of Health, and Wellcome Trust. The project's goals were to identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion base pairs that make up human DNA, and store this genetic information. The project advances science and medicine by furthering the understanding of human genetics.

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