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. (HGP Goals)
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.
“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. (See List)
“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.
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