Published October 25, 2000
What makes us, us? It’s our unique microscopic bio-chemical blueprint in each cell, a complete set of instructions for our body’s construction and maintenance. It’s called the human genome, and scientists been mapped it!
This historic and monumental achievement is being heralded as the most profound in medical history. With this road map to genes on every chromosome, further study will reveal greater detail of the DNA miracle.
Understanding the human genome is a process, heretofore so enormous that specialized machines and computers were critical to help define its structure and organization.
The Human Genome Project, begun in 1988, is a worldwide 15-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. Project goals are to identify all genes in human DNA; determine the sequences of the numerous base pair chemical units; store this information in shared databases; develop tools for analyzing the data; transfer technologies to the private sector; and address the ethical, legal, and social issues (ELSI) that may arise from the project.
On June 26th, 2000, representatives from the international Human Genome Project (HGP) and the biotech company Celera, proclaimed to have successfully sequenced the human genome. It’s a significant beginning, but the “working draft” is only the barest essence about the life-building command-center of humankind.
Much more work is needed before genetic influences upon disease are revealed. Researchers anticipate that the complete map will usher an acceleration of medical knowledge to better predict, prevent, and treat illnesses.
Experts compare the human genome mapping project to the first moon landing in 1969. The real progress then was in space communication, not so much the actual landing.
The human genome map has spawned important, lasting advances in science and medicine. DNA sequencing machines will in do in 15 seconds that which once required years of methodical toil. So far it’s just interesting science without practicable applications. Not to worry; the reality of a human clone continues to be science fiction.
The job ahead is to decode 3,200 million units of chemicals that are the DNA in a human. Each unit is called a nucleotide represented by the letters A, T, C and G. Think of it as a code string of characters equivalent to two thousand copies of War and Peace. “It’s like being given the best book in the world, but it’s in Russian, and it’s incredibly boring to read,” said Ewan Birney of the European Bioinformatics Research Institute, Sanger Centre. Reading time: 26 years.
“A much bigger quest is identifying the meaning of all the various genes in the genome for our health and well-being,” said John Couch, CEO of DoubleTwist, at Berkeley, CA. Laboratories like Incyte andMillennium Pharmaceuticals also believe the study of geonomics will ultimately revolutionize medicine.
Two gene-research companies, Proteome and Celera Genomics, will collaborate to help scientists discover drugs more quickly by analyzing proteins, the chemicals that deliver the instructions from genes. Their unique databases of proteins within DNA is available worldwide by way of the Internet.
Proteomics, the study of proteins, has accelerated following the draft of the human genome map. While the human genome hosts approximately 100,000 genes, researchers say there are probably another one million associated proteins. Proteins are the workhorses in the human body, and better understanding them could lead to better health care.
“To find all the proteins and trace them back to the human condition is an incredible amount of information,” said Trevor Hawkins, co-director of the Department of Energy’s Joint Genome Sequencing Center in Walnut Creek, CA.
Developing tools to analyze proteins more quickly and economically is a stiff challenge for the new science of proteomics. Applied Biosystems and its ABI Prism 3700 machine spurred the race to map the human genome. The company hopes its newest Maldi Tof mass spectrometer will further scientific progress.
A Harvard project, known as “The Wall,” hopes to stockpile a clone of every gene in the human genome within five years. The group will give clones to academic researchers but charge companies a modest fee of about $50,000 per year for the information.
Although the Human Genome Draft contains gaps, it is a valuable scaffold for generating a quality reference genome sequence expected for completion by 2003 or earlier. An expansive body of data is continually being updated to the Internet [http://www.ornl.gov/hgmis and elsewhere online].
See the conclusion, next week, of Human Genome Project, Part 2