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Is The End Of Disease In Sight?

It appears unraveling the secrets of the entire human genetic code was the easy part. Now scientists say successfully applying the "book of life" to the benefit of mankind - curing diseases, pinpointing which genes do what and perfecting gene splicing - is still years down the genomic road.

With Monday's announcement that the entire human genetic code has been assembled, researchers now have a thrilling to-do list for the 21st century.

The information could be used to cure cancer, Alzheimer's disease or diabetes. It could give patients valuable information about their susceptibility to heart disease, schizophrenia or high blood pressure. It could reveal in detail how an adult human being arises from a single cell, functions through a lifetime and dies.

But it could take decades before such dreams become reality.

"I would guess, seven to eight years you and I - if we're interested - will find out what particular conditions we're at risk for," Francis Collins, of the Human Genome Project, said Tuesday on CBS News' The Early Show. "Give us another 10 years and the drugs that we currently use will be replaced by those that are targeted on a genomic view."

President Clinton joined a government project and private venture Monday in announcing the virtual completion of the first rough map of the human genetic code, an achievement the president called "a day for the ages."

DNA in Numbers

  • There are three billion letters in the DNA code in every one of the 100 trillion cells in the human body
  • If all of the DNA in the human body were put end to end, it would reach to the sun and back more than 600 times
  • The information would fill a stack of paperback books 200 feet high or 200 500-page telephone directories
  • The four letters of the DNA alphabet (A, C, G and T) carry the instructions for making all organisms, with each set of three letters corresponding to a single amino acid
  • There are 20 different building blocks (amino acids) used in an array of combinations to produce proteins as different as keratin in hair and hemoglobin in blood
  • The vast majority (97 percent) of the DNA in the human genome has no known function
  • Between humans, DNA differs by only 0.2 percent (1 in 500 letters), which takes into account that human cells have two copies of the genome
  • Human DNA is 98 percent identical to that of chimpanzees
    Source: Reuters Limited
  • After 10 years and $250 million, scientists said they have finished a working draft of the human genome. The genes have not actually been decoded but entered, letter by letter, into an enormous computer database.

    The public effort headed by Collins has mapped 97 percent of the human genome and thoroughly covered, or sequenced, 85 percent. The for-profit rival, Celera Genomics of Rockville, Md., also announced Monday that it has completed 99 percent of the genetic sequence.

    Celera began its work last fall, using an approach that turned out to be faster than conventional methods.

    "I spent 10 years trying to find one gene. Francis has spent 10 years trying to find one gene. That 10 years I took with all my colleagues and hundreds of millions of dollars of government funding is now a 15-second computer search on the computer," Celera chief scientist and president Craig Venter said. "That's a new start.

    Scientists involved in both projects intend to publish their results jointly later this year. They will also convene a meeting to share what they do know about how the genes work.

    The goal of both teams is to identify and place into proper order the 3.12 billion chemical base pairs present in human DNA and to identify within that DNA the thousands of human genes. The base pairs are made up of four types of nucleotides, called adenine, thymine, cytosine and guanine. They are abbreviated A, T, C and G in the scientific description of the genome.

    It is the order and sequence of these bases within the 23 pairs of human chromosomes that make up the genetic code.

    In the near term, the new information is expected to revolutionize drug development, making it much easier for pharmaceutical companies to target their products at the actual causes of disease. Today, most drugs are developed by a trial-and-error method that simply throws thousands of compounds at a biochemical problem until one fixes it.

    "If you think of any disease that comes to mind - except maybe trauma - every disease has some hereditary component," Collins said. "We have a chance to go to the basic molecular causes and develop therapies much more precisely targeted to what's wrong and tailor them."

    Researchers are also pursuing gene therapy, which would replace or supplement defective genes with correct copies. But researchers have found it difficult to find an efficient way to deliver corrected genes to cells where they are needed; they remain optimistic that effective methods will be found.

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    In the coming years and decades, researchers hope to determine:

  • Which genes do what. Genes code for proteins, which do the actual work of the body by building tissues and catalyzing biological reactions. In many cases, a gene will be valuable only when scientists understand what protein it synthesizes and what that protein does.

  • How many genes exist. Estimates vary from 30,000 to 200,000.
  • The role of "junk" DNA. Only about 3 percent of the genetic information actually encodes proteins. Another small percentage regulates genetic activity, turning other genes on and off. The remainder may consist of typographic errors that have arisen in the genetic code over billions of years, strings of "spacers" that increase the reliability of the gene copying process or something completely unexpected.
  • Where and when genes are activated. Any given cell only uses a fraction of all the human genes, and which ones are turned on determines what type of cell it is. A heart cell, for example, uses a set of genes that allow it to contract in response to electrical signals. An immune cell uses genes that help it attack germs. A cancer cell turns on genes that allow it to reproduce uncontrollably.

    © 2000 CBS Worldwide Inc. All Rights Reserved. This material may not be published, broadcast, rewritten, or redistributed. The Associated Press and Reuters Limited and contributed to this report

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