The document provides information about the objectives and history of the Human Genome Project. It discusses: - The goals of the project which were to identify all human genes, determine the DNA sequence, improve data analysis tools, and address ethical issues. - Key dates and milestones from 1984 when it was proposed through completion of sequencing the human genome in 2003. - Methods used to determine DNA sequences including Sanger dideoxy chain termination and shotgun sequencing. - Outcomes of the project including ability to locate disease genes, advances in gene therapy, and providing benefits to medicine, energy, the environment, and risk assessment.

1. Presented by :-
Shimaa Rashed

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”

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

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

17. Dideoxy (Sanger)
Method

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

19. Automated Version of the
Dideoxy Method

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

22. 2nd Generation:
Pyrosequencing
 1st generation -- chain termination
(Sanger) method
 2nd generation -- detection of PPi
(pyrosequencing = 454
sequencing)

24. 3rd generation (“next generation”) --
real-time detection of polymerization with fluorescent dNTPs

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“

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

33. Thank you