DeCode Genetics, a genome sequencing and drug development company, found out the hard way that predicting disease risk simply by reading someone’s genes isn’t so straightforward. On Tuesday, deCode filed for chapter 11 bankruptcy protection in Delaware. The company’s financial problems have also raised some troubling questions about genetic privacy.
DeCode’s mission was to uncover genetic risk factors for common diseases and to develop personal genome scans so individuals could learn their risk. DeCode quickly became the leader in the worldwide race to identify the causes of common disease. The company’s researchers discovered mutations linked to schizophrenia, heart disease, diabetes, prostate cancer and many other illnesses. Its approach was to identify the mutations first in Icelanders and then to confirm them in other populations [The New York Times]. Iceland was seen as an ideal spot for genetic studies, because the population was fairly isolated and the country has excellent medical and genealogical records. However, the company’s early successes did not translate into dollars, in part because the mutations they found only account for a small percentage of the overall incidence of a given disease.
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Don’t let anyone treat you badly because of your genes. As of this weekend, it will be against the law.
The Genetic Information Nondiscrimination Act (GINA) prevents both employers and insurance companies from requiring genetic tests or from using your family’s medical history against you. The biggest change resulting from the law is that it will–except in a few circumstances—prohibit employers and health insurers from asking employees to give their family medical histories. The law also bans group health plans from the common practice of rewarding workers, often with lower premiums or one-time payments, if they give their family medical histories when completing health risk questionnaires [The New York Times]. The law also bars employers from requiring genetic testing or using such information to make decisions on hiring, firing or promoting employees.
To alleviate the privacy concerns of people that have had genetic testing, Congress stepped in and passed GINA last year. The act takes effect Nov. 21 for all employers with 15 or more employees. It applies to group health insurers whose plan years begin on or after Dec. 7, and it took effect for individual health insurance plans last May. The act does not apply to life insurers. The act would ban a company from not promoting a 49-year-old to chief executive because it knew his father and grandfather died of heart attacks at age 50 [The New York Times]. It is still legal for employers to glean information about an employee’s medical history from family obituaries, or to inquire why an employee missed work to care for a sick relative under the Family Medical Leave Act. However, it will now be illegal to use this information to somehow penalize the employee.
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Image: flickr / IRRI Images
A gene therapy treatment intended to reverse muscle weakness appears to restore muscle mass in monkeys, raising hopes that doctors may soon be able to treat this condition in humans with degenerative diseases like multiple sclerosis and muscular dystrophy. Scientists injected a gene into the monkeys’ thighs that causes cells to produce human follistatin, which interferes with another compound called myostatin. Myostatin breaks down muscle, so in theory adding follistatin should encourage muscles to grow [Reuters].
And grow they did. Within three months the monkeys’ thigh muscle mass increased, and the effect lasted for 15 months, according to the research published in the journal Science Translational Medicine. (Not quite the same effect as the whippet turned hugely muscular by a natural genetic defect.) The relatively long-lasting effect is promising for researchers looking to treat lifelong conditions such as multiple sclerosis and muscular dystrophy. The researchers say the treatment was safe and that no other organs were affected.
But there could be a downside to this promising work–some experts are asking whether this therapeutic technique could be used by unscrupulous athletes looking to tweak their genetics and to build stronger muscles. The drugs companies Amgen and Wyeth have already begun testing myostatin inhibitors in humans and such studies have already prompted fears about the potential for myostatin inhibitors to be abused by athletes hoping to gain the competitive edge. If gene therapy can achieve similar outcomes in humans, such modifications will be even harder to detect [New Scientist]. The World Anti-Doping Authority has banned gene doping in athletic competitions for obvious reasons, even though there’s no evidence that any athletes are tinkering with their genes.
Of course there wouldn’t be: If some jock were gene doping, there would be no way to detect it.
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Image: Wikimedia Commons / Muhammad Mahdi Karim
“Nanoparticles can cause DNA damage across a cellular barrier.” That’s the title of a paper published in Nature Nanotechnology that inspired a number of ominous news headlines (two examples: Nanoparticles ‘can damage DNA‘ and Nanoparticles can damage DNA at a distance: study). The stories that followed basically sang the same tune—that nanoparticles can damage our cells’ genetic material even from a distance (a relatively short distance of four cells away). However, experts are speaking up in response to the media hype, and argue that this study should have never been covered in the news. This particular study has little relevance to human exposure risks, experts say, and it is deeply flawed in other ways [ScienceNOW Daily News]. At least one expert called the study “meaningless,” however other scientists were more diplomatic and have pointed to a number of interesting questions the study raises that are worth pursuing.
In the study, researchers exposed a thin “barrier” of four layers of cancer cells to cobalt-chromium ions or particles. Cells close to the nanoparticles experienced signs of mitochondrial damage. But even cells on the other side of the barrier suffered some DNA damage, the team found, despite the fact that there was no evidence that the metals themselves moved through the cells to the other side of the barrier [ScienceNOW Daily News]. Interesting indeed, but experts are pointing out that this set-up is not entirely relevant to humans, or any living organism for that matter.
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In an Italian court, a murderer has just had his sentence reduced because the judge agreed that the man’s genes predisposed him to violent behavior.
Abdelmalek Bayout, an Algerian immigrant to Italy, admitted to stabbing and killing Walter Felipe Novoa Perez, a Colombian, when the two men got in a fight over the kohl eye make-up that Bayout was wearing. At trial, the defense team argued that Bayout was mentally ill at the time of the murder; the judge agreed that his psychiatric condition was a mitigating factor, and gave him a reduced sentence of 9 years. But at an appeal hearing, Bayout’s lawyers argued that his sentence should be shortened further based not just on psychiatric evaluations, but also brain scans and genetic testing.
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Emphysema and cystic fibrosis patients who need new lungs are faced with a life-threatening problem: more than 80 percent of donated lungs can’t be used—they’re inflamed and barely functional [Scientific American]. Transplanted lungs also fail at a much higher rate than other transplanted organs, as they’re more likely to be rejected by the recipient’s body. But a new procedure that makes use of gene therapy may soon double or triple the supply of undamaged donated lungs, and may also improve their function once transplanted.
In both pre- and post-transplant lungs, the problem is inflammation caused by insufficient amounts of an immune molecule called IL-10. Donated lungs are immediately chilled on ice, which destroys any IL-10 that may remain in the lungs, allowing substantial damage to occur before the organ can be implanted. And a lack of the molecule after transplantation increases the likelihood that inflammation will damage the organ and induce rejection [Los Angeles Times].
To get around these problems, the researchers first built a domed chamber where pig lungs were kept at body temperature with a steady flow of oxygen and nutrients moving through them. That arrangement alone prevented substantial damage to the lungs. Next, in the gene therapy stage, the researchers used a harmless virus to bring a gene that produces IL-10 into the lung cells.
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For many rape cases, the only leads investigators have to follow are the clues spelled out by a DNA sample. If after years the DNA isn’t matched to a suspect the case goes cold and the victim never has closure. A few years ago, when there was still a statute of limitations for rape in New York City, prosecutors devised a clever way to side-step the ticking clock—they decided to simply indict the DNA profile. Since then, New York City prosecutors have secured 117 indictments of DNA samples in rape cases, linked 18 of those profiles to specific people, and obtained 13 convictions, either through trials or negotiated pleas. Five cases are pending [The New York Times].
Called John Doe DNA indictments, the strategy is also used in a handful of other states to help solve sex crimes, and its success has prompted officials to expand DNA indictments to other types of crimes. In New York, authorities are now collecting more DNA evidence from the scenes of everyday crimes. They hope to use DNA to help solve unsolved crimes from the past that are subject to a statute of limitations, like burglary, robbery or serial car theft [The New York Times]. Opponents of John Doe DNA indictments say the passage of time, along with fading memories and disappearing witnesses, hinders the defendant’s ability to mount a defense, and that old DNA samples are subject to depredation and mishandling. However New York officials counter by saying it’s irresponsible to ignore genetic evidence, especially with modern molecular biology tools.
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Look into the future and see the women of tomorrow! A new study predicts that future women will be a tad shorter, heavier, and more fertile—that is, if the women who are currently most successful at producing children are any indication. The team studied 2238 women who had passed menopause and so completed their reproductive lives…[and] tested whether a woman’s height, weight, blood pressure, cholesterol or other traits correlated with the number of children she had borne. They controlled for changes due to social and cultural factors to calculate how strongly natural selection is shaping these traits [New Scientist].
Their results show that shorter, heavier women tend to have more children, as do women with lower blood pressure and cholesterol. If the mothers pass on these traits for 10 generations, the average woman in 2409 will be 2 centimetres shorter and 1 kilogram [about 2 pounds] heavier than she is today. She will bear her first child about 5 months earlier and enter menopause 10 months later [New Scientist]. A two-centimeter decrease over 400 years may be a modest change, but the researchers say it’s evolution in action. The study will be published in Proceedings of the National Academy of Sciences.
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In very rare cases, the womb is a dangerous place for a developing fetus. Researchers have found that pregnant women can pass on cancer cells to their unborn babies, if those cancer cells carry a particular genetic mutation. The new study resolves a longstanding puzzle, because in theory any cancer cells that manage to cross the placenta into the baby’s bloodstream should be targeted for destruction by the child’s immune system. But there are records of 17 cases of a mother and baby appearing to share the same cancer – usually leukaemia or melanoma [BBC News].
In the study, which will be published in Proceedings of the National Academy of Sciences, researchers used a genetic “fingerprinting” technique to match the cancer cells found in a mother and baby. The case, involving a Japanese mother aged 28 and her daughter, revealed that both patients’ leukaemic cells carried the identical mutated cancer gene BCR-ABL1 even though the infant had not inherited this gene [The Times]. This meant that the child, who was diagnosed with cancer at the age of 11 months, could not have developed leukemia independently.
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A new genetic analysis has confirmed that the “royal disease” suffered by the male descendants of Queen Victoria was in fact a rare type of hemophilia, the genetic disease marked by a deficiency in blood clotting. Queen Victoria had several sons that died from blood loss after seemingly minor injuries. The disease spread as her descendants married into other royal families across Europe, altering Western history.
Based on the sons’ reported symptoms, modern researchers had already hypothesized that the royals had hemophilia, but there was never any concrete evidence. Now, new DNA analysis on the bones of the last Russian royal family, the Romanovs, indicates the Royal disease was indeed hemophilia, a rare subtype known as hemophilia B [ScienceNOW Daily News]. The genotyping study was published in the journal Science.
To pinpoint the exact form of the disorder, the scientists extracted DNA from the skeletal remains of Queen Victoria’s great grandson Crown Prince Alexei of Russia’s Romanov family and decoded the genetic information. (The bones were found in 2007, and it was only earlier this year that they were confirmed to have belonged to the murdered prince, who was killed during the Russian revolution.) The new analysis discovered a mutation in a gene on the X chromosome that codes for the production of Factor IX, a substance that causes blood to clot [BBC News]. Since the mutation is on the X chromosome, the disease is carried by females but usually shows up only in male descendants, because they don’t have a second X chromosome with a working copy of the gene. Researchers say the finding of hemophilia B in the Romanov’s closes the case on the cause of “royal disease.”
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Image: State Archives of the Russian Federation
When the Human Genome Project finished sequencing the first human genome earlier this decade, the price tag for the endeavor had reached almost $3 billion. Now, IBM has announced details of its effort to bring the cost of sequencing a person’s genome down to below $1,000–and the company says it could go as low as $100. While IBM is hardly the only company racing towards these goals, the company’s chip-based approach makes it a serious contender.
The company’s technique involves drilling tiny nanometer-size holes through computer-like silicon chips, then passing DNA strands through them to read the information contained in their genetic code. “We are merging computational biology and nanotechnology skills to produce something that will be very useful to the future of medicine” [Wired.com], says IBM scientist Gustavo Stolovitzky.
Stolovitzky says the work could usher in a new era of personalized medicine, in which patients routinely have their genomes scanned to help doctors make medical decisions. “Ultimately, it could improve the quality of medical care by identifying patients who will gain the greatest benefit from a particular medicine and those who are most at risk of adverse reaction,” said Stolovitzky [InformationWeek].
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Scientists in the United Kingdom are outraged over a new program that seeks to determine asylum seekers’ nationalities through DNA and the isotopes present in their hair and fingernails. “Horrifying,” “naïve,” and “flawed” are among the adjectives geneticists and isotope specialists have used to describe the “Human Provenance pilot project,” launched quietly in mid-September by the U.K. Border Agency [Science Insider]. The experts say the tests simply aren’t accurate enough to pinpoint a person’s country of origin.
The program will be tried out on asylum seekers from the Horn of Africa, and will seek to establish whether applicants from Kenya or Ethiopia are masquerading as refugees from war-torn Somalia. Yet scientists say the Border Agency’s goals confuse ancestry or ethnicity with nationality. David Balding, a population geneticist at Imperial College London, notes that “genes don’t respect national borders, as many legitimate citizens are migrants or direct descendants of migrants, and many national borders split ethnic groups” [Science Insider].
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Meat may be tasty, but many people object to way that chickens, cows, and other animals are treated at so-called “factory farms,” which produce massive amounts of edible flesh. So could animals that have been genetically engineered to not feel pain (or at least not be bothered by the sensation) offer a solution to an ethical dilemma posed by these meat factories?
That’s what one philosopher asked in a paper published in the journal Neuroethics, concluding that we have an ethical duty to consider the option. “If we can’t do away with factory farming, we should at least take steps to minimise the amount of suffering that is caused” [New Scientist] by practices such as de-beaking chickens without anesthesia, says author Adam Shriver. But because pain serves as an important warning sign, these so-called “pain-free” animals would still be able to sense pain–they just wouldn’t be bothered by it. Researchers seek ways to eliminate the suffering caused by pain without tampering with the physical sensation [New Scientist].
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The pale-coated deer mouse that makes its home in Nebraska’s Sand Hills prairie has become a poster-mouse for evolution, based on results of a study published in Science.
The rodent typically has dark fur (bottom photo), but one Nebraska group of mice evolved to have lighter fur (top photo) after the Sand Hills formed 8,000 to 15,000 years ago. A lighter coat is advantageous because it allows the animal to blend in with its pale surroundings. But what’s more amazing is that before the formation of the Sand Hills, the deer mouse didn’t even possess the gene that controls coat color in the rodents.
The gene, which is known as Agouti, first appeared in deer mice in the Sand Hills about 4,000 years ago; after that, a mutation occurred that gave rise to the mouse’s sandy fur. “The light gene wasn’t in existence, so the mice had to “wait” until a particular mutation occurred and then selection had to act on that new mutation… It’s a two part process. First the mutation has to occur and second, selection has to increase its frequency” [BBC News], said co-author Hopi Hoekstra.
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The remarkable diversity among dogs‘ coats–from the shaggy fur of a sheepdog to the sleek coat of a beagle, and everything in between–comes down to a mere three genes, according to a new report published in Science. The broad genetic study determined that one gene controls hair length and softness, another determines whether the hair is straight or curly, and a third controls the pattern in which hair grows, so that dogs with a particular version have wiry hair and moustaches and long facial details known to breeders as “furnishings”…. The combinations in which these genes are inherited then determine a dog’s overall look [The Times].
To reach these conclusions, the researchers first looked at the genetic differences within single breeds that have more than one coat type. Purebred dogs are particularly suited for this kind of study, Dr. Ostrander said, because they have been selectively bred to segregate traits — there are long- and short-haired dachshunds, for example [The New York Times]. By analyzing the genomes of two dachshunds with different types of coats, the researchers were able to determine which gene was linked to the variation in hair length. Similar studies revealed the other two genes.
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