|
Tibetans live at altitudes of 13,000 feet, breathing air that has 40 percent less oxygen than is available at sea level, yet suffer very little mountain sickness. The reason, according to a team of biologists in China, is human evolution, in what may be the most recent and fastest instance detected so far (click to read more).
If you were going to live to be 100, would you want to know it?
When it becomes affordable to have one’s genome sequenced, perhaps in a few years, a longevity test, though not a foolproof one, may be feasible, if a new claim holds up. Scientists studying the genomes of centenarians in New England say they have identified a set of genetic variants that predicts extreme longevity with 77 percent accuracy.
The centenarians had just as many disease-associated variants as shorter-lived mortals, so their special inheritance must be genes that protect against disease, said the authors of the study, a team led by Paola Sebastiani and Thomas T. Perls of Boston University. Their report appears in Thursday’s issue of Science (click to read more).
Although the pandemic H1N1 "swine" flu that emerged last spring has stayed genetically stable in humans, researchers in Asia say the virus has undergone genetic changes in pigs during the last year and a half.
The fear is that these genetic changes, or reassortments, could produce a more virulent bug (click to read more).
On the premiere episode of Top Chef’s seventh season last night, there was a moment when judge Tom Colicchio dismissed one contestant’s dish with a single complaint: “I couldn’t get past the salt.”
It’s not the first time he’s said a dish was “way too salty.” How could these skilled chefs keep making such a seemingly simple mistake? Perhaps it’s just the stress of being in an intense, highly publicized competition. Or perhaps the line between “salty” and “too salty” is shakier than most of us realize. Genetics, it turns out, toys with our taste buds in several different ways. (Lisa provided a great primer on the genetics of taste a few weeks ago.
(Click to read more).
Italian archaeologists believe they have found the remains of the artist Caravaggio, 400 years after his death as they hope to finally solve the mystery of how he died.
After a year-long investigation, researchers are 85 per cent sure that bones found in a church crypt in Tuscany are those of the artist.
Scientists from four Italian universities sifted through around 200 sets of human remains they found in the ossuary of the crypt near Porto Ercole, on the Tuscan coast.
They then used carbon dating to identify bones belonging to men in their thirties – Caravaggio died at the age of 39 in 1610.
They extracted DNA and compared it with DNA taken from living descendants of the artist, many of whom still live in his hometown of Caravaggio in northern Italy (Click to read more).
Ten years after President Bill Clinton announced that the first draft of the human genome was complete, medicine has yet to see any large part of the promised benefits.
For biologists, the genome has yielded one insightful surprise after another. But the primary goal of the $3 billion Human Genome Project — to ferret out the genetic roots of common diseases like cancer and Alzheimer’s and then generate treatments — remains largely elusive. Indeed, after 10 years of effort, geneticists are almost back to square one in knowing where to look for the roots of common disease (Click to read more).
Borrowing methods developed to study the genetics of human disease, researchers have concluded that dogs were probably first domesticated from wolves somewhere in the Middle East, in contrast to an earlier survey suggesting dogs originated in East Asia.
This finding puts the first known domestication — that of dogs — in the same place as the domestication of plants and other animals, and strengthens the link between the first animal to enter human society and the subsequent invention of agriculture about 10,000 years ago.
A Middle Eastern origin for the dog also fits in better with the archaeological evidence, and has enabled geneticists to reconstruct the entire history of the dog, from the first association between wolves and hunter gatherers some 20,000 years ago to the creation by Victorian dog fanciers of many of today’s breeds (click to read more).
A simple DNA test may predict whether someone is more likely to lose weight on a low fat or a low carbohydrate diet, say US researchers.
The results from the small preliminary study of 101 women showed those on the best diet for their genes lost two to three times more weight than the rest.
The results are being presented at an American Heart Association conference.
Experts said the findings tied in with previous studies, but further work should be carried out.
The emerging field of "nutrigenomics" looks at how food interacts with genes.
It has long been known that people react to certain nutrients differently according to their genetic makeup (click to read more).
The complete genomes of five southern Africans have been decoded, almost doubling the number of published human DNA sequences. The Africans include four Bushmen hunter-gatherers, known as !Gubi, G/aq’o, D#kgao and !Ai, the odd symbols representing different clicking sounds in Bushmen languages. The fifth person, a Bantu, is none other than Archbishop Desmond Tutu.
The individuals were selected by Vanessa M. Hayes of the University of New South Wales in Australia and Stephan C. Schuster and Webb Miller of Pennsylvania State University; the genomes were decoded by Richard A. Gibbs and colleagues at the Baylor College of Medicine in Houston.
Dr. Hayes said Archbishop Tutu was selected because of his keen interest in medicine and because his parents come from the two largest Bantu groups in South Africa, the Sotho-Tswana and the Nguni.
Bantu speakers originated in West Africa and began to migrate southward some 5,000 years ago, displacing the Bushmen, who were until recently hunter-gatherers.
Archbishop Tutu turns out to have Bushman mitochondrial DNA, a genetic element passed down through the female line. This Bantu-Bushman marriage was probably in the distant past since most of the rest of his genome is Bantu, the researchers said Wednesday in a telephone news conference. Their report is published in the journal Nature.
African genomes are of particular interest for understanding human genetic history because they have more variation in their DNA than other populations. Everyone outside Africa is descended from a small group that left some 50,000 years ago, carrying away only a small sample of the available genetic diversity (click to read more).
King Tutankhamun, the boy pharaoh, was frail, crippled and suffered “multiple disorders” when he died at age 19 in about 1324 B.C., but scientists have now determined the most likely agents of death: a severe bout of malaria combined with a degenerative bone condition.
The researchers said that to their knowledge “this is the oldest genetic proof of malaria in precisely dated mummies.” Several other mummies in the study also showed DNA evidence for the presence of the malaria parasite Plasmodium falciparum, perhaps not surprising in a place like the Nile Valley.
The application of advanced radiological and genetic techniques to royal Egyptian mummies marks a new step in the ever deepening reach of historical inquiry through science (click to read more).
The genome of a man who lived on the western coast of Greenland some 4,000 years ago has been decoded, thanks to the surprisingly good preservation of DNA in a swatch of his hair so thick it was originally thought to be from a bear.
This is the first time the whole genome of an ancient human has been analyzed, and it joins the list of just eight whole genomes of living people that have been decoded so far. It also sheds new light on the settlement of North America by showing there was a hitherto unsuspected migration of people across the continent, from Siberia to Greenland, some 5,500 years ago.
The Greenlander belonged to a Paleo-Eskimo culture called the Saqqaq by archaeologists. Using his genome as a basis, a team of researchers from the University of Copenhagen determined that the Saqqaq man’s closest living relatives were the Chukchis, people who live at the easternmost tip of Siberia. His ancestors split apart from Chukchis some 5,500 years ago, according to genetic calculations, implying that the Saqqaq people’s ancestors must have traveled across the northern edges of North America until they reached Greenland (click to read more).
Scientists have analysed DNA extracted from the remains of a 30,000-year-old European hunter-gatherer.
Studying the DNA of long-dead humans can open up a window into the evolution of our species (Homo sapiens).
But previous studies of this kind have been hampered by scientists' inability to distinguish between the ancient human DNA and modern contamination.
In Current Biology journal, a German-Russian team details how it was possible to overcome this hurdle.
Svante Paabo, from the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and colleagues used the latest DNA sequencing techniques to study genetic information from human remains unearthed in 1954 at Kostenki, Russia (click to read more).
An Argentine judge has ordered the heirs to a powerful media empire to take DNA tests to establish if they are victims of a forced adoption scheme.
Under the country's former regime, babies were often given to families considered loyal to the military.
Rights groups believe the two children of media mogul Ernestina Herrera de Noble were taken from political prisoners who gave birth in custody (click to read more).
* The disappeared (los desaparecidos)
People blessed with youthful faces are more likely to live to a ripe old age than those who look more than their years, work shows.
Danish scientists say appearance alone can predict survival, after they studied 387 pairs of twins.
The researchers asked nurses, trainee teachers and peers to guess the age of the twins from mug shots.
Those rated younger-looking tended to outlive their older-looking sibling, the British Medical Journal reports.
Survival advantage
The researchers also found a plausible biological explanation for their results.
Key pieces of DNA called telomeres, which indicate the ability of cells to replicate, are also linked to how young a person looks (click to read more).
There is a clear link between living to 100 and inheriting a hyperactive version of an enzyme that prevents cells from ageing, researchers say.
Scientists from the Albert Einstein College of Medicine in the US say centenarian Ashkenazi Jews have this mutant gene.
They found that 86 very old people and their children had higher levels of telomerase which protects the DNA.
They say it may be possible to produce drugs that stimulate the enzyme (click to read more).
Of the 20,000 genes in the human genome, few are more fascinating than FOXP2, a gene that underlies the faculty of human speech.
All animals have an FOXP2 gene, but the human version’s product differs at just 2 of its 740 units from that of chimpanzees, suggesting that this tiny evolutionary fix may hold the key to why people can speak and chimps cannot (click to read more).
Genes that are passed on by fathers may be shortening the lifespans of their offspring, research has suggested.
Scientists have discovered that mice with two biological mothers but no father live about 30 per cent longer than usual, in an experiment that could have implications for understanding human ageing (click to read more).
A critically ill Turkish boy has had his life saved after scientists were able to read his genome quickly and work out that he had a wrong diagnosis.
The scientists writing in the journal, Proceedings of the National Academy of Sciences, say they completed the analysis of his blood in just 10 days.
They were able to see that he had a mutation on a gene that coded for a gut disease and tell his doctors.
Clinical tests proved that the boy had the disease and he is now recovering (click to read more)
.
Gene therapy can be particularly effective in treating inherited sight problems in children, fresh trials show.
US doctors treating 12 patients with a rare genetic eye disorder were able to significantly improve vision in the youngest.
The study, published in The Lancet, builds on work carried out by doctors at London's Moorfields Eye Hospital.
The eye is proving to be a particularly successful target for gene therapy.
The principle is simple: to replace a defective gene and restore function to a part of the body affected by a genetic disorder (click to read more).
How did early humans who migrated from Africa survive in the colder climates of Europe, Asia and the New World? According to a new UC Irvine study, it may be the same reason some people today are more prone to obesity, Alzheimers disease and the effects of aging.
In the Jan. 9, 2004, issue of Science, a UCI research team reports that key mutations in the mitochondrial DNA (mtDNA) of human cells may have helped our migrating ancestors adapt to more northerly climates, and ultimately link people with this ancestral history to specific diseases.
Found outside the cells nucleus, mitochondria are the power plants of cells that are responsible for burning the calories in our diet. The cellular energy is used for two purposes: to generate heat to maintain our body temperature and to synthesize ATP (adenosine triphosphate), a chemical form of energy that permits us to do work such as exercise, think, write, and make and repair cells and tissues. The mtDNAs are the blue prints for our mitochondrial power plants and determine the proportion of the calories in our diet that are allocated to generate body heat versus work (click to read more).
Genetic flaws that increase the risk of the most common form of childhood leukaemia have been uncovered by British scientists.
The three variants each raise the risk by between 30% and 60%, said the Institute of Cancer Research team.
But they stressed that other things, such as childhood infections, may also play a role (click to read more).
Scientists have hailed the discovery of one of the most important genetic links to breast cancer after finding a gene that is thought to play a role in more than half of all tumours.
The gene is also implicated in the development of half of bowel and prostate cancers and a quarter of ovarian and bladder cancers.
The discovery was described as a major step forward by cancer charities in figuring out how cancer develops.
Dr Paul Edwards, of the department of pathology at the University of Cambridge, who discovered the gene with colleagues, said that it provided vital information about how some cancers spread.
The gene, NRG1 (neuregulin-1), is located on chromosome 8, one of the packages of DNA that houses genes within a cell. Normally, NRG1 works as a “guard”, suppressing cancerous tumours. Experts have noticed that cancerous cells are missing part of chromosome 8 — the section carrying the NRG1 gene (click to read more).
Scientists have used gene therapy to achieve full color vision in two squirrel monkeys that were born unable to tell red from green.
The technique could someday be used on people with colorblindness or other vision problems.
All Male Squirrel Monkeys Are Colorblind
The monkeys, named Sam and Dalton, could see only blue and yellow before they were treated.
All male squirrel monkeys are born with this type of color blindness. They lack a receptor in their eyes that would let them see red and green. Female squirrel monkeys do have the receptor and can see the whole spectrum.
Researchers at the University of Washington developed a gene therapy technique to reprogram some of the color receptors in the male monkeys' eyes (Click to read more).
When I wrote up my recent interview with Anne Wojcicki (right) yesterday, I only really had space to report the most eye-catching thing she told me: that 23andMe, the personal genomics company she co-founded, is considering a discounted service for doctors to familiarise them with genomic medicine.
I'll return to that subject later in this post, but I thought I'd first share Anne's thoughts on another subject we covered in our conversation: the ethics of genotyping children (Click to read more).
The first words ever spoken, so fable holds, were a palindrome and an introduction: “Madam, I’m Adam.”
A few years ago palindromes — phrases that read the same backward as forward — turned out to be an essential protective feature of Adam’s Y, the male-determining chromosome that all living men have inherited from a single individual who lived some 60,000 years ago. Each man carries a Y from his father and an X chromosome from his mother. Women have two X chromosomes, one from each parent.
The new twist in the story is the discovery that the palindrome system has a simple weakness, one that explains a wide range of sex anomalies from feminization to sex reversal similar to Turner’s syndrome, the condition of women who carry only one X chromosome (Click to read more).
A new tool has emerged that could give investigators around the world a way to stop the illegal trade in threatened and endangered species. The idea is that customs agents can send samples of items made from animal products — like crocodile skin boots or antelope hide bags — to a DNA analysis lab where researchers can determine exactly what species the product or meat is from.
This kind of analysis is now possible because researchers at the American Museum of Natural History (AMNH) in New York City have identified a specific section of DNA that is unique to each species. By analyzing this "barcode of life," they can determine if the skin is from an endangered antelope or one that's allowed to be hunted (Click to read more).
A genetic breakthrough raises hope of easing suffering for people with chronic lung disease - and maybe those just fighting a common cold.
The biological reason why the lungs of people with conditions such as asthma and cystic fibrosis often clog up with thick mucus has been unclear.
But Cincinnati Children's Hospital researchers have identified the main genetic switch behind the build-up (Click to read more).
Two potentially key genes linked to the development of Alzheimer's disease have been uncovered by UK researchers.
It is the first gene clue to the condition in 16 years and has prompted scientists to rethink their theories on how the disease develops.
The genes were pinpointed in a study of 16,000 DNA samples and are known to be implicated in inflammation and cholesterol breakdown (Click to read more).
Got milk? If you do, take a moment to ponder the true oddness of being able to drink milk after you're a baby.
No other species but humans can. And most humans can't either.
The long lists of food allergies some people claim to have can make it seem as if they're just finicky eaters trying to rationalize likes and dislikes. Not so. Eggs, peanuts, tree nuts, fish, shellfish soy and gluten all can wreak havoc on the immune system of allergic individuals, even causing a deadly reaction called anaphylaxis.
But those allergic reactions are relatively rare, affecting an estimated 4% of adults.
Milk's different.
First off, most people who have bad reactions to milk aren't actually allergic to it, in that it's not their immune system that's reponding to the milk.
Instead, people who are lactose intolerant can't digest the main sugar —lactose— found in milk. In normal humans, the enzyme that does so —lactase— stops being produced when the person is between two and five years old. The undigested sugars end up in the colon, where they begin to ferment, producing gas that can cause cramping, bloating, nausea, flatulence and diarrhea.
If you're American or European it's hard to realize this, but being able to digest milk as an adult is one weird genetic adaptation (Click to read more).
One of the many tragedies of Alzheimer's disease is that patients don't know until it's too late that they actually have the condition. By the time the first signs of forgetfulness and confusion set in, experts believe, the disease has already been ravaging the brain for a decade or more, causing irreversible damage.
But researchers at the Cleveland Clinic report that they may have found a way to identify those most at risk of developing the neurological disorder long before symptoms develop — simply by asking them whether they recognize celebrities such as Britney Spears and Johnny Carson. It turns out that when people who are at highest risk of Alzheimer's try to recognize a famous name, their brains activate in very different ways from those of people who aren't at risk. And scientists can actually see this difference using functional magnetic resonance imaging, or fMRI (Click to read more).
The prospect of a human baby with three biological parents has moved closer after scientists created monkeys using a technique that one day could stop children from inheriting severe genetic diseases.
The birth of four healthy macaque monkeys in the US offers the strongest evidence yet that DNA can be transplanted safely from one egg to another to correct genetic defects that damage health.
The successful experiment in a close human relative suggests that it should be possible within a few years to use the method to help women who carry genetic disorders to avoid passing them to their children.
It should allow scientists to replace faulty “cellular batteries” called mitochondria, which affect about 1 in 6,500 births. While most mitochondria defects have mild effects, some can trigger severe brain, heart, muscle and liver conditions, as well as cancer, diabetes, blindness and deafness (Click to read more).
The genetics underpinning a smoker's risk of developing lung cancer have been further unpicked by UK scientists.
Three areas of DNA were found to be linked with lung cancer risk in smokers, two of them influencing the type of cancer which develops (Click to read more).
The standard treatment for infection with the hepatitis C virus is a grueling 48-week course of the antiviral drugs interferon and ribavirin that gives some patients flulike symptoms and severe depression. The treatment varies in its effectiveness, being much more successful in Americans of European descent than in African-Americans.
A Duke University team has now uncovered the principal reason for the disparity between the races. It lies not in differing compliance to the treatment or access to health care, as some have assumed, but in genetics (Click to read more).
Margaret Thatcher famously got by on four hours a night as Prime Minister, while George W. Bush wanted at least eight. The differing need for sleep extends even to those with countries to run.
Scientists may now be able to explain why: new research suggests that some of us are genetically programmed to spend longer in the Land of Nod than others.
Researchers have for the first time identified a genetic mutation linked to the amount of sleep people need.
Those who carry the mutation sleep on average two hours less a night — but still function perfectly well (Click to read more).
Few people spend their honeymoon catching and drawing blood from village dogs up and down Africa. But Ryan and Corin Boyko, two anthropologists at the University of California, Davis, chose this way to collect valuable genetic data that is casting a new light on the domestication of dogs (Click to read more).
Scientists have found a way to block the genetic flaw that causes the most common form of muscular dystrophy.
Tests on mice found injecting them with a compound that neutralises the faulty gene's activity led to muscle cells working more effectively.
The US team's work, published in Science, could be a step towards treatments to reverse the symptoms of the disease (Click to read more).
The evolutionary secret of how the dachshund got its short legs has been uncovered by scientists with the discovery of a gene that explains the diminutive stature of at least 19 breeds.
Dachshunds, corgis, basset hounds and Pekingese are among the common breeds that owe their short legs to the mutation of a single gene that occurred several thousand years ago.
The discovery offers insight into the way genetic mutations drive evolution and may have implications for understanding dwarfism in humans (Click to read more).
Scientists have decoded the genetic blueprint of two parasitic flatworms responsible for thousands of deaths worldwide every year.
Schistosoma mansoni and Schistosoma japonicum both cause the debilitating disease schistomiasis.
The work has already uncovered possible targets for new treatments to combat the disease, which causes symptoms such as fever and fatigue.
The international study features in the journal Nature.
Schistosomiasis cases top 200 million every year, with 20 million people are seriously disabled by severe anaemia, chronic diarrhoea, internal bleeding and organ damage caused by the worms and their eggs, or the immune system reactions they provoke.
In sub-Saharan Africa alone it kills 280,000 people each year (Click to read more).
At the Eating Disorders Unit at the Maudsley Hospital in London, anorexia is not seen as a social disorder — or even primarily a psychological one. While most American treatment providers blame perfection-seeking parents and the media's idealization of hollow-cheeked actresses for eating disorders (among other dysfunctional behaviors), researchers at Maudsley believe the root cause has little to do with social pressure. Rather, they think anorexia is better explained by heredity — perhaps by some of the same genes associated with autism (Click to read more).
This week, an al Qaeda spokesman revealed he has Jewish ancestry. How DNA testing is unearthing Judaism in the roots of unlikely family trees—and even prompting some people to convert.
When Adam Gadahn, al Qaeda's American spokesman, issued a statement this weekend revealing that his grandfather was Jewish, it caused jaws to drop. But it’s hardly the first time Jewish ancestry has turned up in unexpected places: Madeleine Albright, Fidel Castro, and John Kerry all claim Jewish heritage.
Now, the ranks of “hidden Jews” are suddenly growing. As the personal use of DNA testing gains popularity, more people are unearthing Jewish roots they never knew they had, and such discoveries are raising the question of whether there is in fact a genetic and biological connection to Jewish affiliation—and whether DNA discoveries will make more hidden genetic Jews convert to the religion and become practicing Jews, or at least begin to feel more strongly affiliated with the culture (Click to read more).
Those gray hairs on top of older noggins may be a sign of stress from exposure to chemicals, radiation and the ravages of aging, Japanese researchers said. The silver strands come with a benefit: protection from cancer.
The fur of mice dosed with radiation or given various chemicals turned gray prematurely because stem cells in their hair follicles also matured too early, the scientists reported today in the journal Cell. This caused them to lose their ongoing ability to make new melanin, the pigment that gives color to hair and skin.
The stem cells of the irradiated mice stopped copying themselves. This may be a way of preventing cells whose DNA has been damaged by toxins from becoming cancerous, said David Fisher, chief of the department of dermatology at Harvard Medical School-affiliated Massachusetts General Hospital (click to read more).
US scientists say they have successfully reversed the effects of Alzheimer's with experimental drugs.
The drugs target and boost the function of a newly pinpointed gene involved in the brain's memory formation.
In mice, the treatment helped restore long-term memory and improve learning for new tasks, Nature reports.
The same drugs - HDAC inhibitors - are currently being tested to treat Huntington's disease and are on the market to treat some cancers.
They reshape the DNA scaffolding that supports and controls the expression of genes in the brain.
The Alzheimer's gene the drugs act upon, histone deacetylase 2 (HDAC2), regulates the expression of a plethora of genes implicated in plasticity - the brain's ability to change in response to experience - and memory formation (click to read more).
Scientists looking at the genes of the new swine flu virus say they don't see certain markers of virulence that made the 1918 pandemic strain so deadly, the Centers for Disease Control and Prevention said Friday.
"We do not see the markers for virulence that were seen in the 1918 virus," said Dr. Nancy Cox , CDC flu chief.
"However, we know that there is a great deal that we do not understand about the virulence of the 1918 virus or other influenza viruses," that caused serious illnesses, she said. "So we are continuing to learn." (Click to read more)
* Virus’s tangled genes straddle continents, raising a mystery about its origins by Donald g. McNeil jr
Locations for the Garden of Eden have been offered many times before, but seldom in the somewhat inhospitable borderland where Angola and Namibia meet.
A new genetic survey of people in Africa, the largest of its kind, suggests, however, that the region in southwest Africa seems, on the present evidence, to be the origin of modern humans. The authors have also identified some 14 ancestral populations (Click to read more).
The financial crisis has led to a lot of finger-pointing—at bankers, government regulators, and scam artists. But if you've lost money in the market, consider this: The fault may lie partly in your genes.
New brain-chemistry data suggest a link between an individual's investing style and his or her genetic makeup. By testing saliva for certain genetic markers, scientists can tell whether you're likely to get into riskier investments or to put your money into something safer. Risk-taking has been linked to variations in the genes that regulate the brain's serotonin and dopamine—chemicals that affect mood, anxiety, and addiction (Click to read more).
A new DNA test for the virus that causes cervical cancer does so much better than current methods that some gynecologists hope it will eventually replace the Pap smear in wealthy countries and cruder tests in poor ones.
Not only could the new test for human papillomavirus, or HPV, save lives; scientists say that women over 30 could drop annual Pap smears and instead have the DNA test just once every 3, 5 or even 10 years, depending on which expert is asked.
Their optimism is based on an eight-year study of 130,000 women in India financed by the Bill and Melinda Gates Foundation and published last week in The New England Journal of Medicine. It is the first to show that a single screening with the DNA test beats all other methods at preventing advanced cancer and death (Click to read more).
Sergey Brin, the billionaire co-founder of Google, says he plans to contribute money and his DNA to a large study intended to reveal the genetic underpinnings of Parkinson’s disease.
The study, to be announced Thursday, will be conducted by 23andMe, a company co-founded and co-managed by Mr. Brin’s wife, Anne Wojcicki. The company offers a personal genomics service, in which it scans the DNA submitted by its customers and provides information on their health risks, ancestry and other traits.
Now it hopes to use its service and its growing database of consumer DNA to conduct medical research. The company hopes to recruit 10,000 people with Parkinson’s disease for the study (Click to read more).
When Jo Symons was found to have cancer, there was an extra complication: doctors could not tell what type of cancer she had.
Tumors were found in her neck, chest and lymph nodes. But those tumors had spread there from someplace else, and her doctors could not determine whether the original site was the breast, the colon, the ovary or some other organ. Without that knowledge, they could not offer optimal treatment.
Such mystery tumors are estimated to account for 2 percent to 5 percent of all cancer, or at least 30,000 new cases a year in the United States, making them more common than brain, liver or stomach cancers. For patients, such a diagnosis can amount to a double agony — not only do they have cancer, but doctors cannot treat it properly.
“You don’t believe that in the 21st century it is possible for the medical profession not to know where the cancer is coming from,” said Ms. Symons’s husband, John.
But now 21st-century medicine may help. New genetic tests may pinpoint the origin of the mystery tumors. The tests, which cost more than $3,000 each, still need to prove their worth better, experts say, though some of them are hopeful (Click to read more).
Scientists report that they have reconstructed the genome of Neanderthals, a human species that was driven to extinction some 30,000 years ago, probably by the first modern humans to enter Europe.
The Neanderthal genome, when fully analyzed, is expected to shed light on many critical aspects of human evolution. It will help document two important sets of genetic changes: those that occurred between 5.7 million years ago, when the human line split from the line leading to chimpanzees, and 300,000 years ago, when Neanderthals and the ancestors of modern humans parted ways; and second, the changes in the human line after it diverged from Neanderthals (Click to read more).
ONE OF THE PERKS of being a psychologist is access to tools that allow you to carry out the injunction to know thyself. I have been tested for vocational interest (closest match: psychologist), intelligence (above average), personality (open, conscientious, agreeable, average in extraversion, not too neurotic) and political orientation (neither leftist nor rightist, more libertarian than authoritarian). I have M.R.I. pictures of my brain (no obvious holes or bulges) and soon will undergo the ultimate test of marital love: my brain will be scanned while my wife’s name is subliminally flashed before my eyes.
Last fall I submitted to the latest high-tech way to bare your soul. I had my genome sequenced and am allowing it to be posted on the Internet, along with my medical history. The opportunity arose when the biologist George Church sought 10 volunteers to kick off his audacious Personal Genome Project. The P.G.P. has created a public database that will contain the genomes and traits of 100,000 people. Tapping the magic of crowd sourcing that gave us Wikipedia and Google rankings, the project seeks to engage geneticists in a worldwide effort to sift through the genetic and environmental predictors of medical, physical and behavioral traits (Click to read more).
Two scientists, drawing on their own powers of observation and a creative reading of recent genetic findings, have published a sweeping theory of brain development that would change the way mental disorders like autism and schizophrenia are understood.
The theory emerged in part from thinking about events other than mutations that can change gene behavior. And it suggests entirely new avenues of research, which, even if they prove the theory to be flawed, are likely to provide new insights into the biology of mental disease (Click to read more).
An international research team has identified two genetic variations that appear to increase a person's risk of developing lung cancer by up to 60 percent, they reported on Sunday.
In April the same researchers identified another gene that raised lung cancer risk and they said their latest finding was relevant for both smokers and non-smokers.
"We are looking at differences in the DNA that makes you more or less likely to develop lung cancer," said Paul Brennan, a cancer epidemiologist at the World Health Organisation's International Agency for Research on Cancer (Click to read more).
The Phoenicians, enigmatic people from the eastern shores of the Mediterranean, stamped their mark on maritime history, and now research has revealed that they also left a lasting genetic imprint.
Scientists reported Thursday that as many as 1 in 17 men living today on the coasts of North Africa and southern Europe may have a Phoenician direct male-line ancestor.
These men were found to retain identifiable genetic signatures from the nearly 1,000 years the Phoenicians were a dominant seafaring commercial power in the Mediterranean basin, until their conquest by Rome in the 2nd century B.C.
The Phoenicians who founded Carthage, a great city that rivaled Rome. They introduced the alphabet to writing systems, exported cedars of Lebanon for shipbuilding and marketed the regal purple dye made from the murex shell. The name Phoenica, for their base in what is present-day Lebanon and southern Syria, means “land of purple.” (Click to read more).
When the Maryland State Police lab told her that the evidence didn't contain enough bodily fluid for a complete DNA profile, Shelly Progovitz was crushed. A man who had brutally raped a 12-year-old girl behind a middle school in Waldorf in 1996 and then tied her hands and feet and forced a sock into her mouth would never be convicted for what he had done.
But Progovitz, a crime scene technician, did not let her disappointment keep her on the sidelines long. That night, she went home and searched on Google for something she had read about in scientific journals but had never used: "touch DNA" (Click to read more).
WASHINGTON - The anthrax killer spurred a whole new branch of science that could give the United States a head start in the next emergency — whether it is investigating more bioterrorism or even a food poisoning outbreak.
It is called microbial forensics, a way of using a germ's genetics to help exonerate or incriminate much as human DNA can today.
Microbes — whether bacteria like salmonella and E. coli, or viruses like HIV — have unique genetic signatures that can allow scientists to tell even the most closely related strains apart. The forensics side comes from adding crime-investigation techniques to this advanced microbiology used by disease detectives (click to read more).
DNA taken from the bodies of people killed in the 2001 anthrax attacks helped lead investigators to Bruce Ivins, who oversaw the highly specific type of toxin in an Army lab, a government scientist said Sunday.
Using new genome technology, researchers looked at samples of cells from the victims to identify the kind of anthrax Ames strain that killed them, the scientist said. They noticed very subtle differences in the DNA of the strain used in the attacks than in other types of Ames anthrax.
With that, investigators linked the specific type of anthrax back to Ivins' biological weapons lab at Ft. Detrick in Frederick, Md., where he oversaw its use and handling for research (Click to read more).
James P. Evans, a physician and molecular biologist, teaches genetics at the University of North Carolina School of Medicine. He also directs the school's Clinical Cancer Genetics Services, counseling patients about genetic testing. On weekends Dr. Evans, under the auspices of the Advanced Science and Technology Adjudication Resource Center ?a Congressionally mandated program ?teaches the nation's judges about genetics. Dr. Evans, 49, was interviewed recently in New York; he had come to speak at the World Science Festival (Click to read more).
Comprehensive lifestyle changes including a better diet and more exercise can lead not only to a better physique, but also to swift and dramatic changes at the genetic level, U.S. researchers said on Monday.
In a small study, the researchers tracked 30 men with low-risk prostate cancer who decided against conventional medical treatment such as surgery and radiation or hormone therapy.
The men underwent three months of major lifestyle changes, including eating a diet rich in fruits, vegetables, whole grains, legumes and soy products, moderate exercise such as walking for half an hour a day, and an hour of daily stress management methods such as meditation.
As expected, they lost weight, lowered their blood pressure and saw other health improvements. But the researchers found more profound changes when they compared prostate biopsies taken before and after the lifestyle changes.
‘’After the three months, the men had changes in activity in about 500 genes — including 48 that were turned on and 453 genes that were turned off (Click to read more).
Instead of nervously staring at the long line of bald domes in their family tree, young men who are worried about losing their hair can now take a DNA test that will determine their odds of going bald before 40.
HairDX, an Irvine, Calif.-based company that created the test, says the test searches for a genetic variant that 95% of all bald men share. Men who test positive for the genetic variant are at 60% risk of going bald before 40. The test also identifies whether a man has a less-common variant that means an 85% chance of not going bald by that age.
For $149, men can swab the inside of their cheek and send off the DNA sample to the company, which sends back results three to four weeks later that give all the hairy details about what is in store for their scalp. The test, released in January, is available on the company website and some doctors' offices (Click to read more).
For the first four years of his life, Zachary Townsley was a medical mystery. His mother, Janine, noticed something strange about him at six months: he had "a little hump in his back." The family pediatrician said not to worry, but by one year, Zachary had a new symptom: at an age when most babies were starting to walk, he wasn't crawling. The Townsleys went to a neurologist, but he couldn't find a diagnosis that would explain Zachary's troubles. The results of a chromosomal test came back clean. Occupational therapists, physical therapists, speech therapists, an audiologist: none of them could tell the Townsleys what their son had. By the time he was almost 4, Zachary was walking, but with bent knees. He had developed a speech impediment, and his once angelic facial features had begun to grow in odd proportions. Other kids stared at him on the playground. Clearly, something was wrong. But what on earth was it?
Zachary's story is sadly familiar to millions of Americans who suffer from—well, it's hard to say what they suffer from, and that's the problem. Twenty-five million people are currently afflicted with rare diseases, and for many of them, a proper diagnosis can take years or decades, if it comes at all. Some of these conditions are so new that they don't have names yet. Those that do have names—Blackfan Diamond anemia, periodic paralysis, Hermansky-Pudlak syndrome—may strike just a few hundred or a few thousand people. They can mimic much more common ailments, masquerading as high blood pressure or fatigue. Patients who have them may be misunderstood and misjudged, and they have no choice but to go untreated: doctors throw up their hands in confusion, friends wonder if the symptoms are all in the head. Often, when patients do finally get a correct diagnosis, irreversible damage has already been done. "If they go for 20 years without a diagnosis they can accrue all sorts of complications," says Dr. William Gahl, the clinical director of the National Human Genome Research Institute. "By the time they know what it is they have, they're medical disasters."
Last month it seemed these unfortunate patients might be getting a major new source of help. On May 19, the National Institutes of Health revealed its new Undiagnosed Diseases Program, an interdisciplinary center for studying, diagnosing and ultimately treating patients with unidentified illnesses (Click to read more).
If you’re the type of person who perks up in the morning at just the smell of fresh-brewed coffee, you are not alone. There are some laboratory rats you should meet.
While countless studies have looked at what occurs when coffee is drunk, far fewer have examined the effects of sniffing the aroma, which contains many volatile compounds. So Han-Seok Seo of Seoul National University and colleagues exposed stressed-out rats that had been deprived of sleep to coffee bean aroma and then evaluated the effects by performing genetic and protein analyses on brain tissue. They compared the results with tests on other rats, including some that were sleep deprived but not exposed to coffee.
As they report in The Journal of Agricultural and Food Chemistry, they found that the expression levels of 13 selected genes were different between the stress-with-coffee rats and the stress-only animals. With 11 of the genes, levels were higher for the stress-with-coffee group; with the other two the levels were lower (Click to read more).
Red wine may be much more potent than was thought in extending human lifespan, researchers say in a new report that is likely to give impetus to the rapidly growing search for longevity drugs.
The study is based on dosing mice with resveratrol, an ingredient of some red wines. Some scientists are already taking resveratrol in capsule form, but others believe it is far too early to take the drug, especially using wine as its source, until there is better data on its safety and effectiveness.
The report is part of a new wave of interest in drugs that may enhance longevity. On Monday, Sirtris, a startup founded in 2004 to develop drugs with the same effects as resveratrol, completed its sale to GlaxoSmithKline for $720 million.
Sirtris is seeking to develop drugs that activate protein agents known in people as sirtuins (Click to read more).
People with a family history of colon cancer carry the emotional burden of knowing they have twice the risk of developing the disease themselves. But now, a new study may ease some of their anxiety. Patients with a family history of colon cancer are also more likely to survive the disease.
The surprising paradox, published in Wednesday’s Journal (Click to read more).
Two-year-old Nate Liao has spent his young life swathed in bandages from head to toe.
Nate has a rare and deadly genetic disease that prevents his skin from attaching to his body. The slightest friction against his skin, such as the rubbing of the seam from his shirt, gave him blisters the size of water balloons. Swallowing anything but baby food tore his esophagus.
Yet today, seven months after an experimental therapy at the University of Minnesota Children's Hospital Fairview, the New Jersey toddler is eating Oreos. He's slurping chicken noodle soup, cleaning his bowl and holding up his spoon for more. He's wearing a regular T-shirt. And, for at least a few hours a day, some of his bandages are coming off (Click to read more).
A swatch of hair, so thick and tangled it could have belonged to man or bear, has provided answers about a mysterious culture and its origins half a world away.
The culture is that of the first people to have occupied Greenland some 4,500 years ago. Known to archaeologists as the first Paleo-Eskimo culture, it gave way to a second Paleo-Eskimo culture some 2,500 years ago and then 700 years ago to the Thule culture of the present-day Inuit peoples. Some archaeologists suggested that each culture might have descended from its predecessor, but proof required obtaining DNA from the earlier cultures and comparing it with that of the Inuit (Click to read more).
CAIRO, Egypt - Egypt plans to conduct a DNA test on a 3,500-year-old mummy to determine if it is King Thutmose I, one of the most important pharaohs, the country's chief archaeologist said Thursday.
Zahi Hawass, Egypt's antiquities chief, said the DNA test and an X-ray will be carried out on a mummy found at the site of ancient Thebes on the west bank of the Nile, what is today Luxor's Valley of the Kings, the Middle East News Agency reported.
Hawass said a mummy on display in the Egyptian Museum that was purported for many years to be Thutmose I was not actually the ancient ruler's remains (Click to read more).
A California company is planning a string of online auctions next month to clone five dogs, with the bidding to start at $100,000.
Scientists consider dogs among the most difficult animals to clone because they have an unusual reproductive biology, more so than humans. But the company behind the auctions, BioArts International, maintains that the technology is ready, and it is calling the dog cloning project Best Friends Again. It has scheduled the auctions for June 18.
BioArts says it has licensed patents issued in the 1990s after researchers in Scotland cloned Dolly the sheep.
BioArts also arranged a partnership with the Sooam Biotech Research Foundation in South Korea. BioArts says one of the principal scientists there is Hwang Woo Suk, who in 2005 was involved in cloning a male Afghan hound. He and his Korean colleagues named that dog Snuppy, for Seoul National University puppy (Click to read more).
DNA from an extinct creature has been resurrected in a live animal for the first time.
The genetic material, extracted from the extinct Tasmanian tiger, proved functional in mice.
"As more and more species of animals become extinct, we are continuing to lose critical knowledge of gene function and their potential," said researcher Andrew Pask, a molecular biologist at the University of Melbourne in Australia.
Reviving genes from extinct animals can't bring them back to life, but it could help retrieve this potentially valuable knowledge.
"This research has enormous potential for many applications including the development of new biomedicines and gaining a better understanding of the biology of extinct animals," said researcher Richard Behringer at the University of Texas (Click to read more).
One of the wonders of the genome is how it enables us to time-travel, both backward and forward. Scribbled within it are clues to our ancestry, which can give us an emboldening sense of continuity, coherence, place — how marvelous to imagine ourselves the sons of Levi, the daughters of African queens! But scrawled within it, too, are clues about our future, which can be downright terrifying. Rather than expand our sense of possibilities, they foreshorten them. There are dread mutations slumbering in our cells. From our genes, we learn how we may die (Click to read more).
Duchenne muscular dystrophy may not seem to have much in common with heart attacks. One is a rare inherited disease that primarily strikes boys. The other is a common cause of death in both men and women. To Atul J. Butte, they are surprisingly similar.
Dr. Butte, an assistant professor of medicine at Stanford, is among a growing band of researchers trying to redefine how diseases are classified — by looking not at their symptoms or physiological measurements, but at their genetic underpinnings. It turns out that a similar set of genes is active in boys with Duchenne and adults who have heart attacks.
The research is already starting to change nosology, as the field of disease classification is known. Seemingly dissimilar diseases are being lumped together. What were thought to be single diseases are being split into separate ailments. Just as they once mapped the human genome, scientists are trying to map the “diseasome,” the collection of all diseases and the genes associated with them.
“We are now in a unique position in the history of medicine to define human disease precisely, uniquely and unequivocally,” three scientists wrote of the new approach last year in the journal Molecular Systems Biology. Such research aims to do more than just satisfy some basic intellectual urge to organize and categorize. It also promises to improve treatments and public health (Click to read more).
WASHINGTON - People learning through genetic testing that they might be susceptible to devastating diseases wouldn't also have to worry about losing their jobs or their health insurance under anti-discrimination legislation the Senate passed Thursday.
The 95-0 Senate vote sends the Genetic Information Nondiscrimination Act back to the House, which could approve it early next week. President Bush supports the legislation.
The bill, described by Sen. Edward Kennedy as "the first major new civil rights bill of the new century," would bar health insurance companies from using genetic information to set premiums or determine enrollment eligibility. Similarly, employers could not use genetic information in hiring, firing or promotion decisions (Click to read more).
At 104 and counting, Sadie Kaplan has achieved the lifespan so many of us say we want, without ever popping a pill or lifting a finger to pursue longevity.
The secret behind her long, healthy life remains a mystery to the New York matriarch, belle of the local Jewish senior center, who still lives in her own apartment and likes to sneak past well-meaning neighbors for a solo dinner at the nearby Popeyes chicken joint.
“I keep myself so occupied, I haven’t time to get old,” she tells her children.
Daughter Fran Marton says family members feel blessed, but a little surprised, to have had Kaplan around so long. “It started to dawn on me when she was in her 90s that she was unusual,” says Marton, the youngest of five siblings who range in age from 62 to 80. “She has survived just everybody, miraculously.”
But to researchers who have studied Kaplan and other centenarians, her longevity is less a miracle than the key to a scientific puzzle. When Kaplan agreed four years ago to enroll in the Longevity Genes Project run by the Albert Einstein College of Medicine of Yeshiva University, she joined the oldest of the old willing to supply some answers (Click to read more).
Twenty years after DNA fingerprints were first admitted by American courts as a way to link suspects to crime scenes, a new and very different class of genetic test is approaching the bench.
Rather than simply proving, for example, that the blood on a suspect's clothes does or does not match that of a murder victim, these "second generation" DNA tests seek to shed light on the biological traits and psychological states of the accused. In effect, they allow genes to "testify" in ways never before possible, in some cases resolving long-standing legal tangles but in others raising new ones.
Already, chemical companies facing "toxic tort" claims have persuaded courts to order DNA tests on the people suing them, part of an attempt to show that the plaintiffs' own genes made them sick -- not the companies' products (Click to read more).
The tendency to have a breech delivery is inherited, a new study reports, and it is apparently inherited equally through the father and the mother.
Norwegian researchers examined records of all 2.2 million births in Norway from 1967 through 2004 and found that men and women who had themselves been delivered in breech position — that is, buttocks first — had more than twice the risk of delivering their own first babies in the same way. The study is in the March issue of BMJ (Click to read more).
After two decades, Sean Reid of Surrey, British Columbia, discovered that he had a son. Fred Turley of Des Plaines, Ill., learned he didn’t have a daughter. And Wendy Lieb of Lewis Center, Ohio, made certain she wasn’t going to be a grandmother quite yet.
In all three situations, crucial genetic information altered the lives of the people involved. And in each case, it came not from a doctor or other medical source, but from a $29.99 kit on a drugstore shelf (Click to read more).
Four days a week, Todd Matthews earns $11.50 an hour working for an automotive parts supplier. After work he drives half a mile to his little beige house on a hill where he spends the next seven hours immersed in a very different world.
The faces seem to float from his computer — morgue photographs, artist sketches, forensic reconstructions — thousands of dead eyes staring from Web sites as though crying out for recognition. John and Jane and Baby "Does" whose bodies have never been identified.
His wife, Lori, complains that Matthews, 37, spends more time with the dead than he does with the living. You need a hobby, she says, or a goal.
I have a goal, he replies, though he describes it as a "calling".
He wants to give "Does" back their names (Click to read more).
For years, political scientists assumed our political leanings came from the way we were raised and the company we keep. You're a screaming liberal? Must be because you were raised in a household full of screaming liberals. You're an arch conservative? Must be because of that college you went to.
But slowly, some political scientists are beginning to change their minds on what shapes our political views. They're starting to wonder whether some of our political identity is rooted in our DNA (Click to read more).
Forget voting along party lines in the upcoming presidential election—Angelina Jolie and Brad Pitt could vote along bloodlines, if they were so inclined.
Researchers at the New England Historic Genealogical Society have discovered that Jolie is distantly related to Hillary Clinton, while Pitt is a cousin of Barack Obama (Click to read more).
Actress Brooke Shields has a pretty impressive pedigree -- hanging from her family tree are Catherine de Medici and Lucrezia Borgia, Charlemagne and El Cid, William the Conqueror and King Harold II, vanquished by William at the Battle of Hastings.
Shields also descends from five popes, a whole mess of early New England settlers, and the royal houses of virtually every European country. She counts Renaissance pundit Niccolo Machiavelli and conquistador Hernando Cortes as ancestors.
What is it about Brooke Shields? Well, nothing special -- at least genealogically.
Even without a documented connection to a notable forebear, experts say, the odds are virtually 100 percent that every person on Earth is descended from one royal personage or another (Click to read more).
It is a basic tenet of human biology, taught in grade schools everywhere: Identical twins come from the same fertilized egg and, thus, share identical genetic profiles.
But according to new research, though identical twins share very similar genes, identical they are not. The discovery opens a new understanding of why two people who hail from the same embryo can differ in phenotype, as biologists refer to a person’s physical manifestation (Click to read more).
On a cold day in January, Dan Stoicescu, a millionaire living in Switzerland, became the second person in the world to buy the full sequence of his own genetic code.
He is also among a relatively small group of individuals who could afford the $350,000 price tag (Click to read more).
Victoria Grove wanted to find out if she was destined to develop the form of emphysema that ran in her family, but she did not want to ask her doctor for the DNA test that would tell her (Click to read more).
Head lice taken from 1,000-year-old mummies in Peru support the idea that the little creatures accompanied humans on their first migration out of Africa, 100,000 years ago, researchers reported on Wednesday (Click to read more)
When scientists first decoded the human genome in 2000, they were quick to portray it as proof of humankind’s remarkable similarity. The DNA of any two people, they emphasized, is at least 99 percent identical.
But new research is exploring the remaining fraction to explain differences between people of different continental origins (Click to read more).
A team reports in the journal Science that it extracted DNA from the remains of two Neanderthals and retrieved part of an important gene called MC1R.
In modern people, a change - or mutation - in this gene causes red hair, but, until now, no one knew what hair colour our extinct relatives had (Click to read more)
Researchers analyzing variation in the human genome have concluded that human evolution accelerated enormously in the last 40,000 years under the force of natural selection (Click to read more)
James D. Watson, the co-discoverer of the structure of DNA and winner of the Nobel prize, raised a storm recently when a British newspaper quoted him saying that black Africans are not as intelligent as whites. But his own brilliant DNA seems to blur the lines (Click to read more)
We Americans are crazy about our pets. We spend $41 billion a year on them. The late Leona Helmsley left her dog, Trouble, $12 million. We've all seen dogs and cats wearing hand-made sweaters, despite their having natural fur coats. And my family entered this arena of the overly involved pet owner. We had our dog's DNA tested to determine his ancestry (Click to read more)
|
