Science decodes human mystery Gene sleuths explain how we're designed There has been a renewed confirmation of the remarkable unity of humanity, regardless of race, gender or nationality. Every person shares 99.99 percent of his or her genetic code with all other people, a paper in the journal Science reports. And people from different racial groups can have more in common genetically than people of the same race. The other research will be presented in the journal Nature. February 12, 2001 BY ROBERT S. BOYD FREE PRESS WASHINGTON STAFF WASHINGTON -- Heralding a new era in biology and medicine, two rival teams of scientists are to present today their first interpretations of the human genome, the complex set of minuscule instructions that specify a person. These initial findings on how humans are built -- the first since the breaking of the genetic code was announced in June -- will be published later this week in two scientific journals. Among the findings: Humans have about 30,000 genes, far fewer than the 100,000 or so that were expected and barely twice as many as the fruit fly. There has been a renewed confirmation of the remarkable unity of humanity, regardless of race, gender or nationality. Every person shares 99.99 percent of his or her genetic code with all other people, a paper in the journal Science reports. And people from different racial groups can have more in common genetically than people of the same race. The other research will be presented in the journal Nature. "It is clear that what is called 'race,' although culturally important, reflects just a few traits determined by a tiny fraction of our genes," said the author of the Science paper, Svante Paabo, a German expert on evolutionary genetics. These first comprehensive portraits of the human genetic code allow "some questions to be resolved and new mysteries to emerge," the lead paper in Nature declares. The 40 scientific reports are the first fruits of an intensive effort by researchers around the world to make sense of -- and find practical uses for -- the listing of most of the 3 billion bases in the human genetic code. The entire code is known as the genome. A copy of the genome, the famous double helix of DNA, is coiled up in every cell in the body. It contains the instructions for building that cell and making it do its job. The reports, totaling hundreds of pages accompanied by colorful tables and charts, come a little more than half a year after rival teams of public and private researchers around the globe announced that they separately had determined the proper order, or sequence, of 95 percent of the bases -- A's, C's, G's and T's -- that make up the human genetic alphabet. One of the teams, a 16-nation public consortium, headed by the University of Michigan's Francis Collins, will publish its preliminary analysis of the genome in Thursday's edition of Nature, a British journal. Collins is on leave from the school to be director of the U.S. National Institute of Health's Human Genome Project. The other group is a private team headed by Craig Venter, chief executive officer of Celera Genomics Corp. The team's reports will be published in Friday's edition of Science, a publication of the American Association for the Advancement of Science. The reports were not supposed to be made public until today, but a British newspaper, the Observer, violated the embargo on Sunday. Although the two teams used different methods, their portraits of the genome are almost identical. "Never before have we published a collection of papers as informative or as breathtaking in the scope of what it reveals about human life," said Nature's editor in chief, Philip Campbell. "Every editor dreams of a day like today." Eric Lander, a geneticist at the Whitehead Institute in Cambridge, Mass., wrote in Nature: "We find it humbling to gaze upon the human sequence as it comes into focus. In principle, the string of genetic bits holds long-sought secrets of human development, physiology and medicine. In practice, our ability to transform such information into understanding remains woefully inadequate." Several of the reports acknowledged that sequencing the genome is only the beginning of a vast scientific enterprise. Genes, they say, are only a parts list for the construction of a human being. Genes provide the instructions for making the proteins -- far more numerous and complicated biological compounds -- that do the real work of building tissue and making organs function properly. As a result, research on proteins -- known as proteomics -- is now exploding in government, academic and commercial laboratories. "The future belongs to proteomics," Stanley Fields, a researcher at the Howard Hughes Medical Institute in Seattle wrote in Science. A major puzzle in the reports is how a relatively few genes can produce the far greater number of proteins a human being requires. The latest estimates of the gene population range from 23,000 to 39,000, but the final number is expected to be around 30,000. The low count means that a person has barely twice as many genes as a fruit fly , less than twice as many as a worm -- and only five times as many as a single-celled bacterium. A common roadside weed, thale cress, has 26,000 genes, almost as many as a person. (((((((( Key discoveries February 12, 2001 Humans have only about 30,000 genes, much lower than the 100,000 or so genes scientists were expecting. Inherited genetic mutations arise about twice as often in men than in women. Scientists are finding that genes instruct numerous proteins to build tissue and organs. The study of proteins is booming. ))))))))) What does it all mean? February 12, 2001 So science now knows much about our genes -- with so much more that needs to be learned. What will be the effect? Cures: Mental illness, addiction, and even criminal traits ( Yuk !!!!! -CB )can be found inside the genetic code. "Ultimately, the human genome sequence will revolutionize psychology and psychiatry," said Dr. Peter McGuffin, coauthor of an analysis in the upcoming edition of the journal Science. McGuffin, a researcher at the Institute of Psychiatry at Kings College in London, and other experts contend that finding genes that influence behavior may lead to drugs that can treat or prevent some of society's major problems. "The sequencing of the human genome will improve our ability to identify the genetic risk factors ...for a whole variety of conditions, from addiction to criminality to antisocial personality," said Dr. Eric Nestler, chairman of the department of psychiatry, University of Texas, Southwest Medical Center in Dallas. "This is going to be an enormous advance for this field." Instead of the current one-size-for-all pharmaceuticals, itis possible for drugs to be specifically tailored to fit the unique pattern of genes in an individual patient, McGuffin said. Fixing the problems early: Mutations in the human genome predispose or cause at least 1,500 conditions, ranging from diabetes and asthma to cancer and heart disease. The connection between gene mutation and disease will become much clearer now, experts say. In the future, newborns may be screened for treatable genetic diseases and "children at high risk of coronary artery disease can be identified and treated to prevent changes in their vascular walls during adulthood," thus preventing heart attacks, according to Dr. Leena Peltonen of the University of California at Los Angeles, and Dr. Victor McKusick at Johns Hopkins University in Baltimore. It may now be possible, said Barbara Trask of the Hutchinson Cancer Center for medical science to pinpoint in each patient the genes that have gone awry and caused cancer, and then to design a treatment specifically for that problem. ((((((( Experts, patients fear discrimination Gene info could sway employers and insurers February 12, 2001 BY PAUL RECER ASSOCIATED PRESS WASHINGTON -- Mapping the human genome opens a new era for medical science -- and a new frontier for potential discrimination. New genetic research may make it possible to identify an individual's lifetime risk of cancer, heart attack and other diseases. Experts say they worry that this information could also be used to discriminate in hiring, promotions or insurance. Employers and insurers could save millions of dollars if they could use predictive genetics to identify in advance, and then reject, workers or policy applicants who are predisposed to develop chronic disease. Thus, genetic discrimination could join the list of other forms of discrimination: racial, ethnic, age and gender. Fear of such discrimination already is affecting how people view the medical revolution promised by mapping the human genome. A Time/CNN poll found last summer that 75 percent of 1,218 people in the United States surveyed did not want insurance companies to know their genetic code, and 84 percent wanted that information withheld from the government. "There has been widespread fear that an individual's genetic information will be used against them," said Sen. Bill Frist, R-Tenn. To improve the quality of health care, "we must begin taking steps to eliminate patients' fears," said Frist, the only physician in the Senate. A recent national survey of 2,133 employers by the American Management Association found that seven are using genetic testing for either job applicants or employees, according to the journal Science. Many experts contend the only solution to potential genetic discrimination is a new federal law that specifically prohibits it. Frist and Sen. Olympia Snowe, R-Maine, are planning to introduce legislation that would prevent insurance companies from requiring genetic testing and ban the use of genetic information to deny coverage or to set rates. A similar bill, the Genetic Information Nondiscrimination in Health Insurance Act, passed the Senate in 2000 as part of an appropriations bill, but the provision later was removed. Writing this week in the journal Science, Sens. James Jeffords, R-Vt., and Tom Daschle, D-S.D., say they both favor legislation prohibiting genetic discrimination. _______________________________________________ CrashList website: http://website.lineone.net/~resource_base
