HUMAN GENOME
PROJECT
Stephanie Huff
CAS 100A
Penn State Hazleton
3/25/09
Overview:
 Introduction
 Main Aspects of Genetics
 Main Points
 What is the Human Genome Project (HGP)?
 Some Major Findings
 Benefits and Implications
 Conclusion
 What this means for the future
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The Human Genome
 Made up of DNA, which has four different
chemical building blocks:
 DNA from all organisms is made up of the same chemical
and physical components.
 The DNA sequence (3 billion bases) is the particular sideby-side arrangement of bases along DNA strand (e.g.
ATTCCGGA) for each unique individual.
 These are called bases that and are abbreviated A, T, C, and G.
 Form the rungs of the double-helix model.
 Estimates of 20-25,000 genes in the human genome.
 The human genome is arranged into 24 distinct
chromosomes (range from 50-250 million base pairs each).
 To put into perspective:
 To get an idea of the size of the human genome present in
each of our cells, consider the following analogy: If the DNA
sequence of the human genome were compiled in books, the
equivalent of 200 volumes the size of a Manhattan telephone
book (at 1000 pages each). This would take about 9.5 yrs to
read out loud at a rate of 10 bases per second. This would also
take up 3 gigabytes of computer data storage space to store
the entire nucleotide sequence of the human genome.
Example of partial DNA sequencing
1. Subcloning- bases broken into shorter pieces.
2. Fragments are sequenced separately and dyed by fluorescent
dyes to differentiate.
3. Sequenced fragments are put together and the bases are
“read” and later analyzed for errors, gene-coding regions, and
other characteristics.
“It’s a history book- a narrative of the journey of
our species through time. It’s a shop manual,
with an incredibly detailed blueprint for
building every human cell. And it’s
transformative textbook of medicine, with
insights that will give health care providers
immense new powers to treat, prevent, and
cure diseases”
-- Francis Collins, director of NHGRI
Main Point 1
What is the Human Genome Project?



The Human Genome Project (HGP) was
formally started in October 1990 and was
expected to run for 15 years, but was finished
early after 13 years in 2003.
The Department of Energy's Human Genome
Program and the National Institutes of Health's
National Human Genome Research Institute
(NHGRI) together sponsored the U.S. Human
Genome Project.
It is an international effort:
 Some 18 countries have participated in
the worldwide effort, with significant
contributions from the Sanger Center in
the United Kingdom and research
centers in Germany, France, and Japan.

They allocated money to many
laboratories across the U.S. to complete
the research.
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Overall Goals of HGP:

To determine the complete sequence of the 3 billion chemical base pairs
that make up DNA.
 Identify all human genes:
 Approximately 20,000-25,000 genes in human DNA
 Determine the sequences of the 3 billion chemical base pairs that make up
human DNA
 Store this information in databases
 Improve tools for data analysis

Make them accessible for further biological study.
 Address the ethical, legal, and social issues (ELSI) that may arise from the
project.
 Transfer related technologies to the private sector
 Relate studies involving parallel sequencing of other “model” organisms
to help develop the technology and interpret human gene function.
 Called Comparative Genomics
 Has included humans, rats, mice, fruit flies, and E. coli and other types of
bacteria.
Process…
 The human genome reference sequences do not represent
any one person’s genome. Rather, they serve as a starting
point for broad comparisons across humanity.
 The knowledge obtained from the sequences applies to
everyone because all humans share the same basic set of
genes and genomic regulatory regions that control the
development and maintenance of their biological
structures and processes.
 In the international public-sector Human Genome Project
(HGP), researchers collected blood (female) or sperm
(male) samples from a large number of donors. Only a few
samples were processed as DNA resources.
Main Point 2
Some Major Findings:
 The first gene was completed in 2001.
 The completion of the human DNA sequence in the April
of 2003.
 This coincided with the 50th anniversary of Watson and Crick's
description of the fundamental structure of DNA.
 Final HGP papers were published in 2006.
 In-depth analyses of complete chromosomes continue to
be published currently.
 The analytical power arising from the reference DNA
sequences of entire genomes and other genomics
resources has jump-started what some call the "biology
century.“
Post-Sequencing Research Challenges:
 What happens now that the human genome
sequence is completed?
 The working-draft DNA sequence and the more polished
2003 version represent an enormous achievement,
 Much work remains to realize the full potential of the
accomplishment.
 Early explorations of the human genome, now joined by
projects on the genomes of several other organisms, are
generating data whose volume and complex analyses are
unprecedented in biology.
 Genomic-scale technologies will be needed to study and
compare entire genomes, sets of expressed RNAs or proteins,
gene families from a large number of species, variation among
individuals, and the classes of gene regulatory elements.
 Deriving meaningful knowledge from DNA sequences will
define biological research through the coming decades and
require the expertise and creativity of teams of biologists,
chemists, engineers, and computational scientists, among
others.
 Gene number, exact locations, and functions and regulation.
Main Point 3
Benefits and Implications of Genome Research
 Technology and resources generated by the Human
Genome Project and other genomics research are
already having a major impact on research across the life
sciences.
 The potential for commercial development of genomics
research presents U.S. industry with a wealth of
opportunities, and sales of DNA-based products and
technologies in the biotechnology industry are projected
to exceed $45 billion by 2009 (Consulting Resources
Corporation Newsletter, Spring 1999).
Some current and potential applications of
genome research include:
 Energy sources and environmental applications
 Use microbial genomics research to:
 Create new energy sources (biofuels)
 develop environmental monitoring techniques to detect
pollutants
 Safe, efficient environmental remediation
 Carbon sequestration
 Health damage and risk assessment
 Caused by radiation, chemicals, and cancer-causing toxins.
 Bioarchaeology, Anthropology, Evolution, Population Migration
 Study evolution through
 Study migration of different population groups
 Study genetic mutations
 DNA forensics (identification)
 Crime Scene Investigation
 Court Cases (Evidence)
 Establish paternity and other family relationships
 Match organ donors
 Agriculture, livestock breeding, and bioprocessing
 Caused by radiation exposure, including low-dose exposures
or alternative treatments.
 Mutagenic chemicals and cancer-causing toxins
 Reduce the likelihood of inheritable mutations
 Bioarchaeology, anthropology, evolution, and human migration
 Study evolution through genetic lineages
 Study migration of different populations
Poster depicting the
resources gained
from Human
Research Project
research.
CONCLUSION
How will the HGP impact medicine?
 Development of the field of Genomics- understanding
iiiigenetic material on a large scale.
 Learning about genetic disorders, genes, and proteins
 Improved diagnosis of disease
 Earlier detection of genetic predispositions to disease
 Gene therapy being used to cure disease
 Genetic counseling
 Enhance current genetic testing (Alzheimer’s , Cystic
iiiifibrosis, etc.) and develop new tests to diagnose
iiiipatients.
 Rational drug design based on protein composition rather I
than trial and error—Pharmogenomics “custom drugs”
 Develop new ways to treat, cure, and prevent thousands of
diseases that afflict humankind.
 Help to determine major environmental factors that I
cause diseases.
 Ultimately replace or supplement defective genes.
Q and A:
 Contact Information:
 Stephanie Huff
 E-mail: smh5265@psu.edu
References

http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml

http://www.genome.gov/10001772

http://www.ncbi.nlm.nih.gov/SCIENCE96/chr.cgi?2

http://www.accessexcellence.org/RC/AB/IE/Intro_The_Human_Genome.php

http://library.thinkquest.org/28599/human_genome.htm

http://www.genome.gov/12011238