Researchers at Washington University School of Medicine in St. Louis and other members of the International Human Genome Consortium today announced the successful completion of the Human Genome Project more than two years ahead of schedule.
By completing the Human Genome Project, researchers believe they are launching a new age of discovery that will transform human health. Knowing the order of the genetic building blocks — commonly abbreviated A, T, C and G (adenine, thymine, cytosine and guanine) — should allow scientists to learn more about human development and disorders such as heart disease, psychiatric illness and cancer. Already the genome sequencing effort has helped spur discoveries about breast cancer, colon cancer, prostate cancer, cystic fibrosis, Huntington’s disease, Parkinson’s disease and sickle cell disease.
The project, completed 50 years after James Watson and Francis Crick discovered the structure of DNA, succeeded in sequencing all of the DNA in human chromosomes. The sequence of more than 3 billion genetic “letters” carries the instructions for making and operating the human body, and errors or variations in the genome contribute to most types of disease.
Many believe that in the future patients will receive prescribed medical treatment based on their genes rather than on their age or weight. In addition to such individualized treatment, researchers hope genome-based research will enable medical science to develop highly effective diagnostic tools and a better understanding of how a person’s individual genetic make-up influences health or susceptibility to disease.
“The completed genome sequence is an extremely powerful database for the study of human biology,” says Richard K. Wilson, Ph.D., professor of genetics and of molecular microbiology and director of the Genome Sequencing Center at Washington University School of Medicine. “Because of limitations in technology, there are still small gaps in the sequence, but if you compare it to a 5,000 page book, it’s as if a few words are missing on a couple of pages. Those missing words, however, are not at critical points in the story, so this ‘finished’ sequence should tell us the story we need to know.”
With the sequence complete, Wilson says the challenge for researchers and scientists is to learn how to read the pages of this “book of life” in order to understand how all the various parts work together.
Wilson and colleagues at Washington University say the next steps will involve closely searching the more than 3 billion pieces of information in the human genome for clues about human disease and comparing genetic information about humans to information gathered from mapping and sequencing the genomes of other species.
Last year, the mouse genome was mapped and sequenced. Currently, Washington University’s Genome Sequencing Center is working on the chimpanzee and chicken sequences. In addition, the bacterium Salmonella typhimuriam and the plant Arabidopsis thaliana have been mapped and sequenced.
“By sequencing all of these genomes, we will identify genes that do certain jobs in particular animals, and by looking for similar DNA patterns among various species, we hope to isolate crucial genes that play key roles in making us sick or keeping us healthy,” Wilson says.
The project, which was launched in 1988, has made all of the information gathered by the researchers who worked on the Human Genome Project freely and publicly available over the Internet.
The institutions that form the International Human Genome Sequencing Consortium include:
1. Washington University School of Medicine Genome Sequencing Center, St. Louis, MO, USA
2. The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom
3. Whitehead Institute/MIT Center for Genome Research, Cambridge, MA, USA
4. US DOE Joint Genome Institute, Walnut Creek, CA, USA
5. Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics, Houston, TX, USA
6. RIKEN Genomic Sciences Center, Yokohama-city, Japan
7. Genoscope and CNRS UMR-8030, Evry Cedex, France
8. GTC Sequencing Center, Genome Therapeutics Corporation, Waltham, MA, USA
9. Department of Genome Analysis, Institute of Molecular Biotechnology, Jena, Germany
10. Beijing Genomics Institute/Human Genome Center, Institute of Genetics, Chinese Academy of Sciences, Beijing, China
11. Multimegabase Sequencing Center, The Institute for Systems Biology, Seattle, WA
12. Stanford Genome Technology Center, Stanford, CA, USA
13. Stanford Human Genome Center and Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
14. University of Washington Genome Center, Seattle, WA, USA
15. Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
16. University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA
17. University of Oklahoma’s Advanced Center for Genome Technology, Dept. of Chemistry and Biochemistry, University of Oklahoma, Norman, OK, USA
18. Max Planck Institute for Molecular Genetics, Berlin, Germany
19. Cold Spring Harbor Laboratory, Lita Annenberg Hazen Genome Center, Cold Spring Harbor, NY, USA
20. GBF – German Research Centre for Biotechnology, Braunschweig, Germany