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                                  PART I
-------------------------------- GENET-news --------------------------------

TITLE:  International Consortium Completes Human Genome Project All Goals
        Achieved; New Vision for Genome Research Unveiled
SOURCE: International Human Genome Sequencing Consortium, USA
        http://www.genome.gov/11006929
DATE:   Apr 14, 2003

------------------ archive: http://www.gene.ch/genet.html ------------------


International Consortium Completes Human Genome Project All Goals Achieved;
New Vision for Genome Research Unveiled

BETHESDA, Md., April 14, 2003 - The International Human Genome Sequencing
Consortium, led in the United States by the National Human Genome
Research Institute (NHGRI) and the Department of Energy (DOE), today
announced the successful completion of the Human Genome Project more than
two years ahead of schedule.

Also today, NHGRI unveiled its bold new vision for the future of genome
research, officially ushering in the era of the genome. The vision will
be published in the April 24 issue of the journal Nature, coinciding with
the 50th anniversary of Nature's publication of the landmark paper by
Nobel Laureates James Watson and Francis Crick that described DNA's
double helix. Dr. Watson also was the first leader of the Human Genome Project

The international effort to sequence the 3 billion DNA letters in the
human genome is considered by many to be one of the most ambitious
scientific undertakings of all time, even compared to splitting the atom
or going to the moon.

"The Human Genome Project has been an amazing adventure into ourselves,
to understand our own DNA instruction book, the shared inheritance of all
humankind," said NHGRI Director Francis S. Collins, M.D., Ph.D., leader
of the Human Genome Project since 1993. "All of the project's goals have
been completed successfully - well in advance of the original deadline
and for a cost substantially less than the original estimates."

Aristides Patrinos, Ph.D., director of DOE's Office of Biological and
Environmental Research in the Office of Science, said, "Sequencing the
human genome was a pioneering venture with risks and uncertainties. But
its success has created a revolution - transforming biological science
far beyond what we could imagine. We have opened the door into a vast and
complex new biological landscape. Exploring it will require even more
creative thinking and new generations of technologies."

The flagship effort of the Human Genome Project has been producing the
reference sequence of the human genome. The international consortium
announced the first draft of the human sequence in June 2000. Since then,
researchers have worked tirelessly to convert the "draft" sequence into a
"finished" sequence. Finished sequence is a technical term meaning that
the sequence is highly accurate (with fewer than one error per 10,000
letters) and highly contiguous (with the only remaining gaps
corresponding to regions whose sequence cannot be reliably resolved with
current technology). That standard was first achieved for a human
chromosome when a team of British, Japanese and U.S. researchers produced
a finished sequence for human chromosome 22 in 1999.

The finished sequence produced by the Human Genome Project covers about
99 percent of the human genome's gene-containing regions, and it has been
sequenced to an accuracy of 99.99 percent. In addition, to help
researchers better understand the meaning of the human genetic
instruction book, the project took on a wide range of other goals, from
sequencing the genomes of model organisms to developing new technologies
to study whole genomes. As of April 14, 2003, all of the Human Genome
Project's ambitious goals have been met or surpassed.

When the Human Genome Project was launched in 1990, many in the
scientific community were deeply skeptical about whether the project's
audacious goals could be achieved, particularly given its hard-charging
timeline and relatively tight spending levels. At the outset, the U.S.
Congress was told the project would cost about $3 billion in FY 1991
dollars and would be completed by the end of 2005. In actuality, the
Human Genome Project was finished two and a half years ahead of time and,
at $2.7 billion in FY 1991 dollars, significantly under original spending
projections (excel file). This document requires the use of either MS-
Excel or a free Excel viewer.

"Never would I have dreamed in 1953 that my scientific life would
encompass the path from DNA's double helix to the 3 billion steps of the
human genome. But when the opportunity arose to sequence the human
genome, I knew it was something that could be done - and that must be
done," said Nobel Laureate James D. Watson, Ph.D., president of Cold
Spring Harbor Laboratory in Cold Spring Harbor, N.Y. "The completion of
the Human Genome Project is a truly momentous occasion for every human
being around the globe."

Besides delivering on the stated goals, the international network of
researchers has produced an amazing array of advances that most
scientists had not expected until much later. These "bonus"
accomplishments include: an advanced draft of the mouse genome sequence,
published in December 2002; an initial draft of the rat genome sequence,
produced in November 2002; the identification of more than 3 million
human genetic variations, called single nucleotide polymorphisms (SNPs);
and the generation of full-length complementary DNAs (cDNAs) for more
than 70 percent of known human and mouse genes.

The International Human Genome Sequencing Consortium included hundreds of
scientists at 20 sequencing centers in China, France, Germany, Great
Britain, Japan and the United States. The five institutions that
generated the most sequence were: Baylor College of Medicine, Houston;
Washington University School of Medicine, St. Louis; Whitehead Institute/
MIT Center for Genome Research, Cambridge, Mass.; DOE's Joint Genome
Institute, Walnut Creek, Calif.; and The Wellcome Trust Sanger Institute
near Cambridge, England.

"The enormity of the Human Genome Project is unprecedented in biology.
The international vision and collaboration of the scientists involved
played a crucial role in the project's success," said Mark Walport, M.D.,
director designate of The Wellcome Trust, which led the Human Genome
Project in the United Kingdom. "The genome is the common thread that
connects us all, so it is only fitting that the sequence has been given
to us by scientists from all corners of the earth."

All of the sequence data generated by the Human Genome Project has been
swiftly deposited into public databases and made freely available to
scientists around the world, with no restrictions on its use or
redistribution. The information is scanned daily by researchers in
academia and industry, as well as by commercial database companies
providing information services to biotechnologists.

"From the beginning, one of the operating principles of the Human Genome
Project has been that the data and resources it has generated should
rapidly be made available to the entire scientific community," said
Robert Waterston, M.D., Ph.D., of the University of Washington, Seattle.
"Not only does the rapid release of data promote the best interests of
science, it also maximizes the benefits that the public receives from
such research."

In 1996, at a meeting in Bermuda, Dr. Waterston and John Sulston, Ph.D.,
then director of the Sanger Centre (now The Wellcome Trust Sanger
Institute), led the International Human Genome Sequencing Consortium to
adopt the so-called "Bermuda Principles," which expressly call for
automatic, rapid release of sequence assemblies of 2,000 bases or greater
to the public domain.

Scientists have been quick to mine this new trove of genomic data, as
well as to utilize the genomic tools and technologies developed by the
Human Genome Project. For example, when the Human Genome Project began in
1990, scientists had discovered fewer than 100 human disease genes.
Today, more than 1,400 disease genes have been identified.

For scientists seeking to understand the role of genetics in human health
and disease, the Human Genome Project's finished sequence represents a
significant advance over the "working draft" that was announced in June
2000. The working draft covered 90 percent of the gene-containing part of
the sequence, 28 percent of which had reached finished form, and
contained about 150,000 gaps. The finished version of the human genome
now contains 99 percent of the gene-containing sequence, with the missing
parts essentially contained in less than 400 defined gaps.

These remaining gaps represent regions of DNA in the genome with unusual
structures that cannot be reliably sequenced with current technology.
These regions, however, appear to contain very few genes. Closing these
gaps will require individual research projects and new technologies,
rather than industrial-scale efforts of the Human Genome Project. The
high-throughput sequencing of the human genome has thus reached its
natural conclusion.

"This is the day that our planning group dreamed of," said Bruce Alberts,
Ph.D., chairman of the 1988 National Research Council Committee on
Mapping and Sequencing the Human Genome, which produced the original
recommendations for the Human Genome Project. "And the quality of the
sequence would have amazed us. In 1988, we weren't sure that accuracy
rates of 99.9 percent were possible, and we were uncertain that
continuity over distances of millions of base pairs could be achieved.
The finished human sequence is a fabulous outcome. Biomedical researchers
now have tremendous foundation on which to build the science and medicine
of the 21st century." Dr. Alberts is now the president of the National
Academy of Sciences.

In addition to the improved accuracy, the average DNA letter now sits on
a stretch of 27,332,000 base pairs of uninterrupted, high-quality
sequence - about 334 times longer than the 81,900 base-pair stretch that
was available in the working draft. Access to uninterrupted stretches of
sequenced DNA can make a major difference to researchers hunting for
genes, dramatically cutting the effort and expense required to search
regions of the human genome that may contain small and often rare
mutations involved in disease.

"The Human Genome Project represents one of the remarkable achievements
in the history of science. Its culmination this month signals the
beginning of a new era in biomedical research," said Eric Lander, Ph.D.,
director of the Whitehead-MIT Center for Genome Research. "Biology is
being transformed into an information science, able to take comprehensive
global views of biological systems. With knowledge of all the components
of the cells, we will be able to tackle biological problems at their most
fundamental level."

The essentially complete version of the human genome sequence also
represents a major boon to the growing field of comparative genomics :
researchers are attempting to learn more about human genetic makeup and
function by comparing our genomic sequence to that of other organisms,
such as the mouse, the rat or even the fruit fly.

"One of the most powerful tools for understanding our own genome is to
study it within the context of a much larger framework. That framework is
being created by ongoing efforts to sequence and analyze the genomes of
many other organisms," said Richard Gibbs, Ph.D., director of Baylor
College of Medicine's Human Genome Sequencing Center. "As we identify the
similarities - and the differences - among the genes of mammals and other
organisms, we will begin to gain valuable new insights into human
evolution, as well as human health and disease."

The impact of the Human Genome Project, however, extends far beyond
laboratory analysis. Under the guidance of Dr. Watson, the Human Genome
Project became the first large scientific undertaking to dedicate a
portion of its budget for research to the ethical, legal and social
implications (ELSI) of its work. NHGRI and DOE each set aside 3 to 5
percent of their genome budgets to study how the exponential increase in
knowledge about human genetic make-up may affect individuals,
institutions and society. An example of how ELSI research has helped to
inform public policy is the fact that more than 40 states in the United
States have passed genetic non-discrimination bills, many based on model
language that grew out of this research. These efforts will be even more
crucial in the coming years as the results of genomic research begin to
appear in the clinic.

"Achieving the goals of the Human Genome Project is a historic milestone.
But this is no time to rest and relax," said Dr. Collins. "With this
foundation of knowledge firmly in place, the medical advances promised
from the project can now be significantly accelerated."

To spur such acceleration, NHGRI's "A Vision for the Future of Genomics
Research" sets forth a series of "Grand Challenges" intended to energize
the scientific community in using the newfound understanding of the
genome to uncover the causes of disease and to develop bold new
approaches to the prevention and treatment of disease. The plan was the
outcome of more than a year of intense discussions with nearly 600
scientific and public leaders from government, academia, non-profit
organizations and the private sector.

In the publication in Nature, the challenges facing genomic research are
depicted as a three-story house rising from the foundation of the Human
Genome Project. The three floors, representing the three major thrusts of
this new vision - Genomics to Biology, Genomics to Health and Genomics to
Society - are interconnected by vertical supports, representing
computational biology, ELSI, education, training, technology development
and resources. (Nature, April 14, 2003, online publication)

Many of the challenges in the vision are aimed at utilizing genome
research to combat disease and improve human health. The recommendations
include calls for researchers to work toward:
- New tools to allow discovery in the near future of the hereditary
contributions to common diseases, such as diabetes, heart disease and
mental illness.
- New methods for the early detection of disease.
- New technologies that can sequence the entire genome of any person for
less than $1,000.
- Wider access to tools and technologies of "chemical genomics" to
improve the understanding of biological pathways and accelerate drug
discovery.

NHGRI and its partners in genome research have already begun tackling a
number of these challenges. For example, in November 2002, a team of
researchers from six nations launched the International HapMap Project ,
an effort to produce a map of common human genetic variations aimed at
speeding the search for genes that contribute to cancer, diabetes, heart
disease, schizophrenia and many other common conditions.

"The completion of the Human Genome Project should not be viewed as an
end in itself. Rather, it marks the start of an exciting new era - the
era of the genome in medicine and health," said Dr. Collins. "We firmly
believe the best is yet to come, and we urge all scientists and people
around the globe to join us in turning this vision into reality."

NHGRI's U.S. partner in the Human Genome Project, DOE, has also developed
its own forward-looking plan for genome research. The DOE plan, published
in the April 11 issue of the journal Science, is focused on understanding
the ways in which microbes can provide new opportunities for developing
clean energy, reducing climate change and cleaning the environment. To
achieve that vision, DOE has begun the "Genomes to Life " program, which
will combine research in biology, engineering and computation with the
development of novel facilities for high-throughput biology projects.

NHGRI is one of the 27 institutes and centers at the National Institutes
of Health, an agency of the Department of Health and Human Services
(DHHS). Additional information about NHGRI can be found at its Web site,
www.genome.gov.


                                  PART II
-------------------------------- GENET-news --------------------------------

TITLE:  Final human genome sequence released
SOURCE: NewScientist, UK, by Andy Coghlan
        http://www.newscientist.com/news/news.jsp?id=ns99993621
DATE:   Apr 14, 2003

------------------ archive: http://www.gene.ch/genet.html ------------------


Final human genome sequence released

This time it is the real thing, scientists promise - the complete
sequence of human DNA, as perfectly rendered as it ever will be.

Much publicity was given to the announcements of the draft human genome,
and then its formal publication, but the final version will be officially
launched on Monday in Washington DC.

"What we've got now is what we'll have for all eternity," says Francis
Collins, director of the US National Human Genome Research Institute and
the head of the consortium of 16 international institutions that
collaborated to sequence the code.

Now, there are no substantial holes left in the string of three billion
base units that make up our chromosomes and determine our biology. There
are still parts that are technically unsequenceable, says Collins, "but
it's only about 1.5 per cent. That's what we called the finishing line
when we began this enterprise, and now we've actually done it."


Highly polished

The largest single contributor to the project was the UK's Wellcome Trust
Sanger Institute, which carried out nearly one-third of the work. Its
director, Allan Bradley, says: "Completing the human genome is a vital
step on a long road but the eventual health benefits could be phenomenal.

"Just one part of this work - the sequencing of chromosome 20 - has
already accelerated the search for genes involved in diabetes, leukaemia
and childhood eczema," he notes.

Jane Rogers, head of sequencing at the Sanger Institute says: "The
working draft allowed researchers to kick-start a multitude of biomedical
projects. Now they have a highly polished end product, which will assist
them even more. It's a bit like moving from a first-attempt demo music
tape to a classic CD."

The raw sequence is freely available on the web. But researchers will
have to wait up to a year for the first analysis of it. "We're still
discussing the timing on this," Collins says. A broad analysis could be
published, or detailed chromosome-by-chromosome papers could be released.

In a forward-looking article to be published in Nature on Thursday,
Collins says that as analyses roll in of our genes and the proteins they
produce, we need to avoid the patenting controversies that dogged the
task of sequencing. "We may be headed for a re-run if we're not careful,
and this time we need to be more pro-active" in pre-empting trouble, he says.