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July 5, 2000

On June 26, 2000, two teams of scientists made the historic announcement that they have assembled the complete human genome, containing a total of 3.12 billion base pairs of DNA. Celera Genomics Inc., a PE Corporation business in Maryland, and the non-profit international Human Genome Project worked independently to achieve this same result. Dr. J. Craig Venter, President and Chief Scientific Officer of Celera, and Dr. Francis Collins, Director of the National Human Genome Institute at the National Institutes of Health, made the announcement last week.

Sequencing of the human genome, which involved determination of the exact order of the four chemical bases (A, T, C and G) of long segments of human DNA, was completed in April, 2000. The assembly phase, whereby the location and order of the genetic code was determined, is now completed, and over 38,000 predicted genes have been confirmed. In the next phase, analysis and annotation of the human genome, these located genes will be further analyzed in order to begin understanding their function. Several thousand additional genes will also be identified and subsequently analyzed. It is estimated that there are at least 50,000 genes, and perhaps as many as 100,000 genes, in the entire human genome.

Celera Genomics Inc. assembled the human genome, which consists of 23 pairs of chromosomes, by utilizing the DNA of five individual donors, men and women from a variety of ethnic backgrounds. Celera’s scientists pioneered the "whole genome shotgun" technique, in which the entire human genome was sheared into small fragments that were sequenced and then assembled in order by using overlapping sequences. Celera also included data from GenBank, a public database created primarily by the public genome effort. Once the consensus genome data is published (which is expected later this year), it will be freely available to academic researchers via Celera’s web site.

The non-profit international Human Genome Project includes scientists from the United States, France, Germany, Japan, China and Great Britain. Approximately half of the project’s total funding for the sequencing and assembly of the human genome ($300 million USD) is provided by the US National Institutes of Health. The Human Genome Project’s scientists used a "hierarchal shotgun" approach to assemble the human genome. Individual large DNA fragments of known position were sheared into smaller fragments, sequenced, and then reassembled on the basis of overlapping regions.

Canada has an outstanding reputation in the identification and sequencing of specific genes. Several researchers across the country were the first in the world to identify a number of genes, while receiving strong financial support from the Medical Research Council of Canada through the Centres of Excellence program. About ten years ago, Dr. Lap-Chee Tsui’s research group at the Hospital for Sick Children in Toronto announced the discovery of the cystic fibrosis gene on chromosome 7. Dr. Tsui is now part of the Chromosome 7 Project at the hospital, and they have found other genes responsible for autism, leukemia, and other developmental disorders. The Hospital for Sick Children now also houses the Human Genome Database, an international electronic archive. In 1998, the Medical Research Council of Canada (MRC) developed the Genome Canada Initiative, committing $25 million in funding for genomic research over the next five years. Other federal funding councils, including the National Research Council, have agreed to participate in the development of the initiative.

For more information on research into the human genome, check out the following web sites:

The Major Players:

Celera Genomics

The Human Genome Organization

US National Human Genome Research Institute

The US Dept. of Energy


Publications on research, education, ethical issues, and medicine:
GenBank public database houses the human DNA sequence at the National Centre for Biotechnology Information

Research in Canada:

Genome Canada

The Chromosome 7 Project

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