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. On January 1989 biologist and scientists
gathered and Zinder Norton declared “today
we are initiating an unending study of human
biology whatever else happen it will be an
adventure , priceless endeavor”
The main aim of human genome project is
to map the human genome.
About 3 billion nucleotide pairs encode all
human traits .
4. It should be noted that through the first eight years of the
project ,only three percent of the human genome had
been 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. What is the Human
Genome 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.
7. 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.
8. 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.
9. 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).
10. 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.
11. 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.
12. 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.
13. 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.
14. 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
15.
16. Determining the
Sequence of DNA
Methods:
1. Chain termination or dideoxy method
F. Sanger
2. Shotgun sequence method
3. 2nd generation sequence methods
Pyrosequencing
18. • ddNTP- 2’,3’-dideoxynucleotide
• No 3’ hydroxyl
• Terminates chain when incorporated
• Add enough so each ddNTP is randomly and
completely incorporated at each base
20. 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
24. 3rd generation (“next generation”) --
real-time detection of polymerization with fluorescent dNTPs
25.
26. What are the outcomes
of The human Genome
Project?
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
27. Benefits/advantages
The human genome project has
been described as the most
important experiment in the
biological sciences, providing
benefits in various fields.
28. 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“
29.
30.
31. 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
32. 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