HUMAN GENOME

PROJECT
SUBMITTED TO- DR. BALACHANDAR VELLINGIRI

SUBMITTED BY: JYOTIBHUSAN

REGISTRATION NO.- 24MSZOLG13
 INTRODUCTION TO HUMAN
GENOME PROJECT
• The Human Genome Project(HGP) was an international
scientific research project that aimed to determine the
complete sequence of nucleotide base pairs that make up
human DNA and all the genes it contains.
• The Human Genome Project (HGP) is one of the greatest
scientific feats in history.
• The project was a voyage of biological discovery led by an
international group of researchers looking to comprehensively
study all the DNA (known as a genome) of a select set of
organisms.
• Launched in October 1990 and completed in April 2003, the
Human Genome Project’s signature accomplishment –
generating the first sequence of the human genome –
provided fundamental information about the human blueprint.
• Which has since accelerated the study of human biology and
improved the practice of medicine.
History of HGP
 1984-86

• 1984- The US Department Of Energy (DOE) and the

International Commission For Protection Against
Environmental Mutagens And Carcinogens (ICPEMC)
co sponsor the “Alta summit” highlighting the
growing role of recombinant DNA technology.
• May 1985, Robert sins-Heimer chancellor of
University of California, Santacruz hold THE
SANTACRUZ WORKSHOP on human genome
sequencing.
• 1986- DOE office of health and environmental
research hold the “GENOME SEQUENCING
WORKSHOP” in Santa Fe, New Mexico.
 1988
• From Feb. 29 to March 1, 1988, NIH director JAMES
wyngaarden assembles scientist, administrator and
science policy experts in Ruston Virginia, to lay out the
plan for Human Genome Project.
• 2 reports published which shows the efforts to sequence
Human genome.
1. NRCC on life science publishes- Mapping and
sequencing the human genome
2. US congress office of technology assessment publishes –
Genome projects: how big? How Far?
• In October 1988, NIH and DOE sign a memorandum of
understanding to coordinate research and technical
activities related to human genome.
• Also, creation of office for Human Genome Research
within NIH office.
 1989-90

• On October 1 National Centre for Human Genome

Research(NCHGR) created.
• Creation of working group for Ethical Legal And
Social Implication (ELSI).
• These working group should anticipate and
address the consequences for individuals and
society.
 1990

• In April 1990, NIH and DOE publish a plan for the first
five years of an expected 15-year project. The goals
of the project include mapping the human genome
and determining the sequence of all its 3.2 billion
letters; mapping and sequencing the genomes of
other organisms important to the study of biology;
and developing technology to analyze DNA.
• On Oct. 1, 1990, the project officially begins.
• NIH allocates the first funds to research grants aimed
at developing the scientific approaches, technologies,
and resources needed to map and sequence the
human genome.
 1993

• Rapid progression towards the goals established in

1990, NIH and DOE established new set of goals for
HGP in 1993- two years ahead of the schedule.
• GOALS-
o Creating detailed genetic and physical map
o Developing efficient strategies for sequence
o Encouraging technology research
 1994
• HGP met its 1
mapping goals- A
st

comprehensive human genetic map.

• Genetic linkage maps shows the relative order
and approximate spacing between specific
DNA patterns, called MARKERS.
• Genetic linkage maps are the first tools used
by researchers to find a disease-causing
genes.
• Simply these maps identify the general area of
the chromosomes that contains the genes.
 1995

• PHYSICAL MAPS discovered which contains actual,

physical location of identifiable landmarks on
chromosomes.
• Physical maps uses a sequence tagged site as a
landmark to help arranged the large segments of
DNA.
• It’s a significant Milestones towards that goal.
• This research is about creating a detailed map of
human chromosome 22 using YACs and STS markers.
This map is crucial for understanding diseases and
the structure of our DNA, paving the way for future
discoveries in genetics.
 1996
• Feb. 1996, HGP leaders met in Bermuda for the 1 st

International strategy meeting on Human Genome

Sequencing
• They decide that all HG sequence info should be
made freely available and placed in Public domain
within 24 hrs of being generation by federally
funded large scale human genome sequencing
centres.
• Bermuda Principles:
Drafted to encourage research and development
To maximize the human genome project’s benefit
to the society
• Same year 2 international strategy meeting on HG
nd

sequencing held to affirm those Bermuda Principles.

Photo: A subset of the participants of a 1996 meeting held in Bermuda that helped to establish the
“Bermuda Principles” for sharing genome sequence data during the Human Genome Project.
Shown (from left to right) are David Bentley, John Sulston, and Eric Green in the front row and
Richard McCombie, Richard Gibbs, Richard Wilson, and Elson Chen in the back row.
 1997

• NCHGR renamed to NHGRI, department of

health and human service secretary DONNA E.
SHALALA signs document that give NCHGR a
new name.
• It is like giving a new status to the projects
among other institutes and indicates that the
new designation given to the project as an
institute.
 1998

• On oct 23, 1998, there is a new NIH DOE 5yr

plan, because all the major goals of previous
5yr plan have been met and a new 5yr plan
predicts completion human genome
sequencing in 2003, 2 yrs ahead of the
schedule.
• This plan reflects a commitment to generate a
working draft of human genome by 2003.
 1998 5yr plan GOALS
• Goal 1:- The human genome sequence
Providing a complete high-quality sequence of human genomic DNA to research community
as a publicly available resource continues to be HGP’s priority goal. Till that point 6% of the
human genome has been completed so far.
• Goal 2:- Sequencing Technology
DNA sequencing technology has advanced significance.
• Goal 3:- Human Genome Sequence Variation
Human genome exhibit natural sequence variation primarily single nucleotide
polymorphism(SNPs), which occurs frequently and have potential functional implications .
SNPs are important for mapping complex traits and conducting genome wide association
studies, which can help identify gene linked to disease.
So, goal here is to develop efficient technology to quickly identify and scoring
large numbers of DNA sequence variation, including new SNPs and new variants.
Also to find common genetic variations in important genes over 5yrs , special focusing on
markers for disease ultimately creating a comprehensive list of these variations linked to
 1999
• In May 1999, following a meeting at Cold Spring Harbor Laboratory,
leaders of the International Human Genome Sequencing Consortium,
comprised of 20 sequencing centers in the U.S. and around the globe,
reaffirm their commitment to providing free, immediate and unrestricted
access to human sequencing data.
• They also define powerful new ways to coordinate the worldwide effort to
sequence the human genome. The group reiterates its commitment to place all
sequence data in the public domain immediately and denounces the trend
towards treating human genome sequence as a commodity.
• In December international teams of researchers achieves the scientific
milestones of unravelling the genetic code of entire human
chromosomes for the first time.
• Researchers figured out that the sequence of 37.5 million letter that make
up the DNA of chromosome 22.It is a great achievement an paves the way
for completion of the project.
 2000
• Working Draft completed for sequence of human
Genome. Working draft is genetic blueprint of
human being.
• On June 26, 2000, the International Human
Genome Sequencing Consortium announces
that it completed a working draft of the sequence
of the human genome.
• President Bill Clinton holds a ceremony at the
White House to announce this achievement. The
ceremony takes place in the East Room of the
White House, where politicians, ambassadors,
scientists, company executives, disease
advocates and journalists gather to celebrate a
major milestone for the project.
 2001

• On Feb. 12, 2001, the International Human

Genome Sequencing Consortium announces
the publication of a draft sequence and initial
analysis of the human genome in the journal
Nature.
• A wealth of information is obtained from the
initial analysis of the human genome draft. For
instance, the number of human genes is
originally estimated to be about 35,000. (This is
later revised to about 20,000.)
• Researchers also report that the DNA sequences
of any two human individuals are 99.9% identical.
 2003

On April 14, 2003, the

International Human Genome
Sequencing Consortium
announces the successful
completion of the Human
This is more
Genome than two years
Project.
ahead of schedule.
OUTCOMES OF HGP
 Who carried out the
Human Genome Project?
• The Human Genome Project could not have been
completed as quickly and effectively without the
dedicated participation of an international
consortium of thousands of researchers.
• In the United States, the researchers were funded by
the Department of Energy and the National
Institutes of Health, which created the Office for
Human Genome Research in 1988 (later renamed the
National Center for Human Genome Research in 1990
and then the National Human Genome Research
Institute in 1997).
• The sequencing of the human genome involved
researchers from 20 separate universities and research
centers across the United States, United Kingdom,
France, Germany, Japan and China. The groups in
these countries became known as the International
Human Genome Sequencing Consortium.
 How much did the Human
Genome Project cost?
• The initially projected cost for the Human
Genome Project was $3 billion, based on its
envisioned length of 15 years. While precise
cost-accounting was difficult to carry out,
especially across the set of international
funders, most agree that this rough amount
is close to the accurate number.
• The cost of the Human Genome Project, while in
the billions of dollars, has been greatly balanced
or compensate by the positive economic
benefits that genomics has yielded in the
ensuing decades. Such economic gains reflect
direct links between resulting products and
advances in the pharmaceutical and
biotechnology industries, among others.
 Did the HGP produce a perfectly complete
genome sequence?

• No. Throughout the Human Genome Project, researchers

continually improved the methods for DNA sequencing.
However, they were limited in their abilities to determine the
sequence of some stretches of human DNA (e.g., particularly
complex or highly repetitive DNA).
• In June 2000, the International Human Genome Sequencing
Consortium announced that it had produced a draft human
genome sequence that accounted for 90% of the human
genome. The draft sequence contained more than 150,000
areas where the DNA sequence was unknown because it could
not be determined accurately (known as gaps).
• In April 2003, the consortium announced that it had
generated an essentially complete human genome
sequence, which was significantly improved from the draft
sequence. Specifically, it accounted for 92% of the human
genome and less than 400 gaps; it was also more accurate.
• On March 31, 2022, the Telomere-to-Telomere (T2T)
consortium announced that had filled in the remaining gaps
and produced the first truly complete human genome
sequence. Great achievment!
How did the Human Genome Project
affect biological research in general?
The Human Genome Project (HGP) has had a profound and far-
reaching impact on biological research, revolutionizing our
understanding of genetics and its implications for human health and
disease. Here are some of the keyways the HGP has affected
biological research:
• Advanced Understanding of Genetics:
Gene Identification and Function: The HGP provided a
comprehensive map of the human genome, allowing researchers to
identify and locate specific genes responsible for various traits and
diseases. This knowledge has accelerated the pace of gene
discovery and functional analysis.
Genetic Variation: The project revealed the extent of genetic
variation among individuals, highlighting the complex interplay
between genes and environmental factors in shaping human traits
and susceptibility to diseases.
• Revolutionized Medical Research:
Disease Diagnosis and Treatment: The HGP has enabled the
development of new diagnostic tools and personalized
medicine approaches. By identifying genetic markers
associated with specific diseases, researchers can develop
targeted therapies and preventive strategies.
Pharmacogenomics: The study of how genetic variations
influence drug response has been significantly advanced by the
HGP. This knowledge allows for the development of more
effective and safer medications tailored to individual genetic
profiles.
• New Research Avenues:
Genomics and Bioinformatics: The HGP encouraged the
development of powerful genomic technologies and
bioinformatics tools. These advancements have opened new
avenues of research, such as comparative genomics,
metagenomics, and functional genomics.
Systems Biology: The HGP has contributed to the emergence of
systems biology, a field that aims to understand biological
systems as integrated networks of interacting components.
This approach has led to insights into complex biological
processes like cell signaling and metabolism.
• In summary, the Human Genome
Project has transformed biological
research by providing a wealth of
genetic information and accelerating
the pace of scientific discovery.
• Its impact continues to be felt in
various fields, from medicine and
agriculture to environmental science
and biotechnology.