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Category Archives: Transhuman News

Engineered flies spill secret of seizures

Posted: October 12, 2012 at 1:24 am

ScienceDaily (Oct. 11, 2012) Scientists have observed the neurological mechanism behind temperature-dependent -- febrile -- seizures by genetically engineering fruit flies to harbor a mutation analogous to one that causes epileptic seizures in people. In addition to contributing the insight on epilepsy, their new study also highlights the first use of genetic engineering to swap a human genetic disease mutation into a directly analogous gene in a fly.

In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California-Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen.

The researchers used a technique called homologous recombination -- a more precise and sophisticated technique than transgenic gene engineering -- to give flies a disease-causing mutation that is a direct analogue of the mutation that leads to febrile epileptic seizures in humans. They observed the temperature-dependent seizures in whole flies and also observed the process in their brains. What they discovered is that the mutation leads to a breakdown in the ability of certain cells that normally inhibit brain overactivity to properly regulate their electrochemical behavior.

In addition to providing insight into the neurology of febrile seizures, said Robert Reenan, professor of biology at Brown and a co-corresponding author of the paper in the Journal of Neuroscience, the study establishes

"This is the first time anyone has introduced a human disease-causing mutation overtly into the same gene that flies possess," Reenan said.

Engineering seizures

Homologous recombination (HR) starts with the transgenic technique of harnessing a transposable element (jumping gene) to insert a specially mutated gene just anywhere into the fly's DNA, but then goes beyond that to ultimately place the mutated gene into exactly the same position as the natural gene on the X chromosome. HR does this by outfitting the gene to be handled by the cell's own DNA repair mechanisms, essentially tricking the cell into putting the mutant copy into exactly the right place. Reenan's success with the technique allowed him to win a special grant from the National Institutes of Health last year.

The new paper is a result of that grant and Reenan's collaboration with neurobiologist Diane O'Dowd at UC-Irvine. Reenan and undergraduate Jeff Gilligan used HR to insert a mutated version of the para gene in fruit flies that is a direct parallel of the mutation in the human gene SCN1A that causes febrile seizures in people.

When the researchers placed flies in tubes and bathed the tubes in 104-degree F water, the mutant fruit flies had seizures after 20 seconds in which their legs would begin twitching followed by wing flapping, abdominal curling, and an inability to remain standing. After that, they remained motionless for as long as half an hour before recovering. Unaltered flies, meanwhile, exhibited no temperature-dependent seizures.

The researchers also found that seizure susceptibility was dose-dependent. Female flies with mutant strains of both copies of the para gene (females have two copies of the X chromosome) were the most susceptible to seizures. Those in whom only one copy of the gene was a mutant were less likely than those with two to seize, but more likely than the controls.

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Engineered flies spill secret of seizures

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Claim That Links Economic Success and Genetic Diversity Draws Criticism

Posted: at 1:24 am

Genoeconomists' use of population-genetic data to predict economic success is sparking a war of words, including charges of racism

By Ewen Callaway and Nature magazine

The United States has the right amount of genetic diversity to buoy its economy, claim economists. Image: D. ACKER/BLOOMBERG VIA GETTY

Showcasing more than fifty of the most provocative, original, and significant online essays from 2011, The Best Science Writing Online 2012 will change the way...

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From Nature magazine

The invalid assumption that correlation implies cause is probably among the two or three most serious and common errors of human reasoning. Evolutionary biologist Stephen Jay Gould was referring to purported links between genetics and an individuals intelligence when he made this familiar complaint in his 1981 book The Mismeasure of Man.

Fast-forward three decades, and leading geneticists and anthropologists are levelling a similar charge at economics researchers who claim that a countrys genetic diversity can predict the success of its economy. To critics, the economists paper seems to suggest that a countrys poverty could be the result of its citizens genetic make-up, and the paper is attracting charges of genetic determinism, and even racism. But the economists say that they have been misunderstood, and are merely using genetics as a proxy for other factors that can drive an economy, such as history and culture. The debate holds cautionary lessons for a nascent field that blends genetics with economics, sometimes called genoeconomics. The work could have real-world pay-offs, such as helping policy-makers to set the right level of immigration to boost the economy, says Enrico Spolaore, an economist at Tufts University near Boston, Massachusetts, who has also used global genetic-diversity data in his research.

But the economists at the forefront of this field clearly need to be prepared for harsh scrutiny of their techniques and conclusions. At the centre of the storm is a 107-page paper by Oded Galor of Brown University in Providence, Rhode Island, and Quamrul Ashraf of Williams College in Williamstown, Massachusetts. It has been peer-reviewed by economists and biologists, and will soon appear in American Economic Review, one of the most prestigious economics journals.

The paper argues that there are strong links between estimates of genetic diversity for 145 countries and per-capita incomes, even after accounting for myriad factors such as economic-based migration. High genetic diversity in a countrys population is linked with greater innovation, the paper says, because diverse populations have a greater range of cognitive abilities and styles. By contrast, low genetic diversity tends to produce societies with greater interpersonal trust, because there are fewer differences between populations. Countries with intermediate levels of diversity, such as the United States, balance these factors and have the most productive economies as a result, the economists conclude.

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Claim That Links Economic Success and Genetic Diversity Draws Criticism

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Nurture trumps nature in study of oral bacteria in human twins, says CU study

Posted: at 1:24 am

Public release date: 11-Oct-2012 [ | E-mail | Share ]

Contact: Kenneth Krauter krauter@colorado.edu 303-492-6693 University of Colorado at Boulder

A new long-term study of human twins by University of Colorado Boulder researchers indicates the makeup of the population of bacteria bathing in their saliva is driven more by environmental factors than heritability.

The study compares saliva samples from identical and fraternal twins to see how much "bacterial communities" in saliva vary from mouth to mouth at different points in time, said study leader and CU-Boulder Professor Kenneth Krauter. The twin studies show that the environment, rather than a person's genetic background, is more important in determining the types of microbes that live in the mouth.

For the new study, doctoral student Simone Stahringer sequenced the microbial DNA present in the saliva samples of twins. She and the research team then determined the microbes' identities through comparison with a microbe sequence database. Saliva samples were gathered from twins over the course of a decade beginning in adolescence to see how salivary microbes change with time.

After determining the oral "microbiomes" of identical twins, who share the same environment and genes, and the microbiomes of fraternal twins who share only half their genes, the researchers found the salivary microbes of the identical twins were not significantly more similar to each other than to those of fraternal twins. "We concluded the human genome does not significantly affect which bacteria are living in a person's mouth," said Krauter of CU-Boulder's molecular, cellular and developmental biology department. "It appears to be more of an environmental effect."

Krauter said while the twin data from the oral microbiome study indicates that genetics plays a more minor role, it's possible the genes still affect the oral microbiome in more subtle ways -- an effect he plans to further explore.

A paper on the subject was published online Oct. 12 in the journal Genome Research. Other co-authors included doctoral student William Walters of MCD Biology, Jose Clemente and Rob Knight of the chemistry and biochemistry department, Robin Corley and John Hewitt of the Institute for Behavioral Genetics and Dan Knights, a former doctoral student in the computer science department.

The researchers also found that the salivary microbiome changed the most during early adolescence, between the ages of 12 and 17. This discovery suggests that hormones or lifestyle changes at this age might be important, according to the team.

Stahringer said that when several pairs of identical twins moved out of their homes and, for example, went off to college, the oral microbes they carried changed, which is consistent with the idea that the environment contributes to the types of microbes in the saliva. "We were intrigued to see that the microbiota of twin pairs became less similar once they moved apart from each other," Stahringer said.

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Nurture trumps nature in study of oral bacteria in human twins, says CU study

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Nurture trumps nature in study of oral bacteria in human twins, study finds

Posted: at 1:24 am

ScienceDaily (Oct. 11, 2012) A new long-term study of human twins by University of Colorado Boulder researchers indicates the makeup of the population of bacteria bathing in their saliva is driven more by environmental factors than heritability.

The study compares saliva samples from identical and fraternal twins to see how much "bacterial communities" in saliva vary from mouth to mouth at different points in time, said study leader and CU-Boulder Professor Kenneth Krauter. The twin studies show that the environment, rather than a person's genetic background, is more important in determining the types of microbes that live in the mouth.

For the new study, doctoral student Simone Stahringer sequenced the microbial DNA present in the saliva samples of twins. She and the research team then determined the microbes' identities through comparison with a microbe sequence database. Saliva samples were gathered from twins over the course of a decade beginning in adolescence to see how salivary microbes change with time.

After determining the oral "microbiomes" of identical twins, who share the same environment and genes, and the microbiomes of fraternal twins who share only half their genes, the researchers found the salivary microbes of the identical twins were not significantly more similar to each other than to those of fraternal twins. "We concluded the human genome does not significantly affect which bacteria are living in a person's mouth," said Krauter of CU-Boulder's molecular, cellular and developmental biology department. "It appears to be more of an environmental effect."

Krauter said while the twin data from the oral microbiome study indicates that genetics plays a more minor role, it's possible the genes still affect the oral microbiome in more subtle ways -- an effect he plans to further explore.

A paper on the subject was published online Oct. 12 in the journal Genome Research. Other co-authors included doctoral student William Walters of MCD Biology, Jose Clemente and Rob Knight of the chemistry and biochemistry department, Robin Corley and John Hewitt of the Institute for Behavioral Genetics and Dan Knights, a former doctoral student in the computer science department.

The researchers also found that the salivary microbiome changed the most during early adolescence, between the ages of 12 and 17. This discovery suggests that hormones or lifestyle changes at this age might be important, according to the team.

Stahringer said that when several pairs of identical twins moved out of their homes and, for example, went off to college, the oral microbes they carried changed, which is consistent with the idea that the environment contributes to the types of microbes in the saliva. "We were intrigued to see that the microbiota of twin pairs became less similar once they moved apart from each other," Stahringer said.

Krauter said there appears to be a core community of oral bacteria that is present in nearly all humans studied. "Though there are definitely differences among different people, there is a relatively high degree of sharing similar microbial species in all human mouths," he said.

The authors say the new study has established a framework for future studies of the factors that influence oral microbial communities. "With broad knowledge of the organisms we expect to find in mouths, we can now better understand how oral hygiene and environmental exposure to substances like alcohol, methamphetamines and even foods we eat affect the balance of microbes," said Krauter.

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DNA Discrepancy: Bad News For Jurassic Genetics

Posted: at 1:24 am

Michael Harper for redOrbit.com Your Universe Online

Despite its status as a best selling novel and blockbuster hit, it turns out Jurassic Park was based on a fundamentally flawed premisebad news for dinoDNA researchers.

After drilling through some old bird bones, palaeogeneticists in Copenhagen and Australia have discovered DNA can hardly survive 1,000 years, let alone make it through the millions of years that separate us from our reptilian overlords.

Led by Morten Allentoft at the University of Copenhagen and Michael Bunce at Murdoch University in Perth, Australia, a group of palaeogeneticists studied many bones from a Moa bird fossil to understand just how feasible it is to clone a Raptor these days.

Weve been permanently plagued by this Jurassic Park myth thats been kicking around since the early nineties, Bunce told the Sydney Morning Herald, reports the Telegraph. The myth is still out there. Even other scientists ask whether it is possible.

Each of the 158 Moa bones were gathered relatively close to one another in New Zealand, (about 3 miles or so apart) were preserved in near identical environments, and are estimated by the team to be anywhere between 600 and 8,000 years old.

After drilling into the core of these bones and examining them, the researchers estimated that DNA actually has a half-life of about 521 years. This means that after an estimated span of 521 years, half of the nucleotides in the samples backbone break. In another 521 years, half of the remaining nucleotides also break, and so on.

Even though half of the nucleotides are destroyed after just 521 years, the research team suggests that, under the best conditions, every strand in that DNA would be destroyed after, at most, 6.8 million years. Further crushing Crichton fans, these researchers also suggest that while this DNA could technically exist for upwards of 6 million years, it becomes mostly useless after only 1.5 million years. After the first millennia (1,000 years), the strands of DNA become far too short to read.

There are many variables to be considered, of course. As soon as a creature, say, a terrifying pterodactyl, passes on, everything in its body begins to die and decay. As cells die, enzymes begin to eat away at the nucleotide backbone of DNA as other micro-organisms speed the process along. Once only bone is left, groundwater becomes the worst enemy of any existing DNA, and though it can be a stubborn contender, DNA, just like the walls of the Grand Canyon, will eventually lose its fight with water. The speed at which groundwater destroys this DNA depends on variables such as temperatures, microbial attacks and oxygen, according to the team of palaeogeneticists.

Therefore, even under the best conditions, Dino DNA simply hasnt been able to stand the test of time.

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DNA Discrepancy: Bad News For Jurassic Genetics

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US panel urges end to secret DNA testing over privacy concerns

Posted: at 1:24 am

They're called discreet DNA samples, and the Elk Grove, California, genetic-testing company easyDNA says it can handle many kinds, from toothpicks to tampons.

Blood stains from bandages and tampons? Ship them in a paper envelope for paternity, ancestry or health testing. EasyDNA also welcomes cigarette butts (two to four), dental floss ("do not touch the floss with your fingers"), razor clippings, gum, toothpicks, licked stamps and used tissues if the more standard cheek swab or tube of saliva isn't obtainable.

If the availability of such services seems like an invitation to mischief or worse - imagine a discarded tissue from a prospective employee being tested to determine whether she's at risk for an expensive disease, for instance - the Presidential Commission for the Study of Bioethical Issues agrees.

On Thursday it released a report on privacy concerns triggered by the advent of whole genome sequencing, determining someone's complete DNA make-up. Although sequencing "holds enormous promise for human health and medicine," commission chairwoman Amy Gutmann told reporters on Wednesday, there is a "potential for misuse of this very personal data."

"In many states someone can pick up your discarded coffee cup and send it for (DNA) testing," said Gutmann, who is the president of the University of Pennsylvania.

"It's not a fantasy to think about how, without baseline privacy protection, people could use this in a way that would be really detrimental," such as by denying someone with a gene that raises their risk of Alzheimer's disease long-term care insurance, or to jack up life insurance premiums for someone with an elevated genetic risk of a deadly cancer that strikes people in middle age.

"Those who are willing to share some of the most intimate information about themselves for the sake of medical progress should be assured appropriate confidentiality, for example, about any discovered genetic variations that link to increased likelihood of certain diseases, such as Alzheimer's, diabetes, heart disease and schizophrenia," Gutmann said.

The commission took on the issue because whole genome sequencing is poised to become part of mainstream medical care, especially by personalizing medical treatments based on a patient's DNA.

$1,000 genome

That has been driven in large part by dramatic cost reductions, from $2.5 billion per genome in the Human Genome Project of the 1990s and early 2000s to $1,000 soon. Several companies, including Illumina Inc. and Life Technology's Ion Torrent division, sell machines that can sequence a genome for a few hundred dollars, but that does not include the analysis to figure out what the string of 3 billion DNA "letters" means.

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US panel calls for stronger privacy for genome data

Posted: at 1:23 am

Laws to keep genetic information private are not strong enough -- a situation that could hinder progress in important research, according to a new high-level study Thursday on medical ethics.

As human genome sequencing becomes more and more affordable, researchers are finding new and important ways to use the data for research and at the clinical level.

This has the potential to lead to even more major advances in medicine and science, the Presidential Commission for the Study of Bioethical Issues said in its report.

But these advances depend on having available vast amounts of genetic information, coming from tens of thousands, or even millions of people, most of whom would not benefit directly from the research, emphasized commission chair Amy Gutmann.

And therein lies the potential for ethical dilemmas, the authors wrote, making a dozen recommendations on reinforcing regulations to protect the confidentiality of an individual's genetic information.

"Those who are willing to share some of the most intimate information about themselves for the sake of medical progress should be assured appropriate confidentiality," Gutmann said.

"The commission's goal was to find the most feasible ways of reconciling the enormous medical potential of whole genome sequencing with the pressing privacy and data access issues raised by the rapid emergence of low-cost whole genome sequencing," she added.

For instance, a person's genome may reveal a predisposition for diseases like Alzheimer's, diabetes, schizophrenia or heart problems. That information could be used in a negative way by employers or health insurance companies.

Without assurances that would not happen, many people may feel wary of volunteering for genome sequencing, the authors wrote.

And while genomic data are kept confidential in some situations, in others the rules are less clear.

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Inconsistent Genome Privacy Laws Need Toughening, Panel Says

Posted: at 1:23 am

Many U.S. states lack laws to protect people from harmful use of their whole DNA transcripts, or genomes, and should work with the federal government to provide consistent protection, presidential advisers said.

About half of states dont have legislation that would prevent someone from secretly analyzing another persons genome with the saliva from a used coffee cup, said Amy Gutmann, who led the Presidential Commission for the Study of Bioethical Issues panel that released a report today.

Variations in the human genome can spell the difference between health and disease for individuals, and the cost of a complete analysis has dropped from more than $1 million to about $4,500 in less than eight years. As genome sequencing becomes cheaper and more routine, the stakes are rising to keep vital information about a persons health private, Gutman said.

To make full use of whole genome sequencing, which holds out enormous promise for human health and medicine, were going to have to figure out how to protect peoples privacy and avoid the harm that come from misuse of this data, said Gutmann, who is also president of the Philadelphia-based University of Pennsylvania, in a telephone conference with reporters.

Existing federal laws, such as the Health Insurance Portability and Accountability Act, the Genetic Information Nondiscrimination Act, and the Common Rule that protects research subjects, offer some protections against unauthorized use of medical data, the panel said. Rewriting those rules might ensure that patients have some needed protections, said Anita Allen, a University of Pennsylvania law professor and a member of the commission.

Such a reform might be a very useful thing to do, and is likely to be taken up by Congress, Allen said.

As cost of sequencing falls, doctors may begin using whole genomes to assess patients risk of cancer, diabetes, heart disease, or other conditions, the report said. Scientists are clamoring for more genomes to add to data sets that can help clarify the impact of variations in the genome, it said.

Illumina Inc. (ILMN), based in San Diego, and Life Technologies Corp. (LIFE), based in Carlsbad, California, are the two biggest makers of DNA sequencers.

Many hospitals and medical centers are asking patients whether some of their genetic data, if not their whole genomes, can be used for such research, the report said.

Those who are willing to share some of the most intimate information about themselves for the sake of medical progress should be assured appropriate confidentiality, Gutmann said in a statement released by the commission.

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Inconsistent Genome Privacy Laws Need Toughening, Panel Says

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Was she really 132? World's 'oldest ever person' dies in remote Georgian village

Posted: at 1:23 am

A GEORGIAN woman who claimed to be 132 years old - making her the worlds oldest human being ever - has died.

Antisa Khvichava claimed to have been born on 8 July 1880, and had a Soviet-era passport and documentation to that effect, but her age was contested and never officially proven.

She lived in the remote village of Sachino, in north-west Georgia, with her 42-year-old grandson and claimed to have retired from her job as a tea and corn picker in 1965 when she was 85.

Mrs Khvichava claimed to be just 10 years younger than Russias first communist leader Vladimir Lenin, and to have been born a year before the death of the celebrated Russian writer Fyodor Dostoyevsky.

She said she had 12 grandchildren, 18 great-grandchildren and four great-great-grandchildren, and reportedly attributed her longevity and good health to drinking a small amount of local brandy every day.

Mrs Khvichava, who only spoke in the local language Mingrelian, would already have been 31 when the Titanic sunk in April 1912 and 37 during Russias October Revolution in 1917. She would have been 61 when the Soviet Union entered the Second World War in 1941 and 111 when the Soviet Union formally came to an end in 1991.

Her original birth certificate is said to have been lost during the years of revolutions and civil wars that ravaged Georgia following the fall of the USSR. But local officials, friends, neighbours and descendants have all back up the claim that she was 132 when she died.

Experts have some doubt over the claims however, as all the documents stating her age were created long after Mrs Khvichava's birth. Without documents dating from the 1880s, researchers said her real age is likely to remain a mystery.

The oldest living person at the moment is 116-year-old Besse Cooper from the state of Georgia in the USA. Her birth can be officially proven to have been in August 1896.

The oldest ever verified person was French woman Jeanne Calment, born in February 1875, who lived to 122 years and 164 days before dying in August 1997. She claimed to have met the artist Vincent Van Gogh when she was a young woman.

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Research and Markets: Atopic Dermatitis (Eczema) – Pipeline Review, H2 2012

Posted: at 1:23 am

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/329shk/atopic_dermatitis) has announced the addition of Global Markets Direct's new report "Atopic Dermatitis (Eczema) - Pipeline Review, H2 2012" to their offering.

Global Markets Direct's, 'Atopic Dermatitis (Eczema) - Pipeline Review, H2 2012', provides an overview of the Atopic Dermatitis (Eczema) therapeutic pipeline. This report provides information on the therapeutic development for Atopic Dermatitis (Eczema), complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Atopic Dermatitis (Eczema).

'Atopic Dermatitis (Eczema) - Pipeline Review, H2 2012' is built using data and information sourced from Global Markets Direct's proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Direct's team.

Scope:

- A snapshot of the global therapeutic scenario for Atopic Dermatitis (Eczema).

- A review of the Atopic Dermatitis (Eczema) products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.

- Coverage of products based on various stages of development ranging from discovery till registration stages.

- A feature on pipeline projects on the basis of monotherapy and combined therapeutics.

- Coverage of the Atopic Dermatitis (Eczema) pipeline on the basis of route of administration and molecule type.

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