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Imagine you keep waking up with a fierce urge to move your legs, each time further eroding your sleep quota and your partner’s patience. You have restless legs syndrome, a quaintly named disorder whose sufferers may get more respect now that its genetic basis has been identified. Two independent teams, one in Germany and one in Iceland, have identified three variant sites on the human genome which predispose people to the condition. The advance should help scientists understand the biological basis of the disorder, which could lead to new ideas for treatment. The new findings may also make restless legs...

FORGET genetic engineering. The new idea is synthetic biology, an effort by engineers to rewire the genetic circuitry of living organisms. The ambitious undertaking includes genetic engineering, the now routine insertion of one or two genes into a bacterium or crop plant. But synthetic biologists aim to rearrange genes on a much wider scale, that of a genome, or an organism’s entire genetic code. Their plans include microbes modified to generate cheap petroleum out of plant waste, and, further down the line, designing whole organisms from scratch. Synthetic biologists can identify a network of useful genes on their computer screens...

Imagine that you are depressed and see a psychiatrist who explains that you have clinical depression and would benefit from an antidepressant. So far, so good. But then the doctor tells you there is a 60 percent chance that you’ll feel better with this antidepressant and that it could take as long as four to six weeks to find out, during which time you’ll probably have some side effects from the drug. I have just described the state-of-the-art pharmacologic treatment of major depression in 2007. Don’t get me wrong; we have very effective and safe treatments for a broad array...

SARAHLYNN LESTER, 32, considers herself a supporter of abortion rights. She gives money to the National Abortion Rights Action League and volunteers for Planned Parenthood. But as a woman who continued a pregnancy after learning that her child would have Down syndrome, she also has beliefs about the ethics of choosing, or not choosing, certain kinds of children. “I thought it would be morally wrong to have an abortion for a child that had a genetic disability,” said Ms. Lester, a marketing manager in St. Louis. As prenatal tests make it possible to identify fetuses that will have mental retardation,...

Geneticists re-examining the first settlement of Australia and Papua-New Guinea by modern humans have concluded that the two islands were reached some 50,000 years ago by a single group of people who remained in substantial or total isolation until recent times. The finding, if upheld, would undermine assumptions that there have been subsequent waves of migration into Australia. Analyzing old and new samples of Aborigine DNA, which are hard to obtain because of governmental restrictions, the geneticists developed a detailed picture of the aborigines’ ancestry, as reflected in their Y chromosomes, found just in men, and their mitochondrial DNA, a...

Two rival teams of scientists have discovered a common genetic variation that increases the risk of heart disease up to 60 percent in people of European descent. The scientists say they hope a test for the variant can be developed to enable doctors to assess patients at risk more accurately and to recommend early interventions like cholesterol-lowering statins and methods to reduce blood pressure. Heart disease is the leading cause of death worldwide. The genetic variant is so common that some 50 percent of people in European populations carry one copy of it, and about 20 percent of people have...

As May dawns and the mothers among us excitedly anticipate the clever e-cards that we soon will be linking to and the overpriced brunches that we will somehow end up paying for, the following job description may ring a familiar note: Must be exceptionally stable yet ridiculously responsive to the needs of those around you; must be willing to trail after your loved ones, cleaning up their messes and compensating for their deficiencies and selfishness; must work twice as hard as everybody else; must accept blame for a long list of the world’s illnesses; must have a knack for shaping...

Britain and Ireland are so thoroughly divided in their histories that there is no single word to refer to the inhabitants of both islands. Historians teach that they are mostly descended from different peoples: the Irish from the Celts and the English from the Anglo-Saxons who invaded from northern Europe and drove the Celts to the country’s western and northern fringes. But geneticists who have tested DNA throughout the British Isles are edging toward a different conclusion. Many are struck by the overall genetic similarities, leading some to claim that both Britain and Ireland have been inhabited for thousands of...

Researchers have found that Rett syndrome, a severe form of autism, may not be so entirely beyond repair as supposed. In mice that carry the same genetic defect as human patients and have similar symptoms, the disease can be substantially reversed, even in adult mice, by correcting the errant gene. This is a surprising result for a neurological disease. Biologists generally assume that if the brain does not wire itself correctly at specific stages of development, the deficit can never be corrected. The treatment for the Rett mice would not work in people because it involved genetically engineering the mice...

MALTA, Mont. — The animals certainly looked like bison, with the characteristic humps and beards. But just to make sure, a pick-up truck slowly rolled up to them, and a bison wrangler shot a drug-filled dart into one of several calves. A few minutes later the anesthetized animal was on the ground, grunting and squirming. Several men warily moved in to hobble the animal and take blood samples. This bison wrangling was being done to test the genetics of a herd of 39 animals that is being used by the American Prairie Foundation as seed stock to re-create a large-scale...

Reunited at last! This is David, the brother I lost just 1,000 years ago Gene study is throwing a new light on our nation's history - and our personal ancestry, reports science editor Robin McKie Sunday December 31, 2006 The Observer (UK) A scientific revolution is taking place in the study of our ancient past. Once the preserve of academics who analysed prehistoric stones and crumbling parchment, the subject has been transformed by the study of our genes by scientists who are using the blood of the living to determine the actions of men and women centuries ago. In the...

A surprisingly recent instance of human evolution has been detected among the peoples of East Africa. It is the ability to digest milk in adulthood, conferred by genetic changes that occurred as recently as 3,000 years ago, a team of geneticists has found. The finding is a striking example of a cultural practice — the raising of dairy cattle — feeding back into the human genome. It also seems to be one of the first instances of convergent human evolution to be documented at the genetic level. Convergent evolution refers to two or more populations acquiring the same trait independently....

When our first son developed asthma as a 3-year-old, my husband and I felt pretty much blindsided. We were only a little less shocked when the same thing happened to our second son, at the same age. The disease turned out to be tenacious, and for years both boys needed inhalers or a nebulizer machine several times a day to prevent asthma attacks that could keep them up half the night, coughing and wheezing. Both had eczema, too, and the kind of food allergies — to nuts, peanuts and shellfish — that can lead to fatal reactions. What caused all...

Black women with uterine cancer are more likely to die than white women, even when the progression of the disease is equal and they are given identical treatments, researchers report. The reasons for the disparity are unclear. The racial difference in survival among women with uterine cancer, sometimes called endometrial cancer, is well known. The American Cancer Society estimates that 7 percent of the 41,000 cases of endometrial cancer last year were in black women, but they accounted for 14 percent of the 7,000 deaths. According to the National Cancer Institute, the five-year survival rate is 86 percent for white...

Rename That Gene ?LUNATIC fringe,? ?head case? and ?one-eyed pinhead? might sound like insults from the schoolyard or talk radio. But these are actually examples of the kind of oddball names that scientists give to genes they discover. The idea is to make the names unique and memorable ? with so many genes being discovered and described, a little color helps scientists tell them apart. But the trouble comes when science is transmuted into medicine; what works in the lab may be jarring in the clinic. The names are causing problems for doctors who have to counsel patients about genetic...

A MEDICAL journal in March published a study suggesting that drinking coffee can raise the risk of heart attack, but only for people with a gene that makes them slow metabolizers of caffeine. Experts called the finding intriguing, but said it needed to be validated by others and its health implications better understood. Still, Consumer Genetics, a company formed only a month earlier, is already advertising a genetic test that purports to tell consumers whether they can continue to enjoy their morning jolt. That is how fast things can move in the rapidly expanding, chaotic and largely unregulated world of...

Josephine Tesauro never thought she would live so long. At 92, she is straight backed, firm jawed and vibrantly healthy, living alone in an immaculate brick ranch house high on a hill near McKeesport, a Pittsburgh suburb. She works part time in a hospital gift shop and drives her 1995 white Oldsmobile Cutlass Ciera to meetings of her four bridge groups, to church and to the grocery store. She has outlived her husband, who died nine years ago, when he was 84. She has outlived her friends, and she has outlived three of her six brothers. Mrs. Tesauro does, however,...

A Conversation With Mary V. Relling MEMPHIS — In Mary V. Relling’s office in St. Jude Children’s Research Hospital sits a small ceramic statue of St. Jude Thaddeus, the patron saint of impossible causes. Dr. Relling, the head of the department of pharmaceutical sciences at St. Jude, has a fondness for impossible causes. Her own is pharmacogenetics, a clinical discipline in which doctors use high-tech genetic testing to custom-make drugs to patients’ individual needs. Though pharmacogenetics is controversial and not yet widely done, Dr. Relling, 46, travels the country advocating its use. At St. Jude, patients with leukemia are now...

The human body may seem to change little over the years, but beneath this deceptive calm, cells are in constant flux as old ones are discarded and new ones appear. How do the new recruits know where they are meant to go? Biologists at Stanford University say they have discovered a coordinate system in human cells that defines their position in the body. This seems to be the first time a cell-based positioning system has been reported for the adult body of any animal, though positioning systems that guide cells in embryogenesis are well known. The coordinate system, if confirmed,...

In the 30-plus years that Richard Atkinson has been studying obesity, he has always maintained that overeating doesn’t really explain it all. His epiphany came early in his career, when he was a medical fellow at U.C.L.A. engaged in a study of people who weighed more than 300 pounds and had come in for obesity surgery. “The general thought at the time was that fat people ate too much,” Atkinson, now at Virginia Commonwealth University, told me recently. “And we documented that fat people do eat too much — our subjects ate an average of 6,700 calories a day. But...