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Genetic sequencing offers same-day TB testing – Medical Xpress – Medical Xpress

Posted: March 10, 2017 at 2:47 am

March 9, 2017 Credit: University of Oxford

Researchers have for the first time shown that standard tuberculosis (TB) diagnostic tests can be replaced by a sub-24 hour genetic test applied to the TB bacteria in a patient's sputum.

It currently takes up to two months to obtain the full diagnostic information for a patient with TB, as the bacteria grow very slowly in the laboratory. Scientists have sought for years to bypass this time-consuming step by examining the bacterial DNA directly from a sputum sample. However since most of the cells in sputum are human, it is difficult to spot the signal (TB DNA) within the noise (human and other bacteria) and even harder to find a method that might be affordable and practical across the world.

The new process, led by researchers from the University of Oxford and described in the Journal of Clinical Microbiology, rapidly processes the sputum to preferentially retain TB, using simple and relatively affordable materials, and then sequences and analyses the bacterial DNA. The Oxford team worked with researchers from the University of Nottingham, the Foundation for Medical Research, Mumbai, and Public Health England.

Until recently, DNA sequencing has required heavy machines and a well-equipped laboratory, which has limited its potential applications in the field. In this study, researchers have also shown that by using a new, real-time, handheld sequencing device (Oxford Nanopore MInION) they can achieve identical results, but with a process that might be applied anywhere in the world. In one example they achieved an effective turnaround time of 12.5 hours.

By using DNA sequencing, not only does this method detect drug-resistant TB bugs vital information for the patient - but it also enables the tracking the geographical spread of strains, which is hugely valuable to public health workers, and something traditional tests cannot do.

TB is one of the top causes of death by infectious disease in the world, with 10.4 million cases of the disease in 2015, and 1.1 million deaths directly attributable to TB.

Dr Zamin Iqbal from the Wellcome Trust Centre of Human Genetics at Oxford University, who co-led the study, said: 'One of the great challenges with the management of TB is the need for rapid, comprehensive tests that do not require a hi-tech laboratory. We have shown that it is possible to get all information needed both for clinical management and for tracking disease spread, all within 24 hours of taking the sample from the patient. Further, by achieving this with a handheld device, we open the door to in-field diagnostic tests for TB.'

Dr Antonina Votintseva, lead author, said: 'Although genome sequencing has been used increasingly in research for analysing TB, the limiting factor has continued to be the weeks spent culturing the bacteria in the laboratory. By developing an affordable and simple method for extracting M. tuberculosis DNA direct from sputum, and thereby cutting turnaround time to below 24 hours, we have taken a great step towards comprehensive point-of-care diagnosis.

'There is more work to be done of course - our goal is to return test results before the patient leaves their clinic, with huge potential for reducing transmission of the disease, and of drug resistance.'

Dr Stephen Caddick, Wellcome Trust Director of Innovation, said: 'It can take many weeks for conventional tests for TB to provide results. Dr Iqbal and his team have made a significant breakthrough by developing a low-cost DNA extraction method which enables TB whole genome sequencing direct from patient samples and provides results in less than a day. The ability to use this technology to identify bacterial strains that may be resistant to antibiotic treatment, particularly in low and middle income countries, could be invaluable in the fight to tackle drug-resistant infections.'

Explore further: New laptop program can identify drug resistance from bacterial genomes

More information: Antonina A. Votintseva et al. Same-day diagnostic and surveillance data for tuberculosis via whole genome sequencing of direct respiratory samples., Journal of Clinical Microbiology (2017). DOI: 10.1128/JCM.02483-16

Scientists have developed an easy-to-use computer program that can quickly analyse bacterial DNA from a patient's infection and predict which antibiotics will work, and which will fail due to drug resistance. The software ...

The time needed to genetically sequence the bacteria causing tuberculosis (Mtb) from patient samples has been reduced from weeks to days using a new technique developed by a UCL-led team. This could help health service providers ...

Researchers using DNA sequencing to profile antibiotic resistance in infection have achieved a turnaround time from 'sample to answer' of less than four hours for urinary tract infections (UTIs).

Microbes in the gut can "disarm" antibiotics, leading to antibiotic resistance and incurable infections. A new method makes it possible to quickly detect resistance genes and, hence, choose the most efficient type of antibiotic ...

As World TB day (24 March) marks global efforts to eliminate tuberculosis as a public health problem by 2035, Oxford University researchers, in partnership with Public Health England (PHE), will lead a new worldwide collaboration ...

The U.S. medical community needs a better understanding of the biology of pain and how it plays out in individuals to be able to combat the national epidemic of addiction to painkillers, according to researchers from the ...

Leishmaniasis, caused by the bite of a sand fly carrying a Leishmania parasite, infects around a million people a year around the world. Now, making progress toward a vaccine against the parasitic disease, researchers reporting ...

Researchers have for the first time shown that standard tuberculosis (TB) diagnostic tests can be replaced by a sub-24 hour genetic test applied to the TB bacteria in a patient's sputum.

For 130 years, surgery has been the standard treatment for appendicitisinflammation of the appendix, a short tube extending from the colon.

The diagnosis, understanding and management of Crohn's disease may have just received a helping hand from a joint ASU Biodesign Institute and Mayo Clinic study aimed at developing a better blood test for the disease.

Duke scientists have discovered a biomarker of the runaway immune response to infection called sepsis that could improve early diagnosis, prognosis, and treatment to save lives.

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DNA used to create suspect sketch – Boston Herald

Posted: at 2:47 am

The sister of a Brockton woman murdered by a serial rapist and killer said a composite sketch based on his DNA gives her new hope the suspect will be caught before he strikes again.

Its amazing. I didnt think it was going to happen, Carol Peters told the Herald last night, more than two years after the skeletal remains of her sister, Linda Schufeldt, were discovered in the woods together with the body of Ashley Mylett on Dec. 28, 2014.

Nothings going to bring her back, but if they catch him, it will make such a difference not only for us, but also for the other women and their families and keep him from doing it again, Peters said from her Kansas home.

State police detectives and Brockton police have received numerous tips since Tuesday, when Plymouth District Attorney Timothy J. Cruz released a computer-generated composite sketch of the wanted man.

The startlingly lifelike image shows a brown- or light-brown-skinned man with black hair and black or brown eyes who has been forensically linked to the two murders, as well as three rapes that were committed in October and November 2013 and January 2014 in Brockton.

The calls have been continuous, Beth Stone, Cruzs spokeswoman, said yesterday. Were hopeful this sketch will jog someones memory.

DNA results all came back positive for the same suspect from each of the rapes, the district attorney said.

The body of Mylett and skeletal remains of Schufeldt were discovered together behind 251 N. Quincy St. in Brockton. As part of the investigation, DNA was extracted from one of the women and, after analysis by the State Police Crime Lab, it was determined to be a match with the DNA from the three rape cases.

Cruz recently contacted Parabon NanoLabs in Virginia to conduct Snapshot DNA phenotyping. Parabon used the DNA sample to predict the suspects physical appearance and develop a computer-generated composite sketch. The technology uses the DNA to accurately predict eye, hair and skin color.

Peters said shes still haunted by the death of her then-50-year-old sister.

I still dont know how she was murdered, whether she suffered, she told the Herald. She had some issues but she was a wonderful person and I love her and miss her.

Peters said she never lost hope and only a month or two ago got a tattoo with the words RIP Linda etched on her left shoulder so that I have her with me every day.

She was living life the best she could. Sometimes she lived in her car, the sister added. She worried about me before she worried about herself.

Peters said her sister, who served in the Navy and had five children, turned to prostitution as a last resort to feed her drug addiction.

She did what she had to do to get by, the sister added. A lot of people think thats a horrible thing, but unless youve lived in that persons shoes, you have no way of knowing.

But when her sisters body was found six months after she went missing, Peters said she was devastated.

I was hoping shed be found alive.

The DA is asking anyone with tips to call state or Brockton police at 508-894-2584.

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Scientists rewrote the DNA of an entire species – Vox

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In just a few years, scientists will unveil a creature whose every letter of DNA was written by a human being. It will be a yeast cell with a fully designer genome, and biological capabilities seen nowhere else in nature.

Today, a global team of scientists has announced a major milestone in their decade-long quest to create a fully synthetic yeast genome. As described in the journal Science, the hundreds of scientists have completed work on six of the yeasts 16 chromosomes (the individual stands of DNA that make up a genome). Meanwhile, the remaining 10 chromosomes (plus one extra, not found in nature) have been designed and are awaiting production.

The synthetic yeast will be a huge advancement in bioengineering. It will be a proof of concept that scientists can design and implement genome-wide changes, tailoring microorganisms in major ways for further engineering and study. It means we may be able to create whole new species of microorganisms for industrial or scientific purposes.

No, this isnt playing God, the scientists behind the project say. In their view, rewriting the yeast genome is more like domestication. No one created a dog; they adapted a wolf, says Sarah Richardson, a synthetic biologist who is the lead author on one of the Science papers describing the project.

Right now, biologists have a lot of genetic engineering tools at their disposal. CRISPR/Cas9 allows biologists to neatly snip out one single gene and replace it with another. Recombinant DNA is how weve coaxed bacteria to create human insulin a treatment for diabetics. But those techniques are for tiny edits. This yeast project is a rewriting and reorganization of the whole genetic book.

The project, called Sc2.0 as in the 2.0 version of Saccharomyces cerevisiae, a.k.a. household yeast started 10 years ago. Now the end is in sight. In just a few more years, the researchers should be able to unite all 17 synthetic chromosomes in one cell.

Research efforts have developed synthetic bacteria genomes before. But yeast is vastly more complicated. The most commonly used bacteria in genetic engineering, Richardson explains, has about 4 million base pairs of DNA. (Base pairs you might remember from high school are the individual building blocks that make up DNA: adenine-thymine; cytosine-guanine. No shame if youve forgotten.) Yeast has around 12 million base pairs.

Building that all from scratch is an enormous task which is why the Science papers published today have hundreds of authors.

But why all the effort? This project has two main benefits.

1) It helps scientists understand the fundamentals of life.

If you know how a radio works, you should be able to take it apart and put it back together, Richardson says. Same goes for genetics.

Already, the team has gained a huge understanding of what yeast genes are necessary for keeping it alive and which are bloatware. And theyve learned a lot from trial and error: Small changes to the genetic code have made the difference between a cell that thrives and a cell that dies.

2) It paves the way for further genetically engineering yeast.

If you think of yeast as a factory, then its genome is the operating system. The engineered yeast will be a well-understood platform upon which to build extra functions, like generating biofuels or manufacturing pharmaceuticals.

Yeast is already extremely useful. Brewers use it convert sugar into alcohol in beer. Bakers use it to turn a mass of flour into pillowy, tender bread. If scientists can reengineer yeast from scratch, they can teach it a few more tricks.

We wanted to make changes that are very difficult to make without rebuilding it from the ground up, Richardson says.

The scientists have designed some new programs into the genome. One is called a scramble function. With a push of a button essentially, this is a simplification scientists will be able to instantly mutate their synthetic genome into a million new forms.

The analogy is if you had a million decks of cards, there would be one that would give you the best hand at gin rummy, there would be another that would give you the best hand at Texas Holdem, and so on, says Jef Boeke, an NYU biochemist and one of the leads of the Sc2.0 project.

And then they could look through those randomized yeast cells for ones that might be handy. Some could, for instance, produce higher concentrations of alcohol from sugar (which is useful in producing biofuel, or beverages). Others could be more adept at breaking down certain proteins.

Also, in the Sc2.0 design, the biologists have done some tidying up of the genome. Genes that do something similar often are not grouped together in one location like someone organized would do it, Joel Bader, a Johns Hopkins biomedical engineer who oversaw much of the project, explains.

1) Design the chromosomes on computers.

The scientists are editing an existing genome, rather than dreaming up a genome from scratch.

So they start with the text of a fully sequenced yeast chromosome on a computer, and make little tweaks. Most of the changes are to make the genomes more resistant to mutations. That way nature wont as easily erase any changes scientists engineer in the future.

The scientists also took out introns, filler regions of the DNA that dont code for anything at all. And they took special pains to mark genes that yeast need to survive. You have to be careful around them, Richardson says.

2) Make sure the designs can actually be built.

An architect can draw the most beautiful building her mind can imagine. But if an engineer says it cant be built, it cant be built.

A similar thing happens with DNA design. The chromosomes have to be assembled from tiny pieces of DNA, and they have to get glued together at very specific points. In your design, you want to plan ahead for where those junctions are, she says. Or certain snippets of DNA just wont stick together during assembly.

3) Manufacture the DNA

Each one of the 16 yeast chromosomes can contain 100,000 base pairs of DNA. But there is no DNA printer that can perfectly spit out that many in a stable chain.

So the scientists have to manufacture the DNA in small chunks 60 or 100 base pairs. Every letter has to be synthesized and then checked against our design to make sure we dont have any mistakes, she says.

Lab workers can then assemble around 10 or so of these chunks into 600-base-pair pieces of DNA. Then they glue those larger pieces together and so on until they have large 10,000 base-pair chains.

4) Replace natural chromosomes with synthetic ones

In a painstaking process that provides a critical safety check, the new synthetic chromosome is inserted in pieces rather than all at once. If any piece kills the cell, they know theres a problem in that section of the code.

5) Combine all the synthetic chromosomes into one yeast cell.

The previous four steps are what it takes just to produce one chromosome. Yeast has 16 total.

For a time, each of those 16 chromosomes will live in a separate yeast strain. (That is, one yeast cell will have a synthetic version of chromosome 1, with the rest being natural. Another will have a synthetic version of only chromosome 2 and so on).

In another painstaking process, the scientists will have to carefully breed the yeasts with each other so that all 16 synthetic chromosomes (plus one extra, completely new chromosome) all end up in the same cell together.

I asked several of the scientists if, when this is all done, they will have created a new species altogether. Thats up for debate, they say. The yeast 2.0 will look like and function like a normal yeast cell. But theres a chance it wont be able to mate with a naturally occurring yeast cell (reproductive compatibility is a traditional definition of a species).

Overall, the scientists stress the wrong conclusion is that theyre creating life.

Were not starting with a bunch of inanimate chemicals, mixing chemicals, and having life pop out, Boeke says. We start with a living cell, and we replace the DNA that is inside.

But theyre doing something thats just as intriguing. No, theyre not creating life. Theyre transfiguring it.

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Scientists rewrote the DNA of an entire species - Vox

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A Splash of River Water Now Reveals the DNA of All Its Creatures – Yale Environment 360

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Technology

Quick and inexpensive DNA sampling of a river, stream, or lake can now divulge what fish or other animals live there. This rapidly growing environmental DNA, or eDNA, technology is proving to be a game-changing conservation tool.

By JimRobbins March9,2017

A U.S. Forest Service technician heads out to the Blackfoot River in western Montana and pumps water through a small filter, five liters every time she stops. In a single day, she gathers dozens of samples, bringing back to the lab each of the fine mesh filters that the river water passed through.

U.S. Forest ServicebiologistMichaelSchwartz gathers water to be sampled for eDNAfrom Rattlesnake Creek in Montana. Kellie Carim/U.S. Forest Service

The filters contain DNA for species whether brook trout, stone flies, wood ducks, or river otters that have swum in that stream in the last day or two, up to a kilometer above the sample site. Every insect, fish, or animal continually sloughs off bits of its DNA in its feces or from its skin and just a single cell of the invisible, free-floating genetic material can tell researchers which species are present in a river or other water body.

Environmental DNA, or eDNA, is at the center of a brand new kind of fish and wildlife biology, and it is such a powerful tool that its transforming the field. eDNA was first used to detect invasive bullfrogs in France a decade ago. It was used in North America for the first time in 2009 and 2010 to detect invasive Asian carp in and around the Great Lakes. Since then, its use has grown exponentially, primarily in marine and freshwater environments.

You cant manage a species if you dont know where it is even 80-pound Asian carp, because you cant see them underwater, said Cornell University biologist David Lodge, who participated in the Asian carp study. So eDNA is particularly powerful in aquatic systems.

The DNA is so easy and inexpensive to gather and assay $50 to $150 to test each sample that the U.S. Forest Service has launched a project to collect DNA from all rivers and streams across the western U.S. to create an Aquatic Environmental DNA Atlas.

Environmental DNA is turning out to be an amazing tool in allowing us to detect the distribution of species, a distribution that has been invisible to us in the past, said Michael K. Schwartz, director of the Forest Services National Genomics Center for Wildlife and Fish Conservation in Missoula, Montana. It has remarkable efficiency.

Experts say use of the technology is in its early stages and that as it evolves it will become even more powerful, providing an even deeper look into the genetics of aquatic ecosystems, including ocean environments.

The next step in the evolution of the technology would be to estimate the abundance of a species in a river or other water body based on the quantity of DNA found in samples. That is going to continue to be a research frontier, said Lodge.

Scientists say that eDNA can be used not only to detect the presence of invasive species in a river, lake, or ocean, but also to help reintroduce native species, to study genetic diversity among fish stocks, and to better manage commercial and endangered species.

Until now, the primary way to conduct distribution studies was to physically see, count, and describe species, a time-consuming process that is expensive and often hit-or-miss. That leaves huge gaps in the knowledge of where species are, which often confounds species management.

One of the best examples of the transformative nature of eDNA is in assessing the distribution of bull trout across its entire range. Bull trout are a threatened species in the U.S. Northwest, and their habitat is declining because of deteriorating water quality and warming water temperatures. Cold water is essential to their spawning.

By knowing where the fish live, managers can direct funding for protecting and restoring riparian habitat. Until recently, though, the only way to find and count bull trout was to do an electro-shocking census. That means a biologist would take equipment to the river to shock fish in the water and count them as they float, stunned, to the surface. That technique is time-consuming, not always permitted, and can survey only a fairly small area with each census.

With eDNA, a single sample can tell which species have been in a river a kilometer upstream from the sample site within the last 24 to 40 hours thats how long the DNA lasts in the water. Tests with caged fish have shown that just three fish in a river can give a 100 percent detection rate, and one fish 85 percent.

The range-wide bull trout study, conducted by the Forest Service, first looked at the temperature of streams that fit bull trout requirements. Then eDNA samples were taken to detect the trouts presence in those reaches. Weve been able to detect bull trout in streams in a matter of days that have taken some of our colleagues years to confirm, says Schwartz. And there were surprises. In a couple of locations where bull trout were not supposed to be, we have multiple detections throughout the drainage, Schwartz says.

Researchers have used eDNA testing to assess populations of bull trout, a threatened species in the U.S. Northwest. Wade Fredenberg/USFWS

eDNA technology is being used in other parts of the world as well.

In the Dinaric Alps, a mountain range that runs through Croatia and Slovenia, theres a curious creature called the olm a blind, flesh-colored salamander also known as a baby dragon that lives its entire life underground. They are a symbol of our country, but are still as mysterious as they were a hundred years ago, Peter Trontelj of the Department of Biology at the Ljubljana Faculty of Biotechnology told an English-language news site. The only way to know where they lived was to dive into a cave and find them or to see them washed out of a cave after a heavy rain. But after testing for eDNA, biologists confirmed their presence in 10 caves where they were known to exist, and discovered new populations in five others.

In Japan last year, scientists found that eDNA sampling gave them a rough snapshot of the distribution and biomass of fish species in a bay in the Sea of Japan.

eDNA assessment has also become a new, powerful weapon in the fight against invasive species.

The first published study of the use of eDNA for conservation purposes was in 2008 in France. The American bullfrog has become an invasive species in France and around the world; not only does it displace native species, but the bullfrog also carries the virulent amphibian killer fungus, chytrid. Early detection of bullfrogs can make a big difference in the ease of eradicating them, but they are hard to find. Calling the frogs only locates a small portion of the population and even then the census needs to be done at night and in certain weather conditions. With eDNA, French researchers were able to easily confirm the bullfrogs presence in some ponds and target those for removal.

The identification of fugitive DNA is also playing a role in the detection and eradication of invasive fish, a growing problem. Asian carp, a voracious plankton eater, would pose a huge threat to the ecology of the Great Lakes if they become established there, since they eat so much plankton they starve young fish of other species. While a few have been detected, biologists are monitoring rivers and canals that feed the lakes for early signs of more invaders.

In the western U.S., one target of eDNA searches has been brook trout, an interloper from the East that outcompetes native species. In one eradication scenario, managers would capture native fish and then use poison to kill the brook trout, so that native species could be re-introduced. If biologists find brook trout DNA after poisoning a river, they could go back in and electrofish to see where the stragglers may be hiding.

Sometimes they have detected one or two or three fish finding refuge in a side channel, said Schwartz. In one case they found a dead brook trout under a rock that didnt flush out of the system.

Thats one of the drawbacks of the technology theres no way to tell if the DNA of an invasive species is dead or alive. A great deal of time and effort could be spent trying to find an exotic carp, for example, that was already dead.

The ease and low cost of collecting samples has enabled widespread use of the powerful technique and eDNA can be gathered by just about anyone. It would be prohibitive to test all of New York states 7,600 lakes and 70,000 miles of rivers and streams for invasive species. So researchers at Cornell University send detection kits to schools across New York as a citizen science project. Students gather water samples as part of their science class and ship the filters to the university. When the results are returned, the students enter them in a database.

Any group of students can collect samples in lakes, rivers, and ponds, said Donna Cassidy-Hanley, a senior research associate at the Cornell University College of Veterinary Medicine. Once the data is plotted, the people doing the eradication work can see where the species has spread.

Students recently found DNA from the round goby, an aggressive invasive fish, and confirmed its presence in Oneida Lake in the Finger Lakes, where it was not known to exist. It sets the stage for corrective action, Cassidy-Hanley said.

As new techniques evolve, a single water sample will be sufficient to detect which communities of organisms exist in a waterway or in the ocean. In the future, write Phillip Francis Thomsen and Eske Willerslev, two Danish experts from the Center for GeoGenetics at the Natural History Museum of Denmark, we expect the eDNA approaches to move from single-marker analysis of species or communities to meta-genomic surveys of entire ecosystems to predict spatial and temporal biodiversity. That would greatly enhance conservation efforts.

One of the problems facing conservation biology these days is that not all populations within a species have the same DNA. Some populations of bull trout might be better adapted to surviving in warmer water, for example, or even adapted to specific drainages. If the DNA for those adaptations are known and in most cases they arent yet then finding certain specially adapted populations to be relocated or protected will be a lot quicker and easier with eDNA.

This technique will help solve a lot of the problems of conservation across broad scales, said Schwartz.

Jim Robbins is a veteran journalist based in Helena, Montana. He has written for the New York Times, Conde Nast Traveler, and numerous other publications.His latest book,The Wonder of Birds: What they Tell Us about the World, Ourselves and a Better Future, is due out in May. More about Jim Robbins

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DNA reveals what Neanderthals ate and how they self-medicated – CBS News

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In this file photo, a girl goes nose-to-nose with a Neanderthal statue at a museum in Germany.

Neanderthal Museum (Mettmann, Germany)

What exactly did Neanderthals eat to survive?

The answer varies wildly depending on where they lived, and a new study published Wednesday in the journal Nature reveals vivid new details about the dietary habits of our distant, prehistoric cousins. It also found evidence that Neanderthals figured out how to medicate their illnesses and injuries with substances found in nature.

An international team of researchers sequenced the DNA from hardened plaque on the teeth of five Neanderthal specimens from three different sites across Europe and analyzed the results to try to unravel long-running mysteries about Neanderthals diet and health. The five Neanderthals included two individuals from El Sidrn cave in Spain, two found in the Spy cave in Belgium, and one individual from Breuil Grotta in Italy.

Their findings are illuminating, and demonstrate dramatic geographic differences in the Neanderthal diet.

For instance, the Neanderthals who lived in what is now Belgium apparently ate plenty of meat, including woolly rhinoceros and wild sheep.

However, the Neanderthals from El Sidrn, Spain, showed zero signs of meat consumption; instead they got nourishment from foods like pine nuts, moss and mushrooms gathered from the forest.

The upper jaw of a Neanderthal from El Sidron, Spain. A dental calculus (plaque) deposit is visible on the rear molar at right. DNA analysis reveals this individual was eating poplar, a source of aspirin, and had also consumed moulded vegetation including Penicillium fungus, source of a natural antibiotic.

Paleoanthropology Group MNCN-CSIC

The analysis also peeled back the curtain on how Neanderthals coped with sickness.

For instance, one of the Neanderthals from Spain appeared to have a dental abscess and stomach bug and was self-medicating with poplar, a natural painkiller containing salicylic acid, the same active ingredient in the aspirin you may have popped last week. The individual had also consumed the antibiotic-producing moldPenicillium tens of thousands of years before Dr. Alexander Fleming used a strain of Penicilliumto develop the first antibiotic, revolutionizing modern medicine.

The study adds another layer to Neanderthal history, which to this day has significant holes that confound scientists.

Neanderthal diet remains a topic of considerable debate, with limited data on the specific animals and plants directly consumed or the potential effects on Neanderthal health and disease, the researchers wrote.

Neanderthals are humans closest known, extinct hominin relatives. Theyco-existed and even interbred with ourmodern human ancestors in the Late Pleistocene age, then disappeared from Europe around 40,000 years ago, although extinction patterns beyond Europe across Eurasia are still ambiguous.

Working in the Tunnel of Bones cave, in El Sidron, Spain, where 12 Neanderthal specimens dating around 49,000 years ago have been recovered.

Paleoanthropology Group MNCN-CSIC; Photo by Antonio Rosas

2017 CBS Interactive Inc. All Rights Reserved.

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What Can You Learn From Your Own Genome? Science Writer Carl … – Scope (blog)

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I was in high school when the human genome made it to front pages of newspapers around the world. Unlocking our genetic code had taken $2.7 billion and close to 15 years to finish. That was 2001.

Today, it costs only about $1,000 to sequence a whole genome a dollar figure low enough for personal genome sequencing to make sense. But what might it mean to get your own genome sequenced?

That was the question Carl Zimmer, bestselling author and science columnist for the New York Timesand other publications, explored at a symposium organized by the Stanford Center for Computational, Evolutionary Human Genomics this week.

Zimmers investigation into his genome began when a geneticist asked him if hed like his genome sequenced. I was stunned that the question could be asked, Zimmer said. It was like saying Would you like to go to Jupiter?

First, Zimmer said he signed up with the company Illumina to have his genome read. Days later, his clinical report came in with nothing to say about the more than 1,500 genes they had examined. The most detailed response was: Your muscle fibers are built for power, Zimmer said.

A boring genome is a good genome, Zimmer said. If theyd said, youve got Huntingtons, it wouldve been bad for me, but a great story.

Illuminas analysis reflected a tiny sampling of the information the genome contained, Zimmer said. Knowing that wasnt how scientists study genomes, Zimmer got his hands on the raw data the full 60 gigabytes of his blueprint DNA.

He said he found more than 20 scientists who volunteered to peer into what he calls the Zimmerome. Among the many things Zimmer discovered was that he has a mutation that puts him at risk for high cholesterol and another that makes it difficult to break down drugs. Zimmer said he learned he shares 1.4 million DNA variations with two random individuals from China and Nigeria. In addition, he found out that 2 percent of his genes are from Neanderthals and he has a surprising Italian ancestry hes still trying to trace all of which he chronicled in a series that appeared on STATcalled the Game of Genomes.

Zimmer said the experience taught him that although genome sequencing is now easy to access, its still quite difficult to extract meaningful information from our genes. The scientific community is still very far from being able to decipher the function of every single element in our genome, he said.

He found that currently, genome sequencing can help identify a variety of genetic disorders. But it is less clear what a healthy individual might gain from having his or her genome read.

Theres a disconnect between the morning-in-the-forest kind of hoopla about what you can find about your genome and what [scientists] can actually deliver to people who are healthy, Zimmer said. Its a fundamentally hard problem.

As Zimmer wrote in the Game of Genomes, This genomic noodling is great fun, although it may not mean that much to my own existence. Yet.

Previously:Here be dragons: Hard-to-sequence sections of genome remainandA leader in the Human Genome Project shares tale of personalized medicine, from 1980 until today Photo by Saul Bromberger and Sandra Hoover Photography

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Powell gift supports fledgling UO Center for Genome Function … – AroundtheO

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Longtime University of Oregon donors Sharon and Lloyd Powell a 1955 UO graduate have made a significant gift to the Center for Genome Function, a UO initiative led by an emerging team of UO biologists.

All of us in the labs are so grateful to Sharon and Lloyd for their investment in genome science at the UO, said lead researcher Eric Selker. Their gift will help us continue to claim a leadership position at the forefront of genetic research.

The centers innovative research seeks to understand the underlying processes of human genetics. Team members are helping fuel discoveries in the areas of cancer, neurological disorders, aging, infertility, birth defects, the side effects of drugs and environmental factors, and others.

The Powells gift provides essential support for the center, according to Selker, and is available for such expenses as lab startup costs, instrumentation and graduate student support.

The Powells have given extensively to the business school and intercollegiate athletics Powell Plaza outside Hayward Field is named for the family and Lloyd Powell has received the UOs Pioneer Award and Presidential Medal. He also served the UO Foundation as a trustee.

But it was the Powells 50-year relationship with UO fundraiser Herb Yamanaka, combined with Sharon Powells interest in science, which led to the gift.

Sharon wrote to me out of the blue, Yamanaka recalled. She said, Wed love to help you with any research you are doing around the human genome. It was a nice surprise. What a wonderful email to receive from two most generous Ducks.

Yamanaka has known Lloyd Powell dating back to Powells college days as a football player under UO coach Len Casanova. And theyve maintained that friendship as three generations of Powells attended the UO. Sons Peter and Tom, daughter-in-law Maryanne (Molly), and grandsons Brendan, Lane and Tate have grown into an extended family of Powell Ducks.

The Center for Genome Function is one focus of the UOs Clusters of Excellence hiring initiative. The clusters support UO President Michael Schills goal to hire an additional 80 to 100 tenure-track faculty members over the next five years to boost UO academics and research.

The Center for Genome Function added one new tenure-track faculty member in the past year, with plans to add two more. Jeffrey McKnight, formerly a Leukemia and Lymphoma Society fellow at the Fred Hutchinson Cancer Research Center in Seattle, joined current faculty members Selker and Diana Libuda.

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Scientists Closer To Creating A Fully Synthetic Yeast Genome – NPR

Posted: at 2:46 am

Colored scanning electron micrograph of baker's yeast, conventionally grown in the lab. So far, researchers have been able to synthesize six of the yeast's 16 chromosomes from scratch, and think they may be able to complete all 16 by 2018.

Scientists have taken another important step toward creating different types of synthetic life in the laboratory.

An international research consortium reports Thursday that it has figured out an efficient method for synthesizing a substantial part of the genetic code of yeast.

"We are absolutely thrilled," says Jef Boeke, a geneticist at New York University School of Medicine, who is leading the project. "This is a significant step toward our goal."

The milestone is the latest development in the intensifying quest to create living, complex organisms from scratch in the lab. This group previously reported it had completely synthesized one of yeast's 16 chromosomes, which are the molecular structures that carry all of an organism's genes.

Now, in a series of seven papers published in the journal Science, the group reports it has completed five more, and is on track to having a fully synthetic yeast genome finished by the end of the year.

"We're chugging along toward that goal," Boeke says.

The advance is being praised by many biologists, geneticists and others as an important advance. And even bioethicists and environmentalists who are worried about possible ethical and environmental implications praised the project for its careful approach.

But the increasing ability to manipulate the basic building blocks of life is stirring concerns about someday using this technology to create synthetic genomes of other organisms, especially humans.

The yeast project is significant because it provides insights into how human cells work, Boeke says.

Geneticist Jef Boeke of New York University studies DNA sequences from baker's yeast. NYU Langone Medical Center/Screenshot by NPR hide caption

Geneticist Jef Boeke of New York University studies DNA sequences from baker's yeast.

Though single-celled, yeast are among the complicated group of organisms called eukaryotes. That means, like humans, yeast contain organelles, and package their DNA inside a nucleus.

"They are a great model for understanding the basic wiring of higher cells," Boeke says.

The project enlisted labs around the world to painstakingly assemble yeast chromosomes from the four basic chemical building blocks of DNA adenine, cytosine, guanine and thymine.

"We're essentially swapping out the code, if you will, in a living yeast cell with sort of a 21st Century version of the operating system," he says.

The team has shown that all six of the chromosomes assembled so far function inside yeast cells, even when several are simultaneously inserted into the same cell. That's true even when significant portions of individual chromosomes have been rewritten.

"We can kind of torture the genome of the yeast in some pretty extreme ways and the yeast sort of shrugs its shoulders and doesn't seem to care that much about it," Boeke says.

That bodes well for one of the goals of the project: creating synthetic yeast that could be used like tiny factories to produce more than bread, beer and wine. The scientists hope to use yeast to produce new drugs to treat diseases as well as for other purposes, possibly including manufacturing new forms of fuel.

"We're also developing some really practical tools for improving the yeast so that it can do a much better job at making useful products for us," Boeke says.

Others experts agree.

"This is really going to allow us to understand how to design cells from the bottom up that can be reprogrammed for many applications," says Daniel Gibson, vice president of DNA technologies at Synthetic Genomics, of La Jolla, Calif., who wrote an article accompanying the new research

Another goal is to learn new things about basic biology, Boeke says.

"A great quote from Richard Feynman of the Feynman lectures on physics is: 'What I cannot create, I cannot understand,' " says Boeke. "And that's kind of a motto for our field, I guess you would say."

The techniques the scientists are developing could also be used to synthesize from scratch the genomes of other much more complex organisms, Boeke says. For example, the group has developed an efficient way to identify and fix errors in the genomes they're working on, similar to the way computer programmers debug computer programs.

"This is absolutely setting the stage for being able to do these kinds of manipulations on a much larger scale in much larger genomes, such as those of plants and animals and even of the human genome," Boeke says.

That includes synthesizing the whole human genome. Boeke is already working on that with George Church, a prominent Harvard University geneticist.

"This is a whole new era where we're moving beyond little edits on single genes to being able to write whatever we want throughout the genome," Church says. "The goal is to be able to change it as radically as our understanding permits."

That prospect worries some biologists, environmentalists, bioethicists and others. The concern is that synthetic microbes, plants or animals might damage the environment in unpredictable ways if they're released either accidentally or on purpose.

"You can think of it of like introducing an invasive species into a different environment," says Todd Kuiken, a senior research scholar at North Carolina State University's Genetic Engineering and Society Center. "It will have some type of impact to the system."

Others fear terrorists could use this technology to brew new biological weapons.

Boeke says the yeast project is being done with careful safeguards and tight ethical scrutiny. But he acknowledges that the possibility of creating a synthetic human genome stirs alarm.

"The biggest concern, of course, is people are worried that our goal is to make a synthetic human a human powered by a synthetic genome," he says. "And this is why we are very adamant that our applications are in engineering of cells that could be used as therapies for humans. Don't make an organism from it."

But others think society is nowhere near ready for the manufacturing of a synthetic human genome.

"Having that kind of knowledge and that kind of power over the human genome in a world as riven by injustice as the world in which we currently live would not be a good way to go would not be a justifiable direction," says Laurie Zoloth, a bioethicist at Northwestern University. But she praises the yeast project.

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Scientists reveal the secret of naked mole rat longevity – Medical Xpress

Posted: at 2:46 am

March 8, 2017

A group of Russian and German biologists and mathematicians led by profs. Victor Sadovnichii and Vladimir Skulachev (Moscow State University) and prof. Thomas Hildebrandt (Leibniz Institute, Berlin) have published a study in Physiological Reviews in support of a breakthrough hypothesis explaining the exceptional longevity of the naked mole rat (Heterocephalus glaber), an African rodent. According to the hypothesis, these animals had evolved a slow process of individual development resulting in a dramatic increase in the period of youth and a decelerated aging process.

A similar process has begun in humans, as well. Analysis of data on human longevity and the reproduction period indicates that humans have already slowed down the pace of our "master biological clock," and this deceleration has progressed throughout human history, resulting in increased lifespan and prolongation of youth.

Such regulation of the rate of aging means that the aging process (in both naked mole-rats and humans) is genetically programmed and cannot be explained by simple accumulation of random damage with age. This is a very important finding, because modern science is already capable of switching off some biological programsfor example, the process of cell suicide, apoptosis. Prof. Skulachev's research group is now trying to apply the same method to retard the program of aging using specially designed mitochondrially targeted antioxidants.

Victor Sadovnichii, rector of Moscow State University, says, "Aging studies are based on different statistical datasets. Traditionally it is one of the most mathematics-oriented areas of biology. In this particular case, statistical analysis demonstrated a very important fact: Human aging is already decelerating."

Vladimir Skulachev, head of Belozersky institute of Moscow State University, says, "I think our work proves that the biological evolution of two highly social species of mammals (humans and naked mole rats) resulted in deceleration of the aging program and prolongation of youth. So the aging is, indeed, a program, and it has already slowed down through natural selection. But we humans no longer rely on the extremely slow method of natural evolution. We use technical and scientific progress to achieve our goals. It is exactly the time when we must apply this method against aging."

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8 Principles for Leaders to Make the Most of the Exponential Age (Part 2) – Singularity Hub

Posted: at 2:46 am

How do top CEOs lead during this exponential age?

How do you manage the explosion of information and onslaught of increasing competition?

How do you sort through the abundance of opportunity and avoid getting burned out?

How do you maintain agility during todays tsunami of change?

Todays post is the second of three parts deriving insights and advice from three incredible, forward-thinking leaders: Beth Comstock, Sue Siegel, and Arianna Huffington. Todays post will focus on Sue Siegels advice.

Sue, Beth and Arianna addressed my 2017 Abundance 360 CEO Summit in a module called Exponential Leadership.(Be sure to read part one for eight excellent insights from Beth Comstock.)

Lets dive in...

Sue Siegel is the CEO of GE Ventures. She heads GE's growth and innovation business comprised of GE Ventures, GE Licensing and New Business Creation (NBC).

GE Ventures is the venture capital arm of General Electric that invests hundreds of millions of dollars in and partners with the entrepreneurial ecosystem across healthcare, energy, software, advanced manufacturing and lighting, and starts and grows companies via its New Business Creation unit.

Previously, Sue was the president of Affymetrix, and shes had 30 years of combined commercial experience. She's also on my board at Human Longevity Inc., which I'm very proud of, and GE is an investor in HLI.

1. Always be an ambassador for your team, innovation happens everywhere: As a leader, you must always be an ambassador for your team. Not only is it important for you to always reflect your companys values, but its also important that you constantly search for opportunities, tools, people, and ideas that would be valuable to your team. In other words, if you go to an event or conference, always be on the lookout for great opportunities for your team.

2. Issues within the team should be resolved within the team: Given the pace of change and complexity of leading a high-performance team, there is often a lot of stress and confusion with implementing team decisions. This can lead to gossiping or complaining outside of the group. Sue notes that your colleagues outside the team dont want to sit there and actually help you; instead, they just want to hear the gossip and spread it. This can be detrimental to productivity and team morale. Instead, don't start rumors, dont spread them, and if you have an issue, take it up immediately within the team and solve it there.

3. Once a decision is made, it is supported. Period. This is really important. Once a decision is made in a meeting, there must be no second-guessing of that decision after the fact. Sue explains, When we walk out of that room, and you've had all the chance to actually defend your position to make the decision, its time to start executing. That's it. If you need to change a strategy, use data from implementation to support your argument and bring it up in the next decision-making meeting.

4. Proactive problem management go directly to the source: As complexity increases, so too does the potential for conflict or confusion. As an exponential leader, you must be proactive in managing this. Sues strategy is simple and clear: Go to the source, directly to the source. Dont complain to managers or others before youve gone to the person first to resolve the conflict.

5. Assume noble intent: I love this one. Its important as a leader to trust your team and assume that they have the teams best interests in mind. Its remarkable what you are able to achieve when you assume noble intent. Ultimately, this goes back to hiring as well. You must ensure that you are hiring team players who are inspired by the companys mission and purpose.

6. Ambidextrous leadership (investor + operator thinking): Sue believes there is enormous value in pairing venture capital investor-type thinking with operator-type thinking. Being able to step back and analyze opportunities from an investors perspective can be a valuable tool in helping entrepreneurs and managers alike make better decisions. And for investors, thinking like an operator is so important to understand the businesses they are investing in and, more than that, to best leverage your resources to help the companies.

7. You cant delegate culture: This is absolutely critical for exponential leaders. Culture can make or break a company, and therefore it a) must be very high on a leaders list of priorities and b) must come from the top. Leaders cant delegate culture. Sue goes on, Leaders are the culture bearers, the torchkeepers of culture in our companies. They might have change agents, or those that actually help them amplify their culture, but the leader cannot delegate culture. This is a truth that a lot of us forget because we're so busy. Employees and teams really want to see it from their leaders. They want to hear the talk, they want to watch them walk the talk, all the time. Interestingly, while leaders cannot delegate culture creation, they can delegate culture keeping.

8. Purpose and passion: Purpose and passion drive people to do what they do. Sue explains, Our people are very motivated by a purpose. And you have to go recruit for that kind of person. Purpose fuels passion. Passion creates energy to deliver. It empowers people to believe they can. Purpose and passion actually help people unlock the potential they never knew they had. It is up to leaders to define the purpose and build a team around it.

Change is coming. Exponential leaders must prepare for it and embrace it.

Youve got to resolve conflict proactively, expect the best from your team, and fuel their energy to solve problems and create extraordinary results.

Image Credit: Shutterstock

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