Human Genome Project – Wikipedia, the free encyclopedia

The Human Genome Project (HGP) is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up human DNA, and of identifying and mapping the total genes of the human genome from both a physical and functional standpoint.[1] It remains the largest collaborative biological project.[2]

The first official funding for the Project originated with the US Department of Energys Office of Health and Environmental Research, headed by Charles DeLisi, and was in the Reagan Administrations 1987 budget submission to the Congress.[3] It subsequently passed both Houses. The Project was planned for 15 years.[4]

In 1990, the two major funding agencies, DOE and NIH, developed a memorandum of understanding in order to coordinate plans, and set the clock for initiation of the Project to 1990.[5] At that time David Galas was Director of the renamed Office of Biological and Environmental Research in the U.S. Department of Energys Office of Science, and James Watson headed the NIH Genome Program. In 1993 Aristides Patrinos succeeded Galas, and Francis Collins succeeded James Watson, and assumed the role of overall Project Head as Director of the U.S. National Institutes of Health (NIH) National Human Genome Research Institute. A working draft of the genome was announced in 2000 and a complete one in 2003, with further, more detailed analysis still being published.

A parallel project was conducted outside of government by the Celera Corporation, or Celera Genomics, which was formally launched in 1998. Most of the government-sponsored sequencing was performed in universities and research centres from the United States, the United Kingdom, Japan, France, Germany, Spain and China.[6] Researchers continue to identify protein-coding genes and their functions; the objective is to find disease-causing genes and possibly use the information to develop more specific treatments. It also may be possible to locate patterns in gene expression, which could help physicians glean insight into the body's emergent properties.

The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project, Applied Biosystems, Perlegen, Illumina, J. Craig Venter Institute, Personal Genome Project, and Roche-454.

The "genome" of any given individual is unique; mapping "the human genome" involves sequencing multiple variations of each gene.[7] The project did not study the entire DNA found in human cells; some heterochromatic areas (about 8% of the total genome) remain unsequenced.

The project began with the culmination of several years of work supported by the US Department of Energy, in particular workshops in 1984[8] of the US Department of Energy.[9] This 1987 report stated boldly, "The ultimate goal of this initiative is to understand the human genome" and "knowledge of the human is as necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine." The proposal was made by Dr. Alvin Trivelpiece and was approved by Deputy Secretary William Flynn Martin. This chart[10] was used in the Spring of 1986 by Trivelpiece, then Director of the Office of Energy Research in the Department of Energy, to brief Martin and Under Secretary Joseph Salgado regarding his intention to reprogram $4 million to initiate the project with the approval of Secretary Herrington. This reprogramming was followed by a line item budget of $16 million the following year. Candidate technologies were already being considered for the proposed undertaking at least as early as 1985.[11]

James D. Watson was head of the National Center for Human Genome Research at the National Institutes of Health in the United States starting from 1988. Largely due to his disagreement with his boss, Bernadine Healy, over the issue of patenting genes, Watson was forced to resign in 1992. He was replaced by Francis Collins in April 1993, and the name of the Centre was changed to the National Human Genome Research Institute (NHGRI) in 1997.

The $3-billion project was formally founded in 1990 by the US Department of Energy and the National Institutes of Health, and was expected to take 15 years.[12] In addition to the United States, the international consortium comprised geneticists in the United Kingdom, France, Australia, Japan and myriad other spontaneous relationships.[13]

Due to widespread international cooperation and advances in the field of genomics (especially in sequence analysis), as well as major advances in computing technology, a 'rough draft' of the genome was finished in 2000 (announced jointly by U.S. President Bill Clinton and the British Prime Minister Tony Blair on June 26, 2000).[14] This first available rough draft assembly of the genome was completed by the Genome Bioinformatics Group at the University of California, Santa Cruz, primarily led by then graduate student Jim Kent. Ongoing sequencing led to the announcement of the essentially complete genome in April 2003, 2 years earlier than planned.[15] In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in the journal Nature.[16]

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Human Genome Project - Wikipedia, the free encyclopedia