The Human Genome Project was a 13-year international scientific research project that mapped and sequenced all of the genes of the human genome. It was completed in 2003 and has provided a foundation for scientific research into human health and disease. Some key outcomes of the project include identifying all of the approximately 20,000-25,000 genes that make up human DNA, determining the sequences of the 3 billion chemical base pairs in human DNA, and making this genomic data freely available online for scientific research. The project involved collaboration between research institutions in six countries and cost $3.8 billion, but it has generated an estimated $796 billion in economic impact by enabling new medical treatments and industries.

1. Made by Pratyussh Kumaarr
INTRODUCTION:
What is human genome project?
The Human Genome Project, one of the most ambitious scientific projects ever undertaken,
achieved a monumental goal: sequencing the entire human genome. Since its completion in
2003, this project has laid the groundwork for thousands of scientific studies associating genes
with human diseases.
HGP aim: sequence the entire human genome and provide the data free to the world.
First major global collaboration of its kind and the largest biological research project ever undertaken, involving
thousands of staff in institutes across the globe.
By assigning different portions of the genome to different research groups in a coordinated and
efficient way, the HGP researchers were able to overcome this challenge.
BIOLO
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PROJE
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2. WHY STUDY GENOMES ?
Understand biological processes
Understand pathological processes
Diagnose,prevent and cure diseases
SO WHAT IS A GENOME?
A genome is the full collection of genetic material/information for human {homo sapiens} (DNA) of an organism
(including non-nuclear DNA,such as mitochondrial or chloroplast DNA).
Human genome is far more complex and largest genome. It is more than the genes (which are only 1.5 % approx.
of the human genome.)

3. Its size spans a length of about 6 feet of DND ,containing 3,000,000,000 base pairs of DNA in case of humans.
The DNA material is organized into a haploid chromosomal set of 22 (autosome) and one sex chromosome (X or
Y)
Logo of the Human Genome Project
WHO TOOK PART IN THE PROJECT?
Twenty institutes from six different countries
(China, France, Germany, Japan, UK and USA)
Wellcome Trust Sanger Institute.
Washington University School of Medicine
Whitehead Institute/MIT centre for Genome research
The DOE’s Joint Genome InstituteI
Baylor College of Medicine etc.
PIONEERS OF HUMAN GENOME PROJECT :
GOALS OF HUMAN GENOME PROJECT:
To know functions of genes.
Identify all the approximately 20,000-25,000 genes in human DNA and to obtain a PHYSICAL MAP of human
genome.
Determine the sequences of the 3 billion chemical base pairs that make up human DNA and to develop a
GENETIC LINKAGE MAP of human genome.

4. Store this information in public databases; Improve and develop tools for data analysis and to develop
technology for the management of human genome information.
Transfer related technologies to other sectors, such as industries;
Address the ethical, legal, and social issues (ELSI) that may arise from the project.
HOW LONG DID HPG TAKE ?
HGP took 13 years.
Expected more than 15 years.
Started: October 1990
First “draft”: June 2000
Finished sequence: April 2003
Published: 2004.
Work continues to refine the “reference” human genome sequence.
SALIENT FEATURES OF HUMAN GENOME
Some of the salient observations drawn from human genome project are as follows::
The human genome contains 3164.7 million nucleotide bases.
The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being
dystrophin at 2.4 million bases.
The total number of genes is estimated at 30,000–much lower than previous estimates of 80,000 to 1,40,000
genes. Almost all (99.9 per cent) nucleotide bases are exactly the same in all people.
The functions are unknown for over 50 per cent of the discovered genes.
Less than 2 per cent of the genome codes for proteins.
Repeated sequences make up very large portion of the human genome.
Repetitive sequences are stretches of DNA sequences that are repeated many times, sometimes hundred to
thousand times. They are thought to have no direct coding functions, but they shed light on chromosome
structure, dynamics and evolution.
Chromosome 1 has most genes (2968), and the Y has the fewest (231).

5. Scientists have identified about 1.4 million locations where singlebase DNA differences (SNPs – single
nucleotide polymorphism, pronounced as ‘snips’) occur in humans. This information promises to revolutionise
the processes of finding chromosomal locations for disease-associated sequences and tracing human history.
T he first printout ofthe human genome to be presented as a series of books,displayed at the Wellcome
Collection,London.
METHODOLOGIES /HOW WAS THE HUMAN GENOME SEQUENCED?
Sequencing technology: only a few hundred base pairs of DNA at a time.
It had to be broken up into small pieces for sequencing → giant jigsaw puzzle.
First 200,000 base pair sections (clones)
Inserted into bacterial DNA, living libraries of the DNA clones.
Shipped between collaborating institutes.
Clones then broken into smaller pieces (4000-6000 base pairs).
Clones then broken into smaller pieces (4000-6000 base pairs)
Re-inserted into bacteria
Cultured to make enough DNA for sequencing.
Bacterial colonies transferred to tubes → lysed → DNA extracted.
Sanger sequencing method.
Resulting data pieced together to form the whole genome sequence.

7. TIMELINE: MILESTONES IN THE HUMAN GENOME PROJECT
The Human Genome Project officially began in 1990 with the goal of mapping the human genome to give
scientists a better understanding of the root causes of disease. The human genome sequence, or map, was
completed in April 2003, giving scientists around the world an important understanding of how certain diseases and
conditions develop and how they might be effectively treated. Cancer treatment is one area of medicine that has
benefited greatly from the HGP.
1990 – The HGP officially begins.
1994 – The HGP achieves its first human genetic-mapping goal. Genetic mapping is used to find evidence
that a disease transmittedfrom parent to child is linkedto one or more genes and to identify to the specific
gene (or genes) involved.
1996 – Human DNA sequencing begins with pilot studies at six universities in the UnitedStates. The
National Center for Human Genome Research andother researchers identify the location of the first major
gene that predisposes men to prostate cancer.
1997 – The National Human Genome Research Institute (NHGRI) and other scientists show that three
specific alterations in the breast cancer genes BRCA1 and BRCA2 are associatedwith an increasedrisk of
breast, ovarian and prostate cancers.
2000 – The HGP consortium announces that is has assembled 85 percent of the sequence of the human
genome, the genetic blueprint for a human being.
2003 – The NHGRI celebrates the completion of the human genome sequence.

8. 2007 – An international team of scientists, supported in part by the NHGRI, announces that is has
uncovered a critical gene alteration linkedto lung cancer.
2009 – National Institutes of Health researchers identify a gene that suppresses tumor growth in
melanoma, the deadliest form of skin cancer.
WHO HAS ACCESS TO HPG DATA?
 Put simply, everyone.
 Provide free and open access to the data for everyone in the scientific community and the public domain.
 Deposited in freely available, online public databases.
 Genome browsers: www.ensembl.org
 Access to more than 50 species’ genomes.

9. ECONOMIC BENEFITS OF THE HGP:
It is largest single biological process to be ever undertaken,
The economic and functional impacts generated by the sequencing of the human genome are already large and
widespread.
Between 1988 and 2010 the human genome sequencing projects, associated research and
industry activity—directly and indirectly—generated an economic (output) impact of$796
billion,personal income exceeding $244 billion,and 3.8 million job-years ofemployment.In the
2013 update,these numbers increased to economic (output) impactof$965 billion,personal
income exceeding $293 billion,and 4.3 million job-years ofemployment.
The federal government invested $3.8 billion in the HGP through its completion in 2003 ($5.6 billion in 2010 $).
This investment was foundational in generating the economic output of $796 billion above, and thus shows a
return on investment (ROI) to the U.S. economy of 141 to 1—every $1 of federal HGP investment has
contributed to the generation of $141 in the economy.
In 2010 alone, the genomics-enabled industry generated over $3.7 billion in federal taxes and $2.3 billion in
U.S. state and local taxes. Thus in one year, revenues returned to government nearly equaled the entire 13-
year investment in the HGP.
Overall, however, the impacts of the human genome sequencing are just beginning—large scale benefits in
human medicine, agriculture, energy, and environment are still in their early stages. The best is truly yet to
come.
T he HGPis arguably the single most influential investment to have been made in modern
science and a foundation for progress in the biological sciences moving forward.

10. WHAT HAPPENED AFTER HPG WAS FINISHED?
 Officially finished.
 Research continues on the human reference sequence.
 Filling in the “gaps” in the sequence.
 SNPs (single nucleotide polymorphisms): Genetic variation differences in single bases.
 HapMap project: 3 year → chart the patterns of genetic variation common in the world’s population.
 Results 2005 simplify studies to understand how genetic variation contributes to health and disease.
APPLICATION OF HUMAN GENOME PROJECT
Some of the different fields where human genome project application is used are:
 Molecular medicine
 Energy sources and environmental applications
 Risk assessment
 Bioarchaeology,anthropology,evolution,and human migration
 DNA forensics (identification)
 Agriculture,livestock breeding,and bioprocessing.
(a)MOLECULAR MEDICINE:
Molecular medicine characterized less by treating symptoms and more by looking to the most fundamental causes of
disease. Genetic screening will enable rapid and specific diagnostic tests making it possible to treat countless maladies.

11. DNA- based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. Genomic information
can indicate the future likelihood of some diseases. The diseases where susceptibility may be determined include heart
disease, cancer, and diabetes.
Medical researchers also will be able to devise novel therapeutic regimens based on new classes of
drugs,immunotherapy techniques,avoidance ofenvironmental conditions that may trigger disease,
and possible augmentation or even replacement ofdefective genes through gene therapy .
(B) WASTE CONTROL AND ENVIRONMENTAL CLEANUP:
In 1994, the Microbial Genome Initiative was formulated to sequence the genomes of bacteria useful in the areas of
energy production, environmental remediation, toxic waste reduction, and industrial processing. Resulting from that
project, six microbes that live under extreme temperature and pressure conditions have been sequenced. By learning
the unique protein structure of these microbes, it may be possible to use the organisms and their enzymes for such
practical purposes as waste control and environmental cleanup.
Microbial genomics will also help pharmaceutical researchers gain a better understanding of how pathogenic microbes
cause disease. Sequencing these microbes will help reveal vulnerabilities and identify new drug targets.
(C) BIOTECHNOLOGY:
Sales of biotechnology products are projected to be very high in U.S.A. by the year 2000. The HGP has stimulated
significant investment by large corporations and promoted the development of new biotechnology.

12. human genetics:Researchers working in laboratories can
determine the genetic composition ofan individual's genome.
(D) ENERGY SOURCES:
Biotechnologywill be importantinimprovingthe use of fossil-basedresources.Increasedenergydemandsrequire
strategiestocircumventthe manyproblemswithtoday’sdominantenergytechnologies.Biotechnologywill help
addressthese needsbyproviding acleanermeansforthe bioconversionof raw materialstorefinedproducts.
Additionally,there isthe possibilityof developingentirelynew biomass-basedenergysources.
Having the genomic sequence ofthe methane-producing microorganism Methanococcus jannaschii
could lead to cheaper production offuel-grade methane.
(E) RISK ASSESSMENT:
Scientists know that genetic differences cause some people to be more susceptible than others to such agents. More
work must be done to determine the genetic basis of such variability, but this knowledge will directly address the DOE’s
long-term mission to understand the effects of low-level exposures to radiation and other energy-related agents,
especially in terms of cancer risk.
 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 ofheritable mutations.

13. (F) DNA FORENSICS (IDENTIFICATION)
 Identify potential suspects whose DNA may match evidence left at crime scenes
 Exonerate persons wrongly accused of crimes
 Identify crime and catastrophe victims
 Establish paternity and other family relationships
 Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting
poachers)
 To identifyindividuals,forensicscientistsscan13 DNA regions,or loci,thatvary frompersonto personand
use the data to create a DNA profile of thatindividual(sometimescalledaDNA fingerprint).
1. Detect bacteria and other organisms that may pollute air,water,soil,and food
2. Match organ donors with recipients in transplantprograms
3. Determine pedigree for seed or livestock breeds
4. Authenticate consumables such as caviar and wine
(G)BIO ARCHAEOLOGY, ANTHROPOLOGY, EVOLUTION, AND HUMAN
MIGRATION:
Comparing the DNA sequences of entire genomes of differerent microbes will provide new insights about relationships
among the three kingdoms of life: archaebacteria, eukaryotes, and prokaryotes.
 Study evolution through germ line mutations in lineages
 Study migration ofdifferent population groups based on female genetic inheritance
 Study mutations on the Y chromosome to trace lineage and migration ofmales
 Compare breakpoints in the evolution ofmutations with ages ofpopulations and historical
events

14. Understanding genomics will help us understand human evolution and the common biology we share with all of life.
Comparative genomics between humans and other organisms such as mice already has led to similar genes associated
with diseases and traits. Further comparative studies will help determine the yet-unknown function of thousands of other
genes.
(H)AGRICULTURE, LIVESTOCK BREEDING, AND BIOPROCESSING:
Understanding plant and animal genomes will allow us to create stronger, more disease-resistant plants and animals —
reducing the costs of agriculture and providing consumers with more nutritious, pesticide-free foods. Already growers
are using bioengineered seeds to grow insect- and drought-resistant crops that require little or no pesticide. Farmers
have been able to increase outputs and reduce waste because their crops and herds are healthier..

15. ETHICAL, LEGAL AND SOCIAL IMPLICATIONS:
ELSI was created so that potential problem areas could be identified and solutions created before
genetic information is integrated intomodern health care practices .T his is a unique aspect because
the HGP is the first large scientific endeavor to address social issues thatmay arise from the project.
T here are four major priorities being addressed by ELSI.
The first is the issue of privacy and fairness in the use and interpretation of genetic information. As genetic
information is being discovered the risk of genetic discrimination increases as new disease genes are identified.
Fair use of this information for insurance, employment, criminal justice, education, adoption, and the military is
necessary.
Important issues include individual and family counseling and testing, informed consent for individual
considering genetic testing, and the use of such genetic test for the use of reproductive risk assessment and
making reproductive decisions
The issues that surround genetic research include the commercialization of the products from human genetic
research. Examples are questions of the ownership of tissue and tissue derived products, patents, copyrights,
and accessibility of data and materials
The fourth priority is the education of the general public and health care providers. It is essential that the public
understands the meaning of genetic information and that the nation's health professionals have the knowledge,
skills, and resources to integrate this new knowledge and technologies into diagnosis, prevention, and
treatment of diseases.
Bibliography:
 Human Genome Project Information. : http://www.ornl.gov/hgmis/.
 T he Human Genome Project.: http://www.accessexcellence.org/.
 T he Human Genome Project.: http://www.nhgri.nih.gov/.
 T he Human Genome Project.
http://www.wehi.edu.au/CommServWWW/depts/hgp/Project1500.html.
 Mapping and Sequencing the Human Genome.
http://www.bis.med.jhmi.edu/Dan/DOE/prim2.html
 Human Genome Project - Discovering the Human
Blueprint.http://www.science.org.au/nova/006/006act03.htm.