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Category Archives: Transhuman News

US Scientists Just Edited a Human Embryo for the First Time. (Yes, People Are Freaking Out.) – Mother Jones

Posted: July 28, 2017 at 6:47 pm

Heres what you need to know.

Kate HarloeJul. 28, 2017 1:35 PM

Ben Birchall/Associated Press

For the first known time in the United States, scientists used a gene-editing technique called CRISPR to modify early-stage human embryos, according to a report published Wednesday in MIT Technology Review.

Since the development several years ago ofCRISPR, a tool that allows scientists to change sequences of DNA within a cell, scientists have speculated about its potential to free families of genetic disease or stop the spread of other diseases like malaria, among other possibilities. But the technology also raises major ethical questions.

Heres a quick rundown of the latest breakthroughand how it could change the way we think about humanreproduction and, well, humans themselves.

How did the experiment work?

According to MIT Technology Reviews report, a team of researchers at Oregon Health & Science University, led by geneticist Shoukhrat Mitalipov, used CRISPR to correct disease-causing genes in human embryos. Its not yet clear whether these were viable embryosembryos that could, theoretically, grow into humans.

A wide range of diseaseslike Huntingtons, sickle-cell anemia, and Tay-Sachs, for exampleare caused by mutations in genes. Its also not clear what genes Mitalipov and his team edited in their experiment. But regardless, it appears that their study was successful in a couple ways: First, they reportedly edited a greater number of embryos than scientists had in previous studies. Second, Mitalipov and his team claim they did so without causing as manyerrors as previous scientists.

CRISPR has been used to edit human embryos a few times before; Chinese scientists did it in March. But in prior experiments, scientists ran into problems when CRISPR edits were taken up only by some of the cells in an embryo. This is called mosaicism:it means that the child that develops from the embryo could still inherit the disease that scientists tried to edit away.

According to MITs report, Mitalipov reduced the occurrence of mosaicism and seemed to largely avoid off-target edits (another kind of CRISPR error, wherein scientists accidentally alter a gene other than the one they aim to change).

Why is this important?

A couple reasons. First, its the only known attempt to use CRISPR to edit human embryos in the United States. More on the legality of that below.

Second, if this attempt really was successful, its big news for people whose families carry genetic disease. In theory, using this technique, scientists could edit not just our offspring, but our offsprings offspring. This is called human germline editing. When scientists edit the DNA in an embryo, the changes will theoretically be inherited by each successive generation, permanently fixing the germlinethe genetic inheritanceof a family.

This seems ethically complex.

Right. The ethics and laws surrounding human germline editingare murky. Scientists in favor of human germlinemodification often argue that the techniquewill help us reduce the occurrence of genetic diseases.

But criticsdisagree.This is just not needed for preventing inheritable disease, said Marcy Darnovsky, Executive Director of the Center for Genetics and Society. There are [other techniques that] can already be used safely to prevent the births of children with serious genetic diseases in almost every case. One example of such a technique is preimplantation diagnosis, commonly referred to as PGD, which allows parents to screen embryos for certain disease-causing genes before implanting them through in vitro fertilization (IVF). But its not always effectiveif someone carries two copies of a defective gene, for example, all their embryos would carry that gene, as well.

Darnovsky also worries about safety. Despite whatever the claims are about safety, [like] no mosaicism, we still dont know if that would mean its safe to create a new human being and anyone who tried it would be taking an enormous and unacceptable risk with that future persons life.

Another concern: Right now, scientists aresupposed to stick to editing disease-causing genes. But the technology opens up the possibility of editing genes for enhancementallowing parents to edit for certain kinds of physical and behavioral characteristics in their children. Darnovsky worries that this would usher in an era of genetic discrimination. That would be layering new forms of inequality and discrimination onto the ones we already live with, she said.

Is this legal?

Probably.In 2015, Congress passed a law forbidding the Food and Drug Administration from reviewing applications for germline editing of human embryos, meaning no clinical trials can move forward with FDA funding. We dont yet knowhow Mitalipov funded his project, but assuming it was funded privately, its perfectly legal.

That wouldnt be the case in many other countries. The Center for Genetics and Society reports that over 40 countries, including most with established biotech sectors, have established legal prohibitions on germline modification for human reproduction. An international treaty also prohibits it. The United States has no such policy.

Whats next?

Well know more once the study is released, but its worth noting that in February of this year, the National Academy of Sciences and the National Academy published a report that said human germline editing could be permitted in the future. It outlined criteria for germline editing, recommending that it only be used for disease prevention. The authors of the report wrote that editing for the enhancement of human traits and capacities should not be allowed at this time. But the report didnt eliminate the possibility of editing for enhancement in the future.

Reactions to the report were mixed. Some experts, like Darnovsky, feel that human germline modification should not be done for any purpose. But in an interview with Science, Eric Lander, president and founding director of MIT and Harvards Broad Institute, a genomics research center, said he thought the report struck the right balance of optimism and caution. They want to put friction tape on the slope so the slope isnt slippery, Lander said. Whether and for how long the tape will hold is an open question.

Mother Jones is a nonprofit, and stories like this are made possible by readers like you. Donate or subscribe to help fund independent journalism.

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US Scientists Just Edited a Human Embryo for the First Time. (Yes, People Are Freaking Out.) - Mother Jones

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New method rates strength of ties between genes, conditions – Spectrum

Posted: at 6:47 pm

Download PDF Missing link: Not all mutations that crop up in people with a condition actually contribute to it.

palau83 / iStock

A new method can help researchers and clinicians gauge the likelihood that a gene is associated with a particular condition. The strategy could help researchers focus their efforts on genes with a solid connection to a condition1.

Advances in sequencing technology are speeding the pace of gene discovery. But the strength of evidence for a genes role in a condition can vary. For example, the size of the study matters: Those involving rare diseases are often small. A control group is also critical to ensure that a mutation is rare in the general population.

In the new method, researchers evaluate a mutation by combing the literature for two types of studies: those that identify the mutation in people with a condition, and those that examine the genes function. The researchers assign a numerical rating to each study according to factors such as its size, the presence of a control group, and the statistical significance of the findings.

They then combine these ratings and adjust them for the number of studies. The process yields a combined score for each mutation between 0 and 18. If the supporting evidence has been replicated and the mutation has a score of 12 or higher, the association is deemed definitive.

Pairs of independent groups used the method to evaluate each of 33 gene-condition associations. They then compared their assessments and made a final classification in conjunction with experts on the conditions.

Both groups came to similar conclusions as each other and the experts for 29 of the 33 associations. For example, they all judged the gene FGFR3 as definitively involved in achondroplasia, a form of dwarfism. And they determined there is limited evidence that SCN4B is involved in a cardiovascular condition called long QT syndrome. The findings appeared 1 June in the American Journal of Human Genetics.

The method is optimized for conditions that arise from inherited mutations in a single gene. But future iterations could allow researchers to interpret the genetic contributions to complex conditions such as autism, the researchers say.

The researchers have put their assessments of the 33 associations into a database called ClinGen. They invite other researchers to add results for other associations.

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New method rates strength of ties between genes, conditions - Spectrum

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Scientists Crispr the First Human Embryos in the US (Maybe) – WIRED

Posted: at 6:47 pm

As powerful as the gene-editing technique Crispr is turning out to beresearchers are using it to make malaria-proof mosquitoes , disease-resistant tomatoes, live bacteria thumb drives , and all kinds of other crazy stuffso far US scientists have had one bright line: no heritable modifications of human beings.

On Wednesday, the bright line got dimmer. MIT Technology Review reported that, for the first time in the US, a scientist had used Crispr on human embryos.

Behind this milestone is reproductive biologist Shoukhrat Mitalipov, the same guy who first cloned embryonic stem cells in humans. And came up with three-parent in-vitro fertilization . And moved his research on replacing defective mitochondria in human eggs to China when the NIH declined to fund his work. Throughout his career, Mitalipov has gleefully played the role of mad scientist, courting controversy all along the way.

Yesterdays news was no different. Editing viable human embryos is, if not exactly a no-no, at least controversial. Mitalipov and his colleagues at Oregon Health and Science University fertilized dozens of donated human eggs with sperm known to carry inherited disease-related mutations, according to the Tech Review report. At the same time, they used Crispr to correct those mutations. The team allowed the embryos to develop for a few days, and according to the original and subsequent reports a battery of tests revealed that the resulting embryos took up the desired genetic changes in the majority of their cells with few errors. Mitalipov declined to comment, saying the results were pending publication next month in a prominent scientific journal.

Big if true, as the saying goes. Mitalipovs group never intended to implant the eggs into a womb, but the embryos were clinical quality and probably could have survived implantation. That makes this only the second time scientists anywhere have edited viable embryosif thats indeed what Mitalipov did. Maybe this news is important enough to make it to the popular press without a peer-reviewed, published paper, but without one its impossible to be definitive on what Mitalipov actually did versus what hes claiming to have done.

Lets say its all real. Is it creepy? Maybe. But its also legalat least in Oregon, where embryo research is kosher as long as it doesnt involve federal funding. Officials at OHSU confirmed that the work took place there, and that it met the universitys Institutional Review Board criteria for safeguarding the rights and welfare of subjects involved in human researchpresumably the donors of the eggs and sperm, in this case. No one on the outside knows which exact genetic tweaks the researchers actually made or how safe the procedure was. Tech Review was light on details.

That lack of transparency could turn into a real problem. These are special cells and they should have special considerations given to them if youre going to Crispr them, says Paul Knoepfler, a stem cell researcher at UC Davis who wrote a book on designer babies called GMO Sapiens . Knoepfler worries that incautious work like this could lead to political backlash against Crispr more broadly, like what happened to stem cell research in the 2000s under George W. Bush. We dont have an unlimited amount of time to talk about these things and figure them out, Knoepfler says. This stuff is moving at warp speed and we need to get our act together on establishing guidelines that are much clearer about what is OK and what isnt.

Not that scientists havent tried. In February the National Academy of Sciences produced a report with its first real guidelines for Crispr research. It did not go so far as to place a moratorium on gene editing of the human germlinemodifications that a persons offspring could inheritthough it did suggest limitations. Scientists are only supposed to edit embryos to prevent a baby from inheriting a serious genetic disease, and only if the doctors meet specific safety and ethical criteria, and if the parents have no other options.

Those obstacles arent insurmountable, and a particularly slippery slope winds between them. At the Aspen Ideas Festival last month, UC Berkeley biologist Jennifer Doudna , one of the people who discovered Crispr, stressed the need for a unified policy on germline editing before scientists really start doing it. Once that begins, I think it will be very hard to stop, she said. Itll be very hard to say, Ill do this thing but not that thing. And at that point, who decides?

In the US, itll probably be the federal government. Congress has already banned federal funding for the human testing of gene-editing techniques that could produce modified babies. That provision is tucked into an appropriations rider that has to be renewed each year, so its an annually moving target. Congress has also barred the US Food and Drug Administration from even considering clinical trials of embryo editing. But even if those laws did change, the FDAs approval process for these kinds of technologies is among the strictest in the world. They would require years and years of animal studies before the first test embryo could conceivably be conceived.

Sarah Zhang

Crispr Is Getting Better. Now It's Time to Ask the Hard Ethical Questions

Nick Stockton

Read This Before You Freak Out Over Gene-Edited Superbabies

Nic Cavell

The UK Just Green-Lit Crispr Gene Editing in Human Embryos

For this to be something other than just a reckless person doing something crazy, were looking at least a decade and maybe more of safety testing, says Hank Greely, a law professor and bioethicist at Stanford. In countries with laxer laws, it could happen soonerlike, say, China , where scientists have reported three attempts at using Crispr to modify human embryos.

The first two studies used genetically defective embryos that could never come to term, but the most recent, published in March, used viable embryos. And while all three studies produced mixed results, Crispr was most successful at repairing faulty genes in the normal embryos. Experiments are also moving forward in Sweden and the UK that use Crispr to knock out different genes in viable embryos to study effects on development.

Still, dont panic . Modifying embryos that are never going to be implanted is not close to the boundary, Greely says. Doing it in embryos you might want to implant is real close to the boundary and shouldnt be done without any discussion. But thats not what Mitalipov did. Maybe. All the institutions apparently involved with the research refused to comment citing an embargo, which would make sense if there were an embargo to break. There wasn't, according to Antonio Regalado, who covers genetics for Tech Review but didn't write this story. Consider it instead just a good new-fashioned leak.

If you think of viable-embryo Crispr research as a journey and not a destination, right now scientists all over the world are on the same path. But at some point the road will fork: Someone will implant an engineered embryo into a human womb. The work coming out of China and Mitalipov's lab has this implied assumption that someday it will wind up being used heritably in humans, Knoepfler says. And I think that requires a unique obligation for being more open about it. Mitalipov's research is not a good start.

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Why Are Tardigrades the World’s Hardiest Creature? DNA Offers Clues – Smithsonian

Posted: at 6:47 pm

Ramazzottius varieornatus, a species of tardigrade, photographed with scanning electron microscope

smithsonian.com July 27, 2017

Despite their tiny stature and their adorable nicknamesmoss piglets, water bearsthe tenacious tardigrade has some tremendous capabilities.Well-known for beingone of the hardiest-known forms of life, tardigrates can survivedesiccation,deadly radiation, and even thevacuum of space. Now researchers may finally be starting to tease out the genetic basis of tardigrade superpowers.

In 2015, a study published in the Proceedings of the National Academy of Sciences, suggested that some of their superpowers could come from an another oddballaccomplishment of the microscopic creature:DNA theft. The researchers sequenced a tardigrade species' genome and found that roughly one-sixth of its DNA (around 6,600 genes) appeared to come from other organisms, mainly bacteria. These sections of DNA were thought to be picked up through the process of so-calledhorizontal gene transfers, which is a commoninbacteria and other microbes (scientists have only recently discovered some animals can also do this).

If they can acquire DNA from organisms already living in stressful environments, they may be able to pick up some of the same tricks, researcher Thomas Boothby,a Life Sciences postdoctoral fellow at the University of North Carolina, Chapel Hill,told Smithsonian.com in 2015.

But just a week after it was published, the studyfaced steep opposition. Another group of tardigrade researchers claimed that much of the supposedly "stolen" DNA likely came from contamination of the samples from bacteria that lived alongside the tardigrades. "There is no way, biologically, these can be part of the same genome," geneticistMarkBlaxter told Ed Yong of the Atlantic in 2015.

Now Blaxterand his team are back with a new analysis of the tardigrade genome, publishedin the journal PLOSBiology."I have been fascinated by these tiny, endearing animals for two decades," Blaxtersays in a statement. "It is wonderful to finally have their true genomes, and to begin to understand them."

This latest study compares the genomes of two tardigrade species:Hypsibius dujardini and Ramazzottius varieornatus. Though the research hints at some of the reasons behind tardigrade superpowers, italso sheds light on how little we know about this adaptable critter.

The main superpower the researchers focused on was how the creatures can dry out at years at a time. For most life, desiccationmeans death. So the team examined genes that are activated under dry conditions, discovering a set of proteins that appear to fill in for water lost in tardigrade cells. By taking the place of the missing water molecules, the proteins prevent the cells structures from collapsing and allows the tiny tardigrade to revive itself when water returns.

The latest study isalso providing clues into how tardigrades came to be. Scientistspreviously suspected that tardigrades may be closely related to the phylum of arthropods, which includes insects and spiders. But this latest study strongly suggeststhattardigradesare actually more closely related to nematodes, also known as roundworms. The researchers examined a set genes that determine the layout of an embryo called "HOXgenes." They found that, similar to nematodes,both species oftardigradelackfive commons genes from this set.

As for the controversy over how much gene transfer really takes place? It appears to be mostly settled now, reports Tina Hesman Saey from Science News."The authors' analysis methods, and their methods for getting clean DNA, are certainly an improvement over our own earlier methods," Bob Goldstein, who supervisedBoothby's 2015 research, tellsSaey.

But the debate about tardigrades amazing superpowers and where they belong on the tree of life is far from settled. Are tardigradesmoreclosely related to arthropods or nematodes? "Its still an open question," phylogeneticist Max Telford tellsSaey.

Even so, Blaxter hopes that his team's tardigrade genomes will continue to help tease out tardigrade'stangled relationships as well as assist in the development of useful applications for the creatures superpowers."This is just the start," Blaxter says in a statement. "With the DNA blueprint we can now find out how tardigrades resist extremes, and perhaps use their special proteins in biotechnology and medical applications."

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DNA Repair Under the Influence May Raise Risk of Cancer – Genetic Engineering & Biotechnology News

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Genomic infrastructure needs constant upkeep but still falls into disrepair, upkeep or no, if upkeep quality is compromised. In fact, if DNA repairs are poorly executed, they may not only fail to correct the mutations that are due to ordinary wear and tear, they may also introduce additional mutations. These additional mutations, which appear to be an important cause of cancer, have been associated with DNA repairs that are executed under the influence of alcohol. Other adverse influences on DNAs repair crews include sunlight and smoking.

Cancer is mostly caused by changes in the DNA of our cells that occur during our lifetime rather than those that we inherit from our parents. Identifying the causes of these mutations is a difficult challenge because many processes can result in an identical DNA sequence change in a genome.

Regardless, it is possible to determine which mutations may be attributable to impaired DNA repair mechanisms. What is required, say researchers at the Centre for Genomic Regulation (CRG) in Barcelona, is the right kind of inspection.

The researchers decided to focus on clusters of mutations while scrutinizing more than a thousand tumor genomes, meaning that they hunted for mutations that occur close together in the same part of the genome. Such clusters are highly unlikely to happen by chance. Ultimately, the researchers hoped to get a better picture of the mutagenic factors that affect human cells and that might cause cancer.

Details of the researchers work appeared July 27 in the journal Cell, in an article entitled, Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes. This article makes the case that if mutations occur in clusters, as opposed to being sprinkled randomly through the genome, genome inspectors should suspect DNA repair crews of doing shoddy work.

"Clustered mutations are likely to be generated at the same moment in time, so by looking at several neighboring mutations at once, we can have a better understanding of what has damaged the DNA," says Fran Supek, Ph.D., first author of the Cell article, CRG researcher, and group leader and 'Ramon y Cajal' fellow at the Institute for Research in Biomedicine.

Of nine clustered mutation signatures identified from >1,000 tumor genomes, three relate to variable APOBEC activity and three are associated with tobacco smoking, wrote the authors of the Cell article. An additional signature matches the spectrum of translesion DNA polymerase eta (POLH).

In lymphoid cells, these mutations target promoters, consistent with AID-initiated somatic hypermutation. In solid tumors, however, they are associated with UV exposure and alcohol consumption and target the H3K36me3 chromatin of active genes in a mismatch repair (MMR)-dependent manner.

These results revealed new major mutation-causing processes, including an unusual case of DNA repair which should normally safeguard the genome from damage, but is sometimes subverted and starts introducing clustered mutations.

"Our work provides information about new biological mechanisms underlying some types of cancers, asserted Dr. Supek. For example, the main oncogenes involved in melanoma are well-known, but it is not known what causes the exact mutations that activate these genes to cause cancer. While many mutations in melanoma are recognized to be a direct consequence of UV radiation, the origin of mutations affecting the most important oncogenes is still a mystery. We identified a mechanism that has the capacity to cause these oncogenic, cancer-driving mutations in melanoma."

One of these new mutational processes is highly unusual and it is most evident in active genes. These regions are usually protected by DNA repair mechanismsin other words, DNA repair is directed towards the places where it is needed most.

"Our results suggest that exposure to carcinogens, such as high amounts of alcohol, can shift the balance of the DNA repair machinery from a high-fidelity mode to an error-prone mode, causing the mutation rates to shoot up in the most important bits of the genome," explained Ben Lehner, Ph.D., ICREA research professor at the EMBL-CRG Systems Biology Research Unit and principal investigator of the current study. "This error-prone repair generates a large number of mutations overall and is likely to be a major mutation source in human cells."

DNA repair is extremely important because our bodies are constantly renewing their cells which involves copying more than two meters of DNA and errors inevitably get introduced. Moreover, mutagens in the environment like sunlight and tobacco smoke damage DNA and this damage has to be corrected. DNA repair is normally exquisitely accurate, but some types of damage can only be corrected using lower-fidelity "spellcheckers." It is the mistakes made by one of these less accurate spellcheckers that cause many of the mutations seen in different types of tumors, including liver, colon, stomach, esophagus, and lung cancer.

Alcohol is a well-known contributor to many types of cancer, but the reasons for this are surprisingly unclear. The current study suggests that one effect of alcohol, when consumed in large amounts, is to increase the use of low-fidelity DNA repair, thereby increasing the mutation rate in the most important regions of the genome. This finding provides a first glimpse into one mechanism by which alcohol may contribute to cancer risk. High exposure to sunlight seems to have a similar consequence.

As another part of the study the CRG scientists also found that cigarette smoking is associated with several different kinds of clustered mutations, further revealing the details of how smoking results in horrific damage to our DNA.

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Storing data in DNA brings nature into the digital universe – San … – San Francisco Chronicle

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(The Conversation is an independent and nonprofit source of news, analysis and commentary from academic experts.)

Luis Ceze, University of Washington and Karin Strauss, University of Washington

(THE CONVERSATION) Humanity is producing data at an unimaginable rate, to the point that storage technologies cant keep up. Every five years, the amount of data were producing increases 10-fold, including photos and videos. Not all of it needs to be stored, but manufacturers of data storage arent making hard drives and flash chips fast enough to hold what we do want to keep. Since were not going to stop taking pictures and recording movies, we need to develop new ways to save them.

Over millennia, nature has evolved an incredible information storage medium DNA. It evolved to store genetic information, blueprints for building proteins, but DNA can be used for many more purposes than just that. DNA is also much denser than modern storage media: The data on hundreds of thousands of DVDs could fit inside a matchbox-size package of DNA. DNA is also much more durable lasting thousands of years than todays hard drives, which may last years or decades. And while hard drive formats and connection standards become obsolete, DNA never will, at least so long as theres life.

The idea of storing digital data in DNA is several decades old, but recent work from Harvard and the European Bioinformatics Institute showed that progress in modern DNA manipulation methods could make it both possible and practical today. Many research groups, including at the ETH Zurich, the University of Illinois at Urbana-Champaign and Columbia University are working on this problem. Our own group at the University of Washington and Microsoft holds the world record for the amount of data successfully stored in and retrieved from DNA 200 megabytes.

Traditional media like hard drives, thumb drives or DVDs store digital data by changing either the magnetic, electrical or optical properties of a material to store 0s and 1s.

To store data in DNA, the concept is the same, but the process is different. DNA molecules are long sequences of smaller molecules, called nucleotides adenine, cytosine, thymine and guanine, usually designated as A, C, T and G. Rather than creating sequences of 0s and 1s, as in electronic media, DNA storage uses sequences of the nucleotides.

There are several ways to do this, but the general idea is to assign digital data patterns to DNA nucleotides. For instance, 00 could be equivalent to A, 01 to C, 10 to T and 11 to G. To store a picture, for example, we start with its encoding as a digital file, like a JPEG. That file is, in essence, a long string of 0s and 1s. Lets say the first eight bits of the file are 01111000; we break them into pairs 01 11 10 00 which correspond to C-G-T-A. Thats the order in which we join the nucleotides to form a DNA strand.

Digital computer files can be quite large even terabytes in size for large databases. But individual DNA strands have to be much shorter holding only about 20 bytes each. Thats because the longer a DNA strand is, the harder it is to build chemically.

So we need to break the data into smaller chunks, and add to each an indicator of where in the sequence it falls. When its time to read the DNA-stored information, that indicator will ensure all the chunks of data stay in their proper order.

Now we have a plan for how to store the data. Next we have to actually do it.

After determining what order the letters should go in, the DNA sequences are manufactured letter by letter with chemical reactions. These reactions are driven by equipment that takes in bottles of As, Cs, Gs and Ts and mixes them in a liquid solution with other chemicals to control the reactions that specify the order of the physical DNA strands.

This process brings us another benefit of DNA storage: backup copies. Rather than making one strand at a time, the chemical reactions make many identical strands at once, before going on to make many copies of the next strand in the series.

Once the DNA strands are created, we need to protect them against damage from humidity and light. So we dry them out and put them in a container that keeps them cold and blocks water and light.

But stored data are useful only if we can retrieve them later.

To read the data back out of storage, we use a sequencing machine exactly like those used for analysis of genomic DNA in cells. This identifies the molecules, generating a letter sequence per molecule, which we then decode into a binary sequence of 0s and 1s in order. This process can destroy the DNA as it is read but thats where those backup copies come into play: There are many copies of each sequence.

And if the backup copies get depleted, it is easy to make duplicate copies to refill the storage just as nature copies DNA all the time.

At the moment, most DNA retrieval systems require reading all of the information stored in a particular container, even if we want only a small amount of it. This is like reading an entire hard drives worth of information just to find one email message. We have developed techniques based on well-studied biochemistry methods that let us identify and read only the specific pieces of information a user needs to retrieve from DNA storage.

At present, DNA storage is experimental. Before it becomes commonplace, it needs to be completely automated, and the processes of both building DNA and reading it must be improved. They are both prone to error and relatively slow. For example, todays DNA synthesis lets us write a few hundred bytes per second; a modern hard drive can write hundreds of millions of bytes per second. An average iPhone photo would take several hours to store in DNA, though it takes less than a second to save on the phone or transfer to a computer.

These are significant challenges, but we are optimistic because all the relevant technologies are improving rapidly. Further, DNA data storage doesnt need the perfect accuracy that biology requires, so researchers are likely to find even cheaper and faster ways to store information in natures oldest data storage system.

This article was originally published on The Conversation. Read the original article here: http://theconversation.com/storing-data-in-dna-brings-nature-into-the-digital-universe-78226.

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Storing data in DNA brings nature into the digital universe – Phys.Org

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July 28, 2017 by Luis Ceze And Karin Strauss, The Conversation The next frontier of data storage: DNA. Credit: ymgerman/Shutterstock.com

Humanity is producing data at an unimaginable rate, to the point that storage technologies can't keep up. Every five years, the amount of data we're producing increases 10-fold, including photos and videos. Not all of it needs to be stored, but manufacturers of data storage aren't making hard drives and flash chips fast enough to hold what we do want to keep. Since we're not going to stop taking pictures and recording movies, we need to develop new ways to save them.

Over millennia, nature has evolved an incredible information storage medium DNA. It evolved to store genetic information, blueprints for building proteins, but DNA can be used for many more purposes than just that. DNA is also much denser than modern storage media: The data on hundreds of thousands of DVDs could fit inside a matchbox-size package of DNA. DNA is also much more durable lasting thousands of years than today's hard drives, which may last years or decades. And while hard drive formats and connection standards become obsolete, DNA never will, at least so long as there's life.

The idea of storing digital data in DNA is several decades old, but recent work from Harvard and the European Bioinformatics Institute showed that progress in modern DNA manipulation methods could make it both possible and practical today. Many research groups, including at the ETH Zurich, the University of Illinois at Urbana-Champaign and Columbia University are working on this problem. Our own group at the University of Washington and Microsoft holds the world record for the amount of data successfully stored in and retrieved from DNA 200 megabytes.

Preparing bits to become atoms

Traditional media like hard drives, thumb drives or DVDs store digital data by changing either the magnetic, electrical or optical properties of a material to store 0s and 1s.

To store data in DNA, the concept is the same, but the process is different. DNA molecules are long sequences of smaller molecules, called nucleotides adenine, cytosine, thymine and guanine, usually designated as A, C, T and G. Rather than creating sequences of 0s and 1s, as in electronic media, DNA storage uses sequences of the nucleotides.

There are several ways to do this, but the general idea is to assign digital data patterns to DNA nucleotides. For instance, 00 could be equivalent to A, 01 to C, 10 to T and 11 to G. To store a picture, for example, we start with its encoding as a digital file, like a JPEG. That file is, in essence, a long string of 0s and 1s. Let's say the first eight bits of the file are 01111000; we break them into pairs 01 11 10 00 which correspond to C-G-T-A. That's the order in which we join the nucleotides to form a DNA strand.

Digital computer files can be quite large even terabytes in size for large databases. But individual DNA strands have to be much shorter holding only about 20 bytes each. That's because the longer a DNA strand is, the harder it is to build chemically.

So we need to break the data into smaller chunks, and add to each an indicator of where in the sequence it falls. When it's time to read the DNA-stored information, that indicator will ensure all the chunks of data stay in their proper order.

Now we have a plan for how to store the data. Next we have to actually do it.

Storing the data

After determining what order the letters should go in, the DNA sequences are manufactured letter by letter with chemical reactions. These reactions are driven by equipment that takes in bottles of A's, C's, G's and T's and mixes them in a liquid solution with other chemicals to control the reactions that specify the order of the physical DNA strands.

This process brings us another benefit of DNA storage: backup copies. Rather than making one strand at a time, the chemical reactions make many identical strands at once, before going on to make many copies of the next strand in the series.

Once the DNA strands are created, we need to protect them against damage from humidity and light. So we dry them out and put them in a container that keeps them cold and blocks water and light.

But stored data are useful only if we can retrieve them later.

Reading the data back

To read the data back out of storage, we use a sequencing machine exactly like those used for analysis of genomic DNA in cells. This identifies the molecules, generating a letter sequence per molecule, which we then decode into a binary sequence of 0s and 1s in order. This process can destroy the DNA as it is read but that's where those backup copies come into play: There are many copies of each sequence.

And if the backup copies get depleted, it is easy to make duplicate copies to refill the storage just as nature copies DNA all the time.

At the moment, most DNA retrieval systems require reading all of the information stored in a particular container, even if we want only a small amount of it. This is like reading an entire hard drive's worth of information just to find one email message. We have developed techniques based on well-studied biochemistry methods that let us identify and read only the specific pieces of information a user needs to retrieve from DNA storage.

Remaining challenges

At present, DNA storage is experimental. Before it becomes commonplace, it needs to be completely automated, and the processes of both building DNA and reading it must be improved. They are both prone to error and relatively slow. For example, today's DNA synthesis lets us write a few hundred bytes per second; a modern hard drive can write hundreds of millions of bytes per second. An average iPhone photo would take several hours to store in DNA, though it takes less than a second to save on the phone or transfer to a computer.

These are significant challenges, but we are optimistic because all the relevant technologies are improving rapidly. Further, DNA data storage doesn't need the perfect accuracy that biology requires, so researchers are likely to find even cheaper and faster ways to store information in nature's oldest data storage system.

Explore further: Researchers break record for DNA data storage

This article was originally published on The Conversation. Read the original article.

University of Washington and Microsoft researchers have broken what they believe is the world record for the amount of digital data successfully storedand retrievedin DNA molecules.

(Phys.org) -- A team of researchers in the US has successfully encoded a 5.27 megabit book using DNA microchips, and they then read the book using DNA sequencing. Their experiments show that DNA could be used for long-term ...

Humanity may soon generate more data than hard drives or magnetic tape can handle, a problem that has scientists turning to nature's age-old solution for information-storageDNA.

Hand-written letters and printed photos seem quaint in today's digital age. But there's one thing that traditional media have over hard drives: longevity. To address this modern shortcoming, scientists are turning to DNA ...

Technology companies routinely build sprawling data centers to store all the baby pictures, financial transactions, funny cat videos and email messages its users hoard.

We are producing more data than ever before, with more than 2.5 quintillion bytes produced every day, according to computer giant IBM. That's a staggering 2,500,000,000,000 gigabytes of data and it's growing fast.

(Phys.org)Researchers have designed an optical lens that exhibits two properties that so far have not been demonstrated together: self-focusing and an optical effect called the Talbot effect that creates repeating patterns ...

Researchers have taken an important step toward the long-sought goal of a quantum computer, which in theory should be capable of vastly faster computations than conventional computers, for certain kinds of problems. The new ...

Washington State University physicists have found a way to write an electrical circuit into a crystal, opening up the possibility of transparent, three-dimensional electronics that, like an Etch A Sketch, can be erased and ...

Researchers at the UAB have come up with a method to measure the strength of the superposition coherence in any given quantum state. The method, published in the journal Proceedings of the Royal Society A, is based on the ...

The inner workings of the human brain have always been a subject of great interest. Unfortunately, it is fairly difficult to view brain structures or intricate tissues due to the fact that the skull is not transparent by ...

The perfect performance of superconductors could revolutionize everything from grid-scale power infrastructure to consumer electronics, if only they could be coerced into operating above frigid temperatures. Even so-called ...

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Tardigrades Are Still a Complete Evolutionary Mystery – Gizmodo

Posted: at 6:46 pm

Image: Kazuharu Arakawa and Hiroki Higashiyama, background edited by Ryan F. Mandelbaum

Youre probably aware that natures most badass animal is undoubtedly the tiny tardigrade, or water bear. They might be small, but unlike your weak butt, they can live a life without water, withstand temperatures from -328 to 304 degrees Fahrenheit, and even survive the depths of space. How did evolution make such a strange creature, and who are its relatives?

The answer is still: _()_/

A team of scientists in the United Kingdom and Japan sequenced one tardigrade species genome and compared it to another to unlock the animals secrets, including the genetic basis of its survival skills. But as far as a closest evolutionary relative, the datas still inconclusive.

Tardigrade durability lies in their ability to lose all of their water and curl up into tuns. Losing the water from cells should be a lethal process, but theres a host of molecules in the tardigrades cells that seem to prevent the cell death, according to past research published in PLoS One. That paper also reports that certain nematodes and arthropods seem to be able to dry up, too.

Other papers have found difficulty determining what animals the tardigrade may have evolved from and the biological basis for its superpowers, but have identified certain responsible genes, according to a new study published in PLoS Biology. Theyve also implied that lots of the water bears genome, possibly a sixth of it, came from horizontal gene transfer, genetic material acquired from other animals, including those of other species.

Water bears, known to scientists as tardigrades, are famously adorable microscopic creatures who

So, this team put together a genome for the Hypsibius dujardini tardigrade species from around 900,000 individuals and compared it to the existing genome of the Ramazzottius varieornatus species to see what they could learn.

Aside from differences in the genome sizes (H. dujardiniswas much larger), they found further information about the genes that control the proteins that protect the tardigrades cells, according to New Scientist. On top of that, the amount of horizontal gene transfer seemed much lower than previous studies have suggested, closer to one percent of their genome. That would take a major confounding factor out of their evolutionary story.

But despite all the work, the scientists still couldnt really tell whether the water bear is more closely related to the nematode, or to arthropods like insects and crustaceans.

Even the full genomes of two tardigrades, which the authors report here, were not sufficient to decide whether tardigrades were closer to the arthropods or the nematodes, biologist Thorsten Burmester from the University of Hamburg in Germany, who was not involved with the study, told The Scientist in an email.

Of course, this is a single paper and an ongoing story, so more research will naturally shed light on whats really going on.

Science has lost yet another round against the seemingly indefatigable water bear. The tardigrade refuses to be fully understood.

[PLoS Biology]

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16 Genetic Markers Can Shorten Life Span – R & D Magazine

Posted: at 6:45 pm

Why do some of us live longer than others? While the environment in which we live, including our socio-economic status or the food we eat, plays the biggest part, about 20 to 30% of the variation in human lifespan comes down to our genome. Changes in particular locations in our DNA sequence, such as single-nucleotide polymorphisms (SNPs), could therefore hold some of the keys to our longevity.

Until now, the most comprehensive studies had found only two hits in the genome, points out Prof. Zoltan Kutalik, Group Leader at SIB and assistant professor at the Institute of Social and Preventive Medicine (CHUV).

In a new study, a team of scientists, led by Kutalik, has used an innovative computational approach to analyse a dataset of 116,279 individuals and probe 2.3 million human SNPs.

An unparalleled number of SNPs associated with lifespan (16) were uncovered, including 14 new to science. In our approach, we prioritized changes in the DNA known to be linked to age-related diseases in order to scan the genome more efficiently, says Kutalik. This is the largest set of lifespan-associated genetic markers ever uncovered.

About 1 in 10 people carry some configurations of these markers that shorten their life by over a year compared with the population average. In addition, a person inheriting a lifespan-shortening version of one of these SNPs may die up to seven months earlier.

The approach also enabled the researchers to explore how the DNA changes affected lifespan in a holistic way. They found that most SNPs had an effect on lifespan by impacting more than a single disease or risk factor, for example through being more addicted to smoking as well as through being predisposed to schizophrenia.

The discovered SNPs, combined with gene expression data, allowed the researchers to identify that lower brain expression of three genes neighbouring the SNPs (RBM6, SULT1A1 and CHRNA5, involved in nicotine dependence) was causally linked to increased lifespan.

These three genes could therefore act as biomarkers of longevity, i.e. survival beyond 85-100 years. To support this hypothesis, we have shown that mice with a lower brain expression level of RBM6 lived substantially longer, comments Prof. Johan Auwerx, professor at the EPFL.

"Interestingly, the gene expression impact of some of these SNPs in humans is analogous to the consequence of a low-calorie diet in mice, which is known to have positive effects on lifespan, adds Prof. Marc Robinson-Rechavi, SIB Group Leader and professor at the University of Lausanne.

Our findings reveal shared molecular mechanisms between human and model organisms, which will be explored in more depth in the future, concludes Prof. Bart Deplancke, SIB Group Leader and professor at the EPFL.

This study, which is a part of the AgingX Project supported by SystemsX.ch (the Swiss Initiative in Systems Biology), therefore brings us a step closer to grasping the mechanisms of human aging and longevity. It also proposes an innovative computational framework to improve the power of genomewide investigations of diseases more generally. As such, the framework could have promising applications in the field of personalized medicine.

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Economist Pippa Malmgren identifies signals of disguised inflation – The Australian Financial Review

Posted: at 6:45 pm

Pippa Malmgren: "Wherever you go in the world, everyone's totally obsessed with the rising cost of living."

To casual readers, the cover of the June 2009 edition of British Vogue, featuring supermodel Natalia Vodianova in the nude, was a little unusual and perhaps a bit daring.

To London-based economist and entrepreneur Pippa Malmgren, however, the magazine's departure from its usual celebration of haute couture was a sign that the fashion industry had lost a large slice of its consumer base.

These were "the young who were receiving unsolicited credit cards with large borrowing balances in the mail", writes Malmgren in the first chapter of her just-launched book, Signals.

The rest, as they say, is history. The shockwaves of a financial crisis that started in Wall Street rolled out across Main Street, taking with them businesses, jobs, confidence and spending power.

"Once the financial crisis hit, the fashion industry became aware that it had no idea who its new customers would be," says Malmgren.

In Sydney to promote Signals, the former adviser to Barack Obama and one-time deputy head of global strategy at UBS says the fiscal pump-priming and extreme monetary easing employed by governments and central banks to refloat the global economy seem to have worked.

And while growth remains sluggish and inflation slow to take hold, there are signs things are gradually returning to, if not a pre-GFC type of normal, a "new" normal with its own set of economic characteristics and signals.

One of those is disguised inflation.

"All the professional data everywhere you go says there's no inflation at all," says Malmgren.

"But wherever you go in the world, everyone's totally obsessed with the rising cost of living.

"Young people can't afford to buy a home anymore; people's rent is going up to the point where the kids boomerang back into the parental home; rail fares; grocery bills; the list goes on," she says.

Malmgren has identified "shrinkflation" where the price of an item remains the same but the weight or size is reduced as a type of disguised inflation that is straining household budgets.

Another statistical distortion can be found in hedonic pricing, where, for example, the computing power of a tablet can double over a couple of years, but the price rises only a little, if at all.

In the same way, chemically-treated fresh fruit can often have such a long shelf-life that external price pressures from rising energy and labour costs pass it by.

"Hedonics can make it look like prices are falling, but we often only include the items that are falling and we are ignoring the ones that go up," says Malmgren.

And while she concedes that fears in recent years of disinflation becoming deflation were well-founded, this also means that households have become ultra-sensitive to even the slightest rise in consumer prices. Heavy government and personal debt, added to greater human longevity, also means less relative spending on social services and tighter budgets in retirement.

All of this along with technological disruption to job markets helps explain the rise of populist politics across the West, she says.

The return of inflationary pressures also goes some way to explaining why China, the world's second largest economy and most populous, is stepping up its drive to secure food and energy sources across the globe, with the much-touted "One Belt, One Road" infrastructure push at the heart of this.

"The Chinese view is that the West is going to default on the debt owed to it, because don't forget that it financed our overspending," says Malmgren.

"Beijing says: 'You will default via inflation, which is why interest rates were lowered so much and cash was thrown at the economy'.

"It says: 'You will pay me back, but that money will buy me a smaller stake in that Beijing restaurant that I wanted to invest in than it would have a few years ago.'"

Indeed, Malmgren attributes much of China's modern expansion mainly the One Belt One Road program and island-building in the disputed South China Sea to Beijing's concerns about rising food and energy costs, and its determination to secure new export and import markets.

Surging wages and costs mean the country has also priced itself out of many of the manufacturing industries it dominated in the 1980s and 1990s, to the point where it is often now more economical with quality control and access to consumer markets taken into account to make electronic components in Mexico or the United States.

This, too, is weighing on China's strategic, long-term thinking.

Malmgren goes further to suggest that the resurgence of old geopolitical tensions, and emergence of new ones, is behind a revival in defence spending, particularly by global powers such as the US, China and Russia. She calls this "the new quantitative easing".

"The new way governments are pumping money into the economy is via defence spending," she says.

"This is why the weakness of the world economy actually converted the peace dividend [from the end of the Cold War] into a conflict premium," she says.

"It's a grab for resources that's all it is.

"This grab always existed, but it has intensified because of the debt problem and the return of inflation.

"What is in the South China Sea? Ten per cent of the world's fish supplies," she says.

So faced with rising inflation, renewed geopolitical unease, the spread of populism and massive disruption to traditional labour markets, what is today's fashion telling us about the future?

"Transparent jeans," says Malmgren, "I think are a cry for transparency, a reminder that the emperor is not wearing clothes.

"In fact, it's all a bit like that cover of Vogue."

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