Genetics

Imagine you work for the water company and you are called on to find the single leaking faucet in the United States. That, says molecular biologist Francis Collins of the University of Michigan in Ann Arbor, is the magnitude of the task he faced when he set out in 1985 to find the defective gene that causes cystic fibrosis, a fatal disease that is characterized by a buildup of mucus in the lungs.

Last month, Sen. John McCain dropped by “Saturday Night Live,” drawing laughs from his promise, if elected president, to fight expensive federal projects -- such as, he spoofed, a Department of Defense device to "jam gaydar." That was a joke. But some scientists are, in a way, working on gaydar, the supposed ability to discern whether a person is homosexual by reading subtle cues from their appearance. Just don't refer to it that way. The preferred term is "sexual orientation correlates."

Bone marrow transplants may cure many sufferers of beta thalassemia, a fatal illness of young adults brought on by a genetic defect that cripples the blood's ability to absorb oxygen, according to new research. The technique, a radical procedure commonly used to treat some deadly forms of cancer, was pioneered as a thalassemia treatment in the early 1980s. It involves destroying all blood-producing cells and injecting new cells from a donor. But if the technique fails, the patient usually dies.

Dr. Richard Houghten did not choose his parents wisely. His father died at 58, his mother at 51. One grandfather died at 57, another at 47. An uncle, three brothers and his sister all have Type 2 diabetes. He is 59. The awareness of his own mortality drives Houghten, president and director of the Torrey Pines Institute for Molecular Studies. It drives the rest of us too, of course, but Houghten and the other biotech cowboys on La Jolla's "Science Mesa" are actually doing something about it.

In the destitute months before and after the defeat of Nazi Germany, the blond, blue-eyed toddlers from the orphanage in this Saxon village walked along the rubble-strewn roadside each day, holding fast to a rope trailed by a matron to keep them together. The skinny foundlings caught the eye of a lonely war widow who eventually took one of the girls, Aud Rigmor Harzendorf, then 3 years old, into her home and her heart.

Blue eyes are typically associated with beauty, or perhaps Frank Sinatra. But to University of Wisconsin anthropologist John Hawks, they represent an evolutionary mystery. For nearly all of human history, everyone in the world had brown eyes. Then, between 6,000 and 10,000 years ago, the first blue-eyed baby was born somewhere near the Black Sea.

A recently discovered mutant gene causes 18% of Parkinson's disease cases in Ashkenazi Jews and 37% in North African Arabs -- a surprising finding because genetics had been thought to play only a small role in the disorder. The discovery will allow genetic counseling and early diagnosis of the disease in the affected groups, said Dr. Susan B.

2Amid the tumult of the delivery room, Rohit and Geeta Jain were calm about one thing: Their new baby was sure to be a boy. Six months earlier, the Jains had spent more than $300 for a test that screened a minute quantity of Geeta's blood for traces of male DNA. The testing company said it was 95% accurate in determining the sex of a baby, even as early as the eighth week of pregnancy. After six hours in the delivery room, Rohit gaped as his wife gave birth to a daughter.

A rare disorder that turns children into old people and often causes them to die in their teens has been linked to a single genetic mutation, a finding that may help science learn more about normal aging as well. The disorder, called Hutchinson-Gilford progeria syndrome, is caused by a single "misspelling" or misplaced DNA molecule within the human genome that contains 3 billion DNA units, said Dr.

Eric Miller's career as an Army Ranger wasn't ended by a battlefield wound, but his DNA. Lurking in his genes was a mutation that made him vulnerable to uncontrolled tumor growth. After suffering back pain during a tour in Afghanistan, he underwent three surgeries to remove tumors from his brain and spine that left him with numbness throughout the left side of his body. So began his journey into a dreaded scenario of the genetic age.

Generosity An Enhancement Richard Powers Farrar, Straus and Giroux: 296 pp., $25 Is there a biological basis to happiness? A genetic marker that disposes us toward joy? Such questions are at the heart of Richard Powers' 10th novel, "Generosity: An Enhancement," the story of Thassadit Amzwar, a 23-year-old Algerian woman living in Chicago who seems incapable of sadness -- until she becomes a media sensation and is slowly but irrevocably pushed to the edge. Thassa is a refugee, a survivor of enormous tragedy, and yet her enthusiasm is so infectious that it appears an emotional dysfunction.

It looked like an open-and-shut case. More than half the genes in the H1N1 virus behind the current flu outbreaks were traced to pigs. The first person known to be sickened with swine flu in Mexico, the outbreak's epicenter, lived near an industrial farm that produces almost a million hogs a year. The virus was quickly dubbed "swine flu." Officials in Egypt ordered destruction of all 300,000 of the country's pigs. Afghanistan's one known pig was quarantined.

Blue eyes are typically associated with beauty, or perhaps Frank Sinatra. But to University of Wisconsin anthropologist John Hawks, they represent an evolutionary mystery. For nearly all of human history, everyone in the world had brown eyes. Then, between 6,000 and 10,000 years ago, the first blue-eyed baby was born somewhere near the Black Sea.

A genetic analysis of a biopsy sample recently discovered in the Democratic Republic of the Congo has led researchers to conclude that the virus that causes AIDS has existed in human populations for more than a century, according to a study released Wednesday. The study, led by evolutionary biologist Michael Worobey of the University of Arizona in Tucson, puts the date of origin at around 1900, which is 30 years earlier than previous analyses.

Countering the prevailing theory that aging is the accumulation of wear and tear in cells, scientists studying worms have found that aging may be hard-wired, a sort of unintentional sabotage by genes gone wild. The study, published Thursday in the journal Cell, found that metabolic processes important during development may shift later in life in ways that harm the worms, causing them to age and die.

Researchers have identified a gene that may raise the risk of getting late-onset Alzheimer's disease by about 45% in people who inherit one copy of it. That form of the gene appears to hamper a brain cell's ability to take in calcium, according to a report Friday in the journal Cell.

When a falcon swoops from the sky to seize its prey, no one would mistake the predator for a gaudy parrot. Yet the secret kinship of falcons and parrots is one of many surprises in a landmark genetic study of 169 bird species published by Field Museum researchers. One likely consequence of the study in Friday's edition of the journal Science is a reordering of the field guides that many of America's 80 million bird-watchers use.

To save chocolate lovers from the agony of a potential candy bar shortage, candy giant Mars is investing $10 million in a project to develop cacao trees that fight drought, disease and poor harvests. Mars will announce today that it is partnering with IBM and the Department of Agriculture to sequence and analyze the entire cocoa genome. The team will identify the characteristics that make a better cacao tree. Then they plan to breed the genetically superior specimens. Mars plans to make the research results free and accessible as they become available through the Public Intellectual Property Resource for Agriculture, a group that supports agricultural innovation.

Last month, Sen. John McCain dropped by “Saturday Night Live,” drawing laughs from his promise, if elected president, to fight expensive federal projects -- such as, he spoofed, a Department of Defense device to "jam gaydar." That was a joke. But some scientists are, in a way, working on gaydar, the supposed ability to discern whether a person is homosexual by reading subtle cues from their appearance. Just don't refer to it that way. The preferred term is "sexual orientation correlates."

The last two years have seen an exponential increase in the rate of gene discovery, thanks in large part to the advancements in so-called genotyping chip technology. These small glass or silicon platforms have made quick and easy work of simultaneously analyzing hundreds of thousands of genetic variations that exist in the human genome. The screens detect single-letter changes in the DNA code known as single nucleotide polymorphisms, or SNPs (pronounced "snips").