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A powerful tool that lets scientists edit our DNA was discovered mostly by accident

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You may have seen the headlines about CRISPR/Cas9, a powerful genetic technique that lets scientists "edit" genes.

It's been hailed as a miracle method that will cure disease, and also as the nefarious technology that will bring about the era of "designer babies."

CRISPR, which stands for "clustered regularly interspaced short palindromic repeats," is a defense mechanism that evolved in bacteria, but has been adapted for use in many other organisms, including humans. It functions like a genetic "find-and-replace" algorithm, letting scientists go in and edit genes inside living cells.

But how did the technique come about? Here's a timeline of some of the main developments:

BI Graphic_CRISPR Timeline (1)

NEXT UP: Scientists may soon be able to 'cut and paste' DNA to cure deadly diseases and design perfect babies

SEE ALSO: CRISPR, the gene-editing tech that's making headlines, explained in one graphic

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Scientists are looking at dogs DNA to study how they became ‘man’s best friend’

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surf city dogs

For many people, dogs are like family members. But it hasn't always been that way.

Before they were cuddly pooches, they were wild animals. Dogs are thought to have evolved from wolves to become the domestic animals they are today.

How, when, where, and why that happened has long puzzled scientists. But one research team says they have some clues, which they report in a paper published Tuesday in the journal Cell Research.

These scientists describe the scenario of Fido's origins something like this: Some 33,000 years ago, a population of wolves living in Southeast Asia diverged into two separate lineages. The domestic dog appeared along one of those lineages.

"Nobody knows exactly what happened, but the favorite theory for many in the field is that this domestication was a collaboration between humans and wolves," study co-author and evolutionary geneticist Peter Savolainen tells The Christian Science Monitor in an interview.

"It might have started with the wolves coming closer to humans, living from the debris of food leftovers around human camps," he says. "And then those wolves that were least aggressive or that were best accepted by humans to come near, they got the best food and therefore a selective advantage compared to other wolves."

Through this process, those friendly wolves would have become our furry friends over time.

Around 15,000 years ago, some of these dogs migrated across continents into the Middle East and Africa, reaching Europe about 10,000 years ago. 

Along the way, dogs also occasionally cross-bred back with wolves, leaving a small bit of DNA evidence in some modern dogs' genomes. 

"It's a little bit like the origins of humans," Dr. Savolainen says. "We all came out of Africa and coming to Eurasia, we mixed with Neanderthals and the Denisovans a little bit, giving a few percent of the whole diversity," he explains of our own migrations and genetic diversity.

Many questions swirl around the origins of the beloved domestic dog, but there is little archeological evidence to reveal answers. So scientists look elsewhere for clues. For this study, they dug into the genomes of dogs and wolves alive today. The researchers sequenced the entire genome of these animals, looking for evolutionary markers. 

In the canine DNA, the scientists found evidence that the ancestral population of dogs is most likely from Southeast Asia, and that subsequent populations spread across the world. Mutations in the genome helped them map the dogs' origins. 

The scientists also found clues into the way wolves adapted to become dogs. 

Some genes had to do with behavior. Savolainen says that change made sense, because the aggression and hostility of wild wolves wouldn't have made them successful as domestic animals. 

Other genes probably evolved later to help the animals better eat human food. "We see that dogs are much better than wolves to digest the starch-rich foods, like rice or wheat," Savolainen says. Wolves are carnivores, eating only meat. But as humans became agriculturalists some 12,000 years ago and began eating starches, dogs living with them would've needed to survive on that different diet too.

husky dog sled howl

Savolainen says the first dogs may have appeared as early as 33,000 years ago or as late as 15,000 years ago. The genetic clues the scientists found suggest a divergence in the wolf population at 33,000 years ago, but, "was it also the origin of the dogs then or possibly later?" says Savolainen.

That split could represent the beginning of dog domestication, or it could just be the beginning of the lineage that yielded domestic dogs later. Perhaps the last step in dog domestication was the migrations described in this paper, Savolainen suggests. 

Domestication could have been happening that whole time. "It might have been a very gradual thing that wolves got more and more used to humans and we got more and more, tighter and tighter dogs," Savolainen says. 

When dogs spread out of Asia, they might have been stretching their legs across a newly revealed land mass after the last Ice Age, the scientists suggest in their paper. But it's likely they were following their new human friends, says Savolainen.

The question of where dogs were domesticated has been the subject of much research. Previous studies suggested canine domestication happened in regions such as the Middle East, Europe or Central Asia

"I think the first thing you need to answer is where it happened," geneticist Adam Boyko, who authored a study published in October naming Central Asia as the location, told the Monitor in an interview then.

"Narrowing it down to where is the first step in coming up with a comprehensive theory of what was going on," Dr. Boyko said.

Boyko isn't concerned that this new research seems to falsify his own. "We're both seeing a clear signature of more diversity in Asian dogs than we're seeing outside of Asia," a sign indicating an ancestral population, he tells the Monitor in a recent interview.

Both Boyko and Savolainen say the conflict lies in the data. Each claims the other team did not sample enough dogs from their own highlighted region. 

"The reality is, sampling dogs is hard," Boyko says. He adds that as more research is done, more data sets allow for more discussion among the scientists. "As geneticists, we love to get new data sets like this to play with. Maybe at some point we'll all be on the same page," he says.

Why are scientists fascinated with the story of dog domestication?

"People love their dogs and so they want to know what the story of dogs is," Boyko says. "But also understanding the story of dogs is sort of understanding the story of us."

dogs

Dogs were the first animals domesticated by humans. 

"When we started to domesticate animals and plants, that was the most important step in human history," Savolainen asserts. "That's when we went from hunter-gathers into farmers and that was what built today's civilization. It's a key step in history."

SEE ALSO: Humans created a new top predator that's taking over the Northeast — and that's just one example of the evolution we're driving

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NOW WATCH: We visited a one-of-a-kind lab in South Korea that will clone your dog for $100,000

The biggest scientific breakthrough of the year will reshape life as we know it

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dna genome GettyImages 1951595

This wasn't the year the most powerful gene editing technology we've ever known — CRISPR — was discovered, but it was the year the world started to see just how much this tool would transform life as we know it.

For that reason, the journal Science named CRISPR its "2015 Breakthrough of the Year."

As John Travis of Science explains, CRISPR has appeared as a runner up for the top breakthrough before, in combination with other tools that scientists use to manipulate and edit the building blocks of life.

"[T]his is the year it broke away from the pack, revealing its true power in a series of spectacular achievements," Travis writes.

As Jennifer Doudna, the Berkeley biologist who was one of the pioneers of using CRISPR, explained to us earlier this year, the tool basically allows us to find specific sections of our genetic code and either cut them out or even more dramatically, replace them.

"We're basically now able to have a molecular scalpel for genomes," she said.

There are hundreds of potential uses for this, ranging from creating genetically edited animals— cows that don't grow horns or super-muscled dogs— to creating algae that can function as a sustainable energy source to perhaps even changing our own DNA to become disease resistant or super strong.

But there were two things done with CRISPR this year that gave it that breakthrough of the year status: the editing of (nonviable) human embryos and the creation of a "gene drive."

When researchers at Sun Yat-sen University announced they had made changes to the DNA of human embryos it caused waves around the world. Even though they were doing something that researchers knew was possible with gene editing tools and even though there were a lot of errors, they'd still actually changed the genes of humans in ways that would have been passed on if those embryos were implanted and brought to term.

That would be the equivalent of making designer babies; it would be taking an active hand in human evolution.

To demonstrate the ability of CRISPR to create what's known as a "gene drive," researchers at the University of California engineered a gene that would forcibly spread throughout a population. In a study published in Science, they showed that within two generations, their mutation had found its way into 97% of a population of fruit flies.

The ability to force a gene to spread through a population could be a way to eliminate mosquitoes that spread malaria, for example. But releasing something into the wild that has the ability to wipe out a population also frightens researchers, as it might lead to unexpected side effects that can't be taken back.

Both of these developments show the control that CRISPR gives us over life's building blocks. And as Travis explains, there's so much more this tool is helping scientists do. By using it to turn genes on and off, researchers are figuring out how those genes interact and what effects they have. It's a tool that's helping unlock the secrets of cancer. Other scientists are creating pigs that grow organs that can be transplanted into humans.

As Dustin Rubinstein, the head of a lab working with CRISPR and other genetic engineering tools at the University of Wisconsin–Madison, told us earlier this year, "it's really going to just empower us to have more creativity ... to get into the sandbox and have more control over what you build."

"You're only limited by your imagination."

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A controversial tool that lets scientists rewrite DNA just achieved a major milestone

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dna cut and paste crispr

This year was undoubtedly the one in which CRISPR took over the minds and hearts of science lovers everywhere. 

On Thursday, Science Magazine announced the gene-editing technique won its Breakthrough of the Year Award, beating out other events such as the discovery of Homo Naledi, a previously unknown ancestor to humans and the Pluto flyby, which allowed scientists to get an up-close view of Pluto and its moons for the first time ever.

Science's John Travis explained that although CRISPR has been a runner-up for the award in past years, "this is the year it broke away from the pack, revealing its true power in a series of spectacular achievements."

CRISPR-Cas9 is a tool that allows scientists to swap a particular, potentially faulty gene with another, potentially healthy one. It sets itself apart from other gene-editing techniques, Travis said, because it's so relatively easy and inexpensive to use. 

This year, scientists used CRISPR to modify genes in pigs to make their organs viable for transplants into humans, and to make super-muscular beagles

Here's a video announcing all the runner-ups and the winner:

Learn more about CRISPR and why 2015 was such a big year for the gene-editing technique.

CHECK OUT: Scientists may soon be able to 'cut and paste' DNA to cure deadly diseases and design perfect babies

NEXT: Chinese scientists just made the world's first genetically edited, super muscly dogs — and they named one Hercules

Join the conversation about this story »

NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

'We all kind of marvel at how fast this took off'

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Jennifer Doudna CRISPR

On a warm September afternoon on the verdant campus of Long Island's Cold Spring Harbor Laboratory, an elite cadre of scientists gathered to discuss a simple yet incredibly powerful new genetic technology.

Jennifer Doudna was dressed casually in a blazer and jeans, with a scarf tossed gently around her neck to compliment a loose bob of blonde hair. Raised in Hilo, Hawaii, she retains a hint of the friendly islander vibe, even though she's been recently thrust into the scientific spotlight.

A biochemist at the University of California, Berkeley, Doudna is widely credited as one of the pioneers of a genetic technology that lets scientists tweak the DNA of practically any living creature.

Known as CRISPR/Cas9, the technique has been credited with the potential to cure genetic defects, eradicate diseases, and even end the organ transplant shortage. 

On Thursday, Science Magazine selected the gene editing technique as its "Breakthrough of the Year," beating out the Pluto flyby and the discovery of a new human ancestor.

"We all kind of marvel at how fast this took off as a technology," Doudna told Business Insider. "There's just a really tremendous feeling of excitement for the potential of CRISPR."

But the technique has also drawn concerns. Some worry it could lead doctors and families to one day create "designer babies" whose genes have been carefully selected to make them smarter, stronger, or more beautiful.

There's a scarier possibility linked with CRISPR, too: Scientists — or anyone with access to a basic biology lab — could unleash genetic mutations that could spread fairly easily through a population of animals, and the results could be irreversible. For example, some have proposed using this method to prevent mosquitoes from spreading malaria, but the changes could get out of hand and wipe out other species or entire ecosystems. 

cold spring harbor.JPG

Hacking our DNA

All living things, from amoebas to humans, have a molecular blueprint called DNA in their cells, which directs the activities that keep the organism alive. DNA is made up of long, twisted strands of four molecular "letters" (A, T, G, and C), which pair up according to strict rules, and their order determines how proteins — the vital molecules that perform all the major tasks in our cells — are made.

BI Graphic_CRISPR Timeline (1)Beginning in the '60s and '70s, recombinant DNA technology allowed scientists to combine DNA from different plants and animals in ways that don't exist in nature.

First, there was the discovery of proteins called restriction enzymes, which allowed scientists to cut DNA in specific places. Later, scientists discovered two important genetic tools — "TALENs" and zinc finger nucleases — which enabled them to edit DNA more precisely.

Now there is CRISPR.

CRISPR is short for "clustered regularly interspaced short palindromic repeats," or repeated bits of DNA. A related set of "CRISPR associated genes" or Cas, contain instructions to make proteins that cut DNA.

Essentially, CRISPR gives scientists an unprecedented level of control in editing DNA. It allows scientists to cut faulty or unwanted portions and paste in more desirable bits. Doudna and French biologist Emmanuelle Charpentier are among those credited with discovering it, while studying the behavior of bacteria and their single-celled cousins, archaea.

But Feng Zhang, a molecular biologist at the Broad Institute and MIT, claims he developed the technique independently. Zhang was awarded the first patent for CRISPR in April 2014, and a legal battle is now raging between his and Doudna's institutions.

Bacteria use the CRISPR/Cas system as a way to defend themselves against nasty viruses. The bacteria use a protein called Cas9, which acts like a pair of molecular scissors to cut DNA in a precise location. Then they use these "scissors" to cut out pieces of the invader's DNA, and incorporate it into their own genomes so they can recognize the enemy in future.

Doudna and Charpentier quickly realized this same system could be used to edit the DNA of any organism, including humans.

"It was kind of a like a lightning bolt," Doudna says of the discovery. "It was definitely an 'aha' moment."

It was kind of a like a lightning bolt. It was definitely an 'aha' moment.

Now scientists can choose which gene they want to modify, use the Cas9 "molecular scissors" to snip it out, and swap in a more desirable version.

Then the cell repairs the DNA.

Doudna and Charpentier published their foundational findings in a 2012 study. It's widely believed the pair will someday win a Nobel Prize for their work. Doudna calls CRISPR a "Swiss Army knife," because it can be used in a wide variety of contexts, from making permanent changes in DNA to turning genes on or off temporarily to start or stop the production of proteins.

CRISPR infographic

The promise of genetic cures

CRISPR has already been used to fix genetic defects that lead to disease in a variety of animals, including humans.

Scientists have used CRISPR to cure a rare, muscle-wasting disease called Duchenne muscular dystrophy (DMD) in mice, and to stop the formation of deadly proteins in a mouse infected with Huntington's disease, a fatal disorder that causes the brain cells to progressively degenerate.

crispr lab.JPGIn April, Chinese researchers announced they had used CRISPR to modify human embryos in order to cure a fatal blood disorder known as beta thalassemia. The announcement sparked outrage among some in the scientific community, who felt the technology wasn't mature enough to be used in humans.

Now a biotechnology startup founded by Doudna and other early CRISPR pioneers has announced plans to use CRISPR in adult humans as early as 2017. The startup, Editas Medicine, plans to use it treat a rare form of blindness.

Other gene editing technology exists too. A rival method was just used to tweak a child's genes to cure her leukemia, as Sharon Begley reported for STAT.

Yet CRISPR, despite its promise, has yet to be proven safe for use in human therapies.

"In my opinion, the data is not there to say [the use of CRISPR] is safe or reliable," Joy Larsen Haidle, president of the National Society of Genetic Counselors, told Business Insider.

And if we use it, she added, "Do we risk causing a different problem we didn't anticipate?"

Even if it were safe, CRISPR has people worried about the ethics of tinkering with our genetic identity.

'Designer babies' and playing God

There's a widespread concern that a powerful tool like CRISPR could be used by parents to create "designer babies." Some compare this ability to choose perfect genes for children — including what they'll look like and how healthy, talented or smart they'll be — to playing God.

Hank Greely, a lawyer and bioethicist at Stanford University, thinks that's kind of a non-issue.

"There's this idea that the human germline is the sacred essence of our species," Greely said at the Cold Spring Harbor conference. But that's nonsense, he added, because we share most of our genes with other species.

In fact, existing methods already allow parents some limited control over their children's DNA. The most common form of this combines genetic screening with in vitro fertilization (IVF).

A child touches her pregnant mother's stomach at the last stages of her pregnancy in Bordeaux April 28, 2010. REUTERS/Regis Duvignau  For example, parents who are carriers for genetic disorders and diseases can undergo screening to ensure the faulty gene doesn't get passed on to their children. Doctors can simply pick out a sperm and egg that contain healthy genes, combine them through in vitro fertilization, and implant that embryo in the mother.

With such powerful tools already available to parents and scientists, some wonder why CRISPR would even be necessary for human trials.

"I haven't seen anybody give a legitimate medical reason [for using CRISPR in human embryos] that couldn't be achieved through other means," New York Times columnist and science writer Carl Zimmer told Business Insider.

"We're not going to see huge armies of modified humans anytime soon."

In the future, however, it's not hard to imagine that CRISPR could be used to endow children with traits that can't be screened for and aren't medically necessary, like intelligence or athleticism.

But these traits are controlled by dozens of genes or more, and it could be years before we can enhance them without causing other, possibly lethal, genetic problems. Even then, the procedure will probably only be available to the wealthy at first, which could lead to a society of genetically enhanced "haves" and "have-nots."

While "we're not going to see huge armies of modified humans anytime soon," Doudna said, "I realized fairly quickly that [CRISPR] was going to have the potential to make permanent changes in human embryos."

But despite all the focus on genome editing in humans, some of the first medical uses are likely to involve other animals.

A new source of organs 

Scientists are already working on using CRISPR to make animal organs suitable for human transplants.

PigsCurrently, about 22 people die each day waiting for an organ transplant. For years, scientists have proposed using organs from animals (preferably pigs), a process called xenotransplantation. But there's a problem: These organs contain harmful viruses in their DNA that can attack human tissue.

George Church, a geneticist at Harvard Medical School, wants to solve the problem with gene editing and CRISPR.

Church has spent years developing better methods for cutting and recombining DNA. He developed the first direct genome sequencing method in 1984, and helped start the Human Genome Project. He has also played a big role in the development of synthetic biology, Obama's BRAIN Initiative, and efforts to bring animals like woolly mammoths back from the dead.

Now, he wants to use CRISPR to make more organs available for xenotransplants. In early October, Church and his team announced they had modified more than 60 genes in pig embryos to get rid of some of the virus DNA that makes their tissue dangerous to humans.

Billions of dollars were invested in xenotransplantation research in the mid- to late-1990s, Church told Business Insider, but it fizzled out because scientists couldn't find a way to get rid of these viral bits of DNA. "Fast-forward 15 years later, we got rid of them in 14 days with CRISPR and a lot less money," Church says.

If all goes well, he hopes to be doing test transplants in monkeys next year, and human clinical trials could soon follow.

Meanwhile, Church is also pursuing a totally different avenue of CRISPR research that could have much more widespread consequences.

'Gene drive' and losing control

dna cut and paste crisprCRISPR can also be used to force a particular gene to be inherited by an organism's offspring — a phenomenon known as gene drive.

For example, some have proposed using gene drive in mosquitoes to make them less likely to infect people with deadly diseases like malaria. Church has already demonstrated the use of gene drives in yeast, and some of his colleagues have done it in fruit flies.

When two animals reproduce sexually in the wild, their offspring usually inherits two copies of a gene, one from each parent. But scientists at UC San Diego figured out a way to use CRISPR in fruit flies to convert one version of a gene into more desirable version. The resulting flies got two copies of the desired gene, ensuring it would get passed on to 100% of the offspring they had.

But if left unchecked, these changes could spread like wildfire through a population. Once these mutant genes are unleashed, there's no way to control their spread, and if it backfires, we could accidentally wipe out an entire species.

That's why Church and others have called for stringent safety measures in doing gene drive experiments, so the modified organisms don't escape from the lab.

This is one of Doudna's biggest fears. "I think there's always the risk of something going rogue," she said.

In one recent study, scientists at Cornell University created a mathematical model to see how rapidly gene drive could cause a gene to spread through a population. The results were striking: Compared to a naturally occurring gene, which could take hundreds of generations to become widespread, the modified gene took only a few tens of generations.

For example, imagine scientists tweaked a gene in mosquitoes that prevents them from carrying malaria, but the modified gene somehow jumped into a related species. If it jumped into, say, honey bees — whose populations in the wild are already on the decline — farmers could have a hard time pollinating their crops, and the world could face food shortages.

And the scariest thing is, you don't even have to be a professional scientist to do such an experiment. The raw materials needed to use CRISPR are available online at relatively cheap costs, and some experts have suggested that amateur "biohackers" with basic biology skills could easily get their hands on them and send modified organisms out into the world.

Doudna emphasized the importance of international debate on these and other issues raised by gene editing.

In early December, scientists and policy experts convened at a summit hosted by the National Academy of Sciences in Washington, D.C., to discuss concerns about using CRISPR in humans, specifically. They concluded that editing human genes should not be banned outright, but modifying embryos shouldn't be allowed until it can be proven safe.

Given the enormous potential of gene editing, it's more important scientists handle the technology responsibly.

But as Church said, "There's almost always somebody who's in a bit of a rush, and they can mess up the party for everybody."

NEXT UP: CRISPR, the fancy new technology that lets people edit genes, could have an unprecedented and horrific consequence

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

These are some of the crazy things scientists did using gene editing in 2015

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dna cut and paste crispr

Gene editing was one of the most talked-about topics of 2015, and rightly so.

One technique in particular, known as CRISPR/Cas9, has made it possible to quickly and precisely edit genes by cutting and pasting bits of DNA, opening the door to curing genetic defects and preventing the spread of disease. It's already been used in everything from mice to human embryos.

Meanwhile, other gene editing techniques are already being developed to treat cancer and other diseases.

We compiled a list of some of the biggest advances in gene editing made this year.

Here are a few:

Modified human embryos

human embryo blastocystIn April a team of Chinese scientists made headlines when they used CRISPR in human embryos to prevent a blood disorder called beta thalessemia, which got a lot of people fired up over whether the technology should be used in humans.

In early December, a group of experts that met in Washington decided that human gene editing should not be banned completely, but should not be used on embryos until it's proven safe.

And in late December, Congress passed a budget that makes it illegal to use federal funds to created genetically modified embryos, although some experts say this will only encourage companies to fund the research.

Pig organs for transplants

Meanwhile, scientists are also looking into how they can use gene editing to fix the shortage of organs for transplants. In October, Nature News reported that a group of Harvard scientists was using CRISPR in pig embryos to make their organs more compatible to transplant into humans.

Biologist George Church and his colleagues tweaked more than 60 genes in the pigs to get rid of harmful viruses that lurk in the animals' DNA and could make humans sick. Church co-founded a company called eGenesis in Boston that is now trying to figure out how to make the process cheaper.

Extra-muscly dogs

crispr dogsAnd it's not just pigs. Also in October, MIT Technology Review reported that another group of researchers in China had used CRISPR gene editing to create beagles with twice the normal amount of muscle. Specifically, the researchers edited dog embryos to cut out the myostatin gene, which keeps muscle cells from developing. When the gene was inactive, the animals could produce more muscle.

Although the first attempt was unsuccessful, the second attempt produced two dogs, a male named Hercules and a female named Tiangou (after China's mythical "heaven dog"), with up to twice the muscle mass of their littermates.

Malaria-free mosquitoes

Gene editing isn't only limited to curing genetic defects. It can also be used to make genetic changes spread rapidly through an entire population — something known as gene drive — to, say, prevent mosquitoes from spreading a disease.

In late November, a group of scientists at UC San Diego used CRISPR to make a population of mosquitoes resistant to spreading malaria, a disease that killed more than half a million people last year.

And just two weeks later, scientists in London announced they had modified another type of mosquito — which is responsible for 90% of malaria deaths — to stop it from spreading the disease, STAT News reported.

Unraveling the human genome

In addition to its many clinical applications, gene editing is also helping scientists understand our basic biology. In October, scientists used CRISPR to identify the set of essential genes a human cancer cell needs to survive.

These genes encode proteins involved in fundamental processes that keep our cells healthy, and are rarely mutated in nature. The findings may also guide scientists in finding a cancer's weak points, where it is most vulnerable to attack.

CRISPR is certainly an effective way to edit a gene, but it's not the only game in town.

A treatment for leukemia

Scientists are already using gene editing to treat diseases in people, a form of gene therapy. In November, as STAT News reported, doctors used another technique known as TALENs to treat a young girl's leukemia, and she is now in remission. By tweaking special cells in her body's immune system, they were able to send them on a search-and-destroy mission to target cancerous tumor cells.

Customized pet 'micropigs'

p3In September, Nature News reported that a group of researchers at China's genomics institute BGI was creating genetically-engineered "micropigs" to sell as pets.

They used the TALEN method gene editing to modify Bama pigs, which are already only about half as big as regular farm pigs, to inactivate a gene that controls growth. Without that gene, the pigs didn't grow to a normal size.

The researchers plan to sell the pigs for about 10,000 yuan (US$1,600), according to Nature News.

While most of the focus on gene editing has been on human therapies, the techniques can also be used to modify plants, including the food we eat. For example, it might be possible to engineer hypo-allergenic peanuts, as MIT Technology Review reported in October.

These are just some of the creative ways scientists have used gene editing, but we can probably expect many more in the coming years.

NEXT UP: Scientists may soon be able to 'cut and paste' DNA to cure deadly diseases and design perfect babies

DON'T MISS: CRISPR, the gene-editing tech that's making headlines, explained in one graphic

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

Scientists sequenced the first ancient Irish genomes and found something surprising

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ireland

A team of researchers from Trinity College Dublin and Queen's University Belfast has sequenced the first genomes from ancient Irish people, providing insights into questions about the origins and culture of the region.

Results of the study were published in the journal Proceedings of the National Academy of Sciences of the United States of America.

The researchers sequenced the genome of an early farmer woman who lived near Belfast some 5,200 years ago and the genomes of three men from a later period, around 4,000 years ago in the Bronze Age, after the introduction of metalworking, according to a statement on the Trinity College Dublin website.

"There was a great wave of genome change that swept into Europe from above the Black Sea into Bronze Age Europe and we now know it washed all the way to the shores of its most westerly island," Professor Dan Bradley of Trinity College Dublin, who led the study, said.

The study revealed that the Neolithic woman farmer's ancestry originated in the Middle East, where agriculture was invented. The woman was similar to modern people from Spain and the Mediterranean island of Sardinia, and had black hair and brown eyes.

In contrast, the three Bronze Age men from Rathlin Island had at least a third of their ancestry from the Pontic Steppe, a region north of the Black Sea now spread across present-day Russia and Ukraine. They had a gene component that is responsible for blue eyes and an important chromosome variant that causes the genetic disease haemochromatosis, which causes the body to retain a higher content of iron than normal.

"It is clear that this project has demonstrated what a powerful tool ancient DNA analysis can provide in answering questions that have long perplexed academics regarding the origins of the Irish," said Eileen Murphy, senior lecturer at Queen's University Belfast, who was also involved in the study.

With this study, researchers have found clues to the origins of the Irish people and identified some reasons for certain intriguing genetic traits among them, such as a higher incidence of haemochromatosis and an increased lactose tolerance well into adulthood.

Researchers now hope this study will spur further research on the subject. "This degree of genetic change invites the possibility of other associated changes, perhaps even the introduction of language ancestral to western Celtic tongues," Professor Bradley said.

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Five scientific breakthroughs we've learned from the International Space Station

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international space station

The International Space Station is the longest-running continuously inhabited human outpost in space – this year it celebrated its 15th anniversary. As the ISS orbits the Earth it is essentially in a state of free fall, counteracting the Earth’s gravity and providing an ideal platform for science in space.

Science aboard the ISS is decidedly cross-disciplinary, including fields as diverse as microbiology, space science, fundamental physics, human biology, astronomy, meteorology and Earth observation to name a few. But let’s take a look at some of the biggest findings.

1. The fragility of the human body

The effects of the space environment on the human body during long duration spaceflight are of significant interest if we want to one day venture far beyond the Earth. A crewed journey to Mars, for example, may take a year, and the same time again for the return leg.

Microgravity research on the ISS has demonstrated that the human body would lose considerable bone and muscle mass on such a mission. Mitigation technology, involving the use of resistive exercise devices, has shown that it is possible to substantially alleviate bone and muscle loss. Coupled with other studies into appropriate nutrition and drug use, these investigations may lead to improvements in the treatment of osteoporosis, a condition affecting millions of people across the globe.

2. Interplanetary contamination

A long-term goal of many space agencies is to fly humans to Mars. The red planet is of particular interest because it is one of the most accessible locations in which past or present extraterrestrial life may exist. It is imperative, therefore, that we do not inadvertently contaminate Mars with terrestrial organisms. Likewise, we must be careful not to back-contaminate Earth with any possible Martian life forms during a sample return mission. 

Certain hardy bacterial spores, such as the Bacillus subtilis in the picture were exposed to space aboard the ISS, but shielded from solar UV-radiation, and demonstrated a high survival rate. The space vacuum and temperature extremes alone were not enough to kill them off. These remarkable bugs could be capable of surviving an interplanetary space flight to Mars and live there, under a thin layer of soil, were they to be accidentally deposited by a spacecraft.

This finding has huge implications; if microorganisms, or their DNA, can survive interplanetary spaceflight, albeit by natural means, it leaves open the possibility that life on Earth may originally have arrived from Mars, or elsewhere .

3. Growing crystals for medicine

A key challenge in developing effective medicines is understanding the shape of protein molecules in the human body. Proteins are responsible for a huge range of biological functions, including DNA replication and digestion – and protein crystallography is an essential tool for understanding protein structure. Crystal growth within a fluid on Earth is somewhat inhibited by gravity-driven convection and the settling out of denser particles at the bottom of the fluid vessel.

Crystals in a microgravity environment may be grown to much larger sizes than on Earth, enabling easier analysis of their micro-structure. Protein crystals grown on the ISS are being used in the development of new drugs for diseases such as muscular dystrophy and cancer.

4. Cosmic rays and dark matter

dark matterSpace is permeated by a constant flux of energetic charged particles called cosmic rays. When cosmic rays encounter the Earth’s atmosphere they disintegrate, producing a shower of secondary particles which can be detected at ground level. Some cosmic rays may emanate from explosive events such as supernovae or, closer to home, flares on our own sun. But in many cases their source is unknown.

In order to better understand these enigmatic particles, we need to catch them before they reach the atmosphere. Mounted on the ISS is the Alpha Magnetic Spectrometer (AMS), the most sensitive particle detector ever launched into space. This device collects cosmic rays and measures both their energy and incoming direction.

In 2013, early results showed that cosmic ray electrons and their anti-matter counterparts, positrons, emanated from all directions in space, rather than from specific locations.

Approximately one quarter of the mass-energy of the universe is believed to be comprised of dark matter, a substance of unknown composition, which may be a source of cosmic rays. The theorized presence of dark matter envisages a halo of the material surrounding the Milky Way (and other galaxies), and is thus supported by the isotropic nature of the cosmic ray electrons and positrons detected by AMS, essentially coming at us from all directions in space.

It has never been detected directly and it’s true nature is one of the greatest unanswered questions in modern astrophysics.

5. Efficient combustion

match fireDeliberately starting a fire on an orbital space station does not sound, initially, like a good idea. It turns out, however, that the physics of flames in microgravity is quite interesting. The flame extinguishment study is an understandably carefully designed facility whereby tiny droplets of fuel, which form into spheres under microgravity, are ignited.

Flames on Earth assume their familiar shape because gravity-driven convection results in an updraught of air, drawing the burning mixture of fuel and gas upwards. In microgravity there is no updraught and so a flame assumes a diffuse spherical shape around the combustion source. Further, the yellow colour of a flame is produced by the incandescence of tiny soot particles. Soot forms from incomplete burning of the fuel and is a pollutant.

In microgravity, the combustion of a fuel is more complete and hence more efficient. A candle flame that would appear yellow on Earth, actually burns with a blue colour in microgravity and produces much less smoke. This kind of research enables the study of soot formation processes which has negative impacts on the environment and human health, and how droplets of fuel in a combustion engine transition from a liquid to a gas as they burn. This may one day lead to more efficient designs for combustion engines on Earth.

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NOW WATCH: Keeping fit in your 20s can lead to better memory and thinking skills in middle age


5 big breakthroughs scientists got out NASA's $150-billion space station

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international space station

The International Space Station is the longest-running continuously inhabited human outpost in space, and this year it celebrated its 15th anniversary.

As the ISS orbits the Earth it is essentially in a state of free fall, counteracting the Earth’s gravity and providing an ideal platform for science in space.

Science aboard the ISS is decidedly cross-disciplinary, including fields as diverse as microbiology, space science, fundamental physics, human biology, astronomy, meteorology and Earth observation to name a few.

But let’s take a look at some of the biggest findings:

1. The fragility of the human body

The effects of the space environment on the human body during long duration spaceflight are of significant interest if we want to one day venture far beyond the Earth. A crewed journey to Mars, for example, may take a year, and the same time again for the return leg.

Microgravity research on the ISS has demonstrated that the human body would lose considerable bone and muscle mass on such a mission. Mitigation technology, involving the use of resistive exercise devices, has shown that it is possible to substantially alleviate bone and muscle loss. Coupled with other studies into appropriate nutrition and drug use, these investigations may lead to improvements in the treatment of osteoporosis, a condition affecting millions of people across the globe.



2. Interplanetary contamination

A long-term goal of many space agencies is to fly humans to Mars. The red planet is of particular interest because it is one of the most accessible locations in which past or present extraterrestrial life may exist. It is imperative, therefore, that we do not inadvertently contaminate Mars with terrestrial organisms. Likewise, we must be careful not to back-contaminate Earth with any possible Martian life forms during a sample return mission.

Certain hardy bacterial spores, such as the Bacillus subtilis in the picture were exposed to space aboard the ISS, but shielded from solar UV-radiation, and demonstrated a high survival rate. The space vacuum and temperature extremes alone were not enough to kill them off. These remarkable bugs could be capable of surviving an interplanetary space flight to Mars and live there, under a thin layer of soil, were they to be accidentally deposited by a spacecraft.

This finding has huge implications; if microorganisms, or their DNA, can survive interplanetary spaceflight, albeit by natural means, it leaves open the possibility that life on Earth may originally have arrived from Mars, or elsewhere.



3. Growing crystals for medicine

A key challenge in developing effective medicines is understanding the shape of protein molecules in the human body. Proteins are responsible for a huge range of biological functions, including DNA replication and digestion – and protein crystallography is an essential tool for understanding protein structure. Crystal growth within a fluid on Earth is somewhat inhibited by gravity-driven convection and the settling out of denser particles at the bottom of the fluid vessel.

Crystals in a microgravity environment may be grown to much larger sizes than on Earth, enabling easier analysis of their micro-structure. Protein crystals grown on the ISS are being used in the development of new drugs for diseases such as muscular dystrophy and cancer.



See the rest of the story at Business Insider

There's a fascinating reason why you're more likely to get sick in the winter

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Jon Snow

Ever wonder why you only seem to catch a cold when it's, well, cold out?

Of course, germs — and not the weather — are the real culprits here: You have to come into contact with the bugs that cause illness to come down with one.

But there are several reasons why we may actually be more likely to get sick this time of year, and frigid temperatures are just one of them.

Our genes change with the seasons, just like the weather

A recent study found that as much as a quarter of our DNA actually changes with the seasons: During the winter months, the study found, our bodies pump up the levels of many of the genes linked with inflammation, triggering the tell-tale signs of swelling and discomfort that our bodies use to protect us from colds and the flu.

In the summer, on the other hand, an altogether different set of genes get more highly expressed, including some that help regulate our blood sugar, potentially curbing cravings and helping us burn off excess fat. 

influenza virus particleMany parts of our immune system, which kicks into action to fend off an infection or cold, shift too.

The researchers combed through data from previous studies looking at people's DNA until they had information on roughly 1,000 people living in six different countries: Australia, Germany, the US, the UK, Iceland, and Gambia, a small West African country between Senegal and Guinea-Bisseau.

This way, they could get a look at people's genes and how they changed (if they did at all) over time and according to their location and exposure to sunlight.

They found that in Europe, the expression of inflammatory genes got ramped up during the winter months. But in Gambia, where there is virtually no winter, these inflammatory genes were amplified in the rainy months, when mosquito populations are at their peak and the risk of malaria is the highest.

Previous research has found similar seasonal changes in various components of the immune system. A study from last year, for example, found gene expression in red blood cells shifted with the seasons. 

Frigid temperatures force us indoors

When it's miserable out, we head inside.

human rhinovirus common coldSome research suggests that both the cold air from outdoors as well as the dry air from indoors may play a role in protecting the aerosol droplets we sneeze and cough into the air, allowing them to more easily spread from one sick person to another. 

Plus, stuffy, unventilated indoor air could make it easier for colds to spread; a 2011 study of crowded college dorms in China found that in rooms with poorer ventilation, colds were more likely to thrive.

Cold weather might help some germs prosper

Some research from the National Institutes of Health suggests that in cold temperatures, the outer shell of flu virus particles get tougher and more hardy so that it survives longer and could be easier to spread.  

And being outside when it's chilly may make it harder for the hairs and mucus in our noses to protect us from germs. A study of mice published last year found that rhinovirus, which causes the common cold, replicates more easily in cooler temperatures than at warmer ones.

So bundle up this winter, and keep in mind that your immune system is doing the best it can to keep you healthy.

UP NEXT: A geneticist says any new parent should 'roll their child on floor of the New York subway' — here's why

SEE ALSO: There's a fascinating reason why it feels like it gets harder to sleep as you age

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NOW WATCH: Video shot from a helicopter perfectly captures how cold it is in New York right now

A legal storm is threatening a startup backed by Bill Gates that wants to edit people's genes by 2017

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Jennifer Doudna UC Berkeley Biochemistry Molecular biology scientist Breakthrough Prize panel

A patent fight has been brewing over a new gene-editing technology that could be worth hundreds of millions, and it could throw a wrench in the plans of a company that just went public.

On Monday, Editas Medicine, the startup whose backers include Bill Gates and Google Ventures, filed for a $100-million IPO. But the vital patents the company holds — which surround its exclusive rights to gene-editing technology CRISPR — could soon be rendered worthless.

If a legal proceeding for settling patent disputes that was initiated in December moves forward, the company's patents could be revoked, Wired reports.

CRISPR, the hot new technology at the center of the controversy

The technology in question, known as CRISPR/Cas9, is a method for cutting and pasting DNA inside the cells of living organisms, including humans. The technique has been hailed for its potential to cure deadly diseases, modify crops, and even help scientists create genetically engineered designer babies.

Last November, Editas announced plans to use CRISPR technology in humans as early as 2017 to treat a rare form of blindness.

Two teams are claiming credit for discovering CRISPR — one led by Jennifer Doudna of UC Berkeley, the other led by Feng Zhang of MIT and the Broad Institute. Doudna's team filed for the first CRISPR patent, but Zhang's team paid to fast-track its own application, and was ultimately awarded the patent.

Editas's SEC filing references the disputed patents, and admits that "If we or our licensors are unsuccessful in any of these proceedings ... [it] could have a material adverse impact on our business."

"First to invent"

The dispute arises because both applications were filed while a somewhat archaic US law which granted patent rights to the "first to invent" was still in effect. On March 16, 2013, a new law took effect that changed this to the "first to file," the system used by most other countries.

In December of 2015, the Berkeley team filed what's known as an "interference proceeding." This is just a legal term for when there are multiple patent applications for the same technology, and a court must decide which party to award the patent to. As Wired points out, citing a blog post by New York Law School professor Jacob Sherkow, these proceedings are rare.

As Sherkow notes, Doudna's team filed their application on March 15, 2013, a day before the new "first to file" patent rules went into effect. Zhang's team filed theirs on October 15, 2013, but claimed they had invented the technology on December 12, 2012, under the old rules.

According to Wired, an appeals board still needs to approve this legal process, but is likely to follow the recommendation made in December.

The decision could come down to whether the patent covers the use of CRISPR to edit DNA, which Doudna claims to have invented, or its specific use in cells that have a nucleus (known as eukaryotic cells), which Zhang's team says it pioneered.

If the court decides in favor of Doudna and UC Berkeley, it could be bad news for Zhang — and for Editas.

NEXT UP: A startup that wants to start using a controversial gene-editing tool in people by 2017 just filed to go public

SEE ALSO: A controversial new gene-editing technology could win a Nobel — and a fight is raging over who invented it

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

A tool that lets scientists edit the human genome just got a lot more accurate

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dna

From curing genetic diseases to bringing back extinct species, the applications for gene editing tool CRISPR seem as limitless as the human imagination.

And though the enzyme complex is more precise and easier to use than many of its predecessors, it occasionally still makes cuts at places in the genome that the researchers didn’t intend.

Now a team of researchers from Massachusetts General Hospital has developed a new variation of CRISPR that eliminates these off-target modifications, according to a study published today in Nature.

That could make many of the far-fetched applications—including those that require editing the human genome—more feasible more quickly.

CRISPR contains two main components: guide RNA, which allows the enzyme to pick out a particular pattern of nucleotides from the entire genome, and the protein Cas9 that snips the strands of DNA. Occasionally, the guide RNA directs the enzyme to the wrong part of the genome, or to other repetitions of the nucleotides that weren’t the researchers’ intended target.

And though these off-target cuts don’t happen often, a snip in just the wrong place could have disastrous effects on the organism. It’s one of the reasons why some experts are opposed to editing the human genome.

ultrasound baby sonogram

The researchers paid special attention to the interaction between the DNA and Cas9, the cutting protein. "Our previous work suggested that Cas9 might bind to its intended target DNA site with more energy than it needs, enabling unwanted cleavage of imperfectly matched off-target sites," study author Vikram Pattanayak said in a press release.

To tweak that interaction, the researchers altered the number of amino acids that Cas9 uses to bind to the DNA. After testing 15 different iterations, they found one version that produced no detectable off-target effects. They named it SpCas9-HF1. By adding more amino acids to the mix, the researchers found that they could extend the range of DNA that the protein targets, making it more useful to scientists.

This isn’t the first CRISPR variation that researchers have engineered. And it’s not even the first to resolve off-target modifications. As other variants make their way into the scientific community, researchers will figure out which work best, improving the quality of their experiments. With any luck, these precise enzymes will expedite these tests so that CRISPR’s possible applications can become realities.

This article originally appeared on Popular Science.

UP NEXT: CRISPR, the gene-editing tech that's making headlines, explained in one graphic

NOW READ: Scientists may soon be able to 'cut and paste' DNA to cure deadly diseases and design perfect babies

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

8 genetic mutations that can give you 'superpowers'

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hiker on a mountain in oregon

More than 99% of your genetic information is exactly the same as every other person on the planet.

Your genes determine your skin color, gender, hair color, and whether or not you have certain genetic diseases.

But it's in that less than 1% that things get interesting. Specific genetic variations, allow some of us to acquire certain — dare we say super — qualities.

Here are the ways our genes can predispose us to have special abilities:

NEXT: I tried 23andMe's new genetics test — and now I know why the company caused such a stir

SEE ALSO: The way the horrific villain in ‘Jessica Jones’ got his superpowers isn’t entirely unreal

ACTN3 and the super-sprinter variant

We all have a gene called ACTN3, but certain variants of it help our bodies make a special protein called alpha-actinin-3. This protein controls fast-twitch muscle fibers, the cells responsible for the speedy tensing and flexing of the muscles involved in sprinting or weight-lifting.

This discovery, which happened around 2008 when geneticists studying elite sprinters and power athletes found that very few among them had two defective ACTN3 copies, is what led to the gene being dubbed the "sports gene." 

Among the general population, however, some 18% of us are completely deficient in the speedy-muscle-contracting protein — we inherited two defective copies of ACTN3.



hDEC2 and the super-sleeper mutation

Imagine if you could feel totally energized on just 4 hours of sleep each night. Some people are naturally that way. These people are called "short-sleepers," and scientists are only recently uncovering what exactly predisposes them to be this way. For the most part, researchers believe the capabilities are connected to specific genetic mutations, and have publicly identified one on the hDEC2 gene. 

That means short sleeping habits can run in the family, and scientists hope to one day learn how to harness this ability so it can be used to help people switch up their sleeping routines.



TAS2R38 and the supertaster variant

About a quarter of the population tastes food way more intensely than the rest of us.

These "supertasters" are more likely to put milk and sugar in bitter coffee, or avoid fatty foods. The reason for their reaction, scientists think, is programmed into their genes, specifically one called TAS2R38, the bitter taste receptor gene. The variant responsible for super-tasting is known as PAV, while the variant responsible for below-average tasting abilities is known as AVI.



See the rest of the story at Business Insider

Bill Gates is betting on a new company that just raised $100 million to create 'a simple blood test for every form of cancer'

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dna

Cancer in its many forms kills millions around the globe every year. It's the second-leading cause of death in the US, after only heart disease.

It's an illness that starts when something somewhere in our body goes wrong and cells begin to divide uncontrollably.

One key part of helping more patients survive is finding new ways to catch cancer sooner, so doctors can treat it before it has time to spread.

Catching cancer early is an incredible challenge, but a new way to detect it in the blood may totally revolutionize cancer treatment in just a few years.

On January 10, leading gene sequencing company Illumina announced the creation of a new company that's trying to invent a blood test that could hopefully find all cancers in their early stages, something that would be a tremendous help to those trying to detect the illness before it is too difficult to treat effectively.

The team behind the announcement is not the first to attempt something of this nature, and previous efforts by other companies have been criticized for having too little research behind them or focusing too much on detection rather than treatment. Crucially, this blood test does not exist yet, and while scientists will be working furiously to try to make it happen, it doesn't mean they will succeed.

But this latest bet is one of the best-funded, with a number of illustrious scientists already involved — and Illumina's backing may give it a crucial boost.

The new company, called Grail (as in, it's trying to achieve something considered the Holy Grail for cancer researchers) hopes to have a pan-cancer blood test by 2019, an extremely ambitious goal. 

That would mean that anyone could add such a test onto their annual physical — no need for separate tests for different types of lung cancer, prostate cancer, or any other form of the illness.

Bill Gates

Grail is launching with $100 million in Series A financing, backed by Illumina, Bill Gates, Sutter Hill Ventures, and Jeff Bezos' Bezos Expeditions. Illumina and Memorial Sloan Kettering Cancer Center are partnering to help launch a study to see if Grail's test can actually do what they hope it will do.

"We look forward to a day in the not too distant future where there would be a simple blood test for every form of cancer," Dr. Richard Klausner, former director of the National Cancer Institute and a board member of Grail, said on a press call on Sunday.

The key to this effort is the ability to detect what's known as circulating tumor DNA, or CTDNA. In recent years, doctors have discovered that the genetic material from cancerous tumors starts circulating in our bodies.

"It's abundantly clear that these molecules are in the blood," Illumina CEO Jay Flatley said on the call.

So, along with Memorial Sloan Kettering, Grail plans on following hundreds of thousands of patients over the next few years and trying to see if they can detect CTDNA in those patients whenever they develop cancer.

That research will be crucial: An earlier effort by another company, Pathway Genomics, to create a "liquid biopsy" for cancer was greeted in September by a stern letter from the Food and Drug Administration (FDA) warning that the agency had "not found any published evidence that this test or any similar test has been clinically validated as a screening tool for early detection of cancer in high risk individuals."

Flatley is well aware of the minefield Grail is entering. "If you look at this business, it’s littered with failures. With a few exceptions, screening tests have been invariably horrible," he told the MIT Technology Review. "It’s a big challenge."

If Grail's trials show its test can detect stage 2 cancer, Flatley says the market value of those tests could be from $20 to $40 billion. If CTDNA can accurately identify stage 1 cancers, that would give them a $100 billion value, according to Flatley.

Doing something like this does also comes with risks for overdiagnosis, even if the research is successful; a regular test for cancer risks causing many people to receive potentially dangerous treatment for cancers that wouldn't have seriously impacted their health in the long run, according to José Baselga, Physician-in-Chief and Chief Medical Officer of Memorial Sloan Kettering.

But the ways that CTDNA screening could work, and the opportunities that screening creates for early treatment, could revolutionize cancer treatment in ways that "cannot be overemphasized," according to Baselga.

"We must diagnose cancer earlier," he says.

Join the conversation about this story »

Illumina is teaming up with Bill Gates and Jeff Bezos to develop a new kind of cancer test (ILMN)

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RTR3G512

Catching cancer early is an incredible challenge, but a new way to detect it in the blood may totally revolutionize cancer treatment in just a few years.

Illumina, the $25 billion maker of gene sequencing technology, has created a new company to invent a blood test to detect all cancers in their early stages, something that would be a tremendous help to those trying to detect the illness before it is too difficult to treat effectively.

This isn't the first attempt of this nature, and previous efforts by other companies have been criticized for having too little research behind them or focusing too much on detection rather than treatment. Crucially, this blood test does not exist yet, and while scientists will be working furiously to try to make it happen, it doesn't mean they will succeed.

But this latest bet is one of the best-funded, with a number of illustrious scientists already involved — and Illumina's backing may give it a crucial boost.

The new company, called Grail (as in, it's trying to achieve something considered the Holy Grail for cancer researchers) hopes to have a pan-cancer blood test by 2019, an extremely ambitious goal. 

That would mean that anyone could add such a test onto their annual physical — no need for separate tests for different types of lung cancer, prostate cancer, or any other form of the illness.

Bill Gates

Grail is launching with $100 million in Series A financing, backed by Illumina, Bill Gates, Sutter Hill Ventures, and Jeff Bezos' Bezos Expeditions. Illumina and Memorial Sloan Kettering Cancer Center are partnering to help launch a study to see if Grail's test can actually do what they hope it will do.

"We look forward to a day in the not too distant future where there would be a simple blood test for every form of cancer," Dr. Richard Klausner, former director of the National Cancer Institute and a board member of Grail, said on a press call on Sunday.

The key to this effort is the ability to detect what's known as circulating tumor DNA, or CTDNA. In recent years, doctors have discovered that the genetic material from cancerous tumors starts circulating in our bodies.

"It's abundantly clear that these molecules are in the blood," Illumina CEO Jay Flatley said on the call.

So, along with Memorial Sloan Kettering, Grail plans on following hundreds of thousands of patients over the next few years and trying to see if they can detect CTDNA in those patients whenever they develop cancer.

That research will be crucial: An earlier effort by another company, Pathway Genomics, to create a "liquid biopsy" for cancer was greeted in September by a stern letter from the Food and Drug Administration (FDA) warning that the agency had "not found any published evidence that this test or any similar test has been clinically validated as a screening tool for early detection of cancer in high risk individuals."

Flatley is well aware of the minefield Grail is entering. "If you look at this business, it’s littered with failures. With a few exceptions, screening tests have been invariably horrible," he told the MIT Technology Review. "It’s a big challenge."

If Grail's trials show its test can detect stage 2 cancer, Flatley says the market value of those tests could be from $20 to $40 billion. If CTDNA can accurately identify stage 1 cancers, that would give them a $100 billion value, according to Flatley.

Doing something like this does also comes with risks for overdiagnosis, even if the research is successful; a regular test for cancer risks causing many people to receive potentially dangerous treatment for cancers that wouldn't have seriously impacted their health in the long run, according to José Baselga, Physician-in-Chief and Chief Medical Officer of Memorial Sloan Kettering.

But the ways that CTDNA screening could work, and the opportunities that screening creates for early treatment, could revolutionize cancer treatment in ways that "cannot be overemphasized," according to Baselga.

"We must diagnose cancer earlier," he says.

Join the conversation about this story »

NOW WATCH: Doing this for 5 minutes every day can help people who suffer from depression


We got a glimpse at how the cancer test that Jeff Bezos and Bill Gates just invested in will work (ILMN)

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RTR3G512

Illumina, the maker of DNA-sequencing technology, grabbed headlines on Sunday when it said that it was teaming up with a group of Silicon Valley investors to develop a blood test for any kind of cancer at an earlier stage than previously possible.

Using Illumina's technology, a new company called Grail will look for a way to measure circulating nucleic acids (CNAs) — bits of DNA that circulate in the blood outside blood cells. While most of our DNA is inside our cells, scientists use CNAs as a noninvasive way to test for cancer and other signs of disease.

Illumina is the majority owner of Grail, which raised over $100 million from investors, including Arch Venture Partners, Bezos Expeditions, Bill Gates, and Sutter Hill Ventures.

At a breakout at the JPMorgan Healthcare Conference on Monday, Illumina's chief executive, Jay Flatley, explained just how difficult a task the new company faces.

To detect the cancer, Grail will be looking into just 0.01% of DNA in the human body.

"It's an extraordinarily low amount of DNA in the blood that we're going after," Flatley said.

But it's easy to see why investors are willing to back Flatley's efforts. Illumina's success in developing DNA-sequencing technology has turned it into a $25 billion market-cap company with over 4,000 employees and nearly $2 billion in annual revenue. Its machines are used by researchers, doctors, and consumer companies to do everything from understanding different types of cancer to decoding someone's ancestry.

Less than a decade ago, the process of sequencing an individual genome, or looking at someone's full set of DNA, cost anyone attempting it upward of $1 million. Today, that cost is closer to $1,000 and falling. That means DNA sequencing could move from being an expensive luxury to becoming as standard in healthcare as the flu shot, helping create a world where medical treatment is truly personal.

MIT Tech Review reports the cost of each Grail test will be less than $1,000.

SEE ALSO: The first mega-takeover of 2016 just landed

DON'T MISS: America's biggest group of doctors just launched a startup aimed at solving a growing problem with healthcare

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We might not exist if not for this accident that happened 600 million years ago

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cell division mitosis cells

Millions of years ago, a random genetic accident may have enabled all of modern multicellular life to evolve.

A single change was all that was needed to make the jump from single-celled life, like bacteria, to all multicellular life, including humans, scientists reported Jan. 7 in a study published in the journal eLIFE.

The findings not only explain a critical chapter of evolution, they also offer tantalizing clues to what goes awry when cancer cells stop functioning as team players and go back to acting like single-celled organisms, the researchers say.

A single genetic tweak

DNA encodes proteins, the molecules that perform all of the vital jobs in living cells. Mutations are random changes that occur in DNA when a cell divides. While most mutations are fatal to the organism, occasionally they can actually introduce a new piece of cellular machinery that can do something amazing.

In this case, a mutation allowed single-celled creatures to form a complex with each other, which gave rise to multicellular life.

"Our work suggests that new protein functions can evolve with a very small number of mutations," University of Oregon biochemist Ken Prehoda, who led the study, said in a statement. "In this case, only one was required."

The origin of all animals

evolution To discover this mutation, Prehoda and his colleagues studied a group of microscopic sponge-like creatures called choanoflagellates, which are the closest living single-celled relatives of animals. These tiny, sea-dwelling creatures have a tail, or flagellum, for swimming around, and can live on their own as well as in large colonies.

The researchers used a technique called ancestral protein reconstruction to go "back in time" to trace the genetic changes that led these single-celled creatures to evolve a protein that is critical for multicellular life.

They found that a mutation in the gene that encoded the animal's tail allowed it to align itself with other cells as part of a colony. This appears to have been the crucial step that allowed single-celled organisms to evolve into multicellular species. A version of this mutation can now be found in all animals, according to the researchers.

This genetic blip "was not solely responsible for the leap out of single-cellular life,"The Washington Post notes, but without it, we (and all our multi-celled cousins) might not be around.

And the findings don't just satisfy scientists' curiosity over how we evolved. Cancer is a disease where cells basically "forget" that they're part of a multicellular organism, Prehoda told The Post, so understanding what makes this happen could lead to better treatments, he said.

NEXT UP: 12 examples of evolution happening right now

SEE ALSO: 11 overlooked factors that affect the bacteria on your body and help determine your health

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NOW WATCH: Incredible animation shows 550 million years of evolution in 60 seconds

2 teams of scientists are fighting over a powerful gene editing technology — and the case just took a step forward

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US patent and trademark office

Two teams of scientists that both claim to have invented a powerful gene editing technology are now getting a formal chance to argue their cases.

On Monday, the US Patent and Trademark Office declared it would move forward with an interference proceeding, a somewhat archaic legal process for awarding credit in a dispute over who invented something first.

At stake is the rights to a gene-editing technology that could be worth hundreds of millions.

On Jan. 4, Editas Medicine, the startup whose backers include Bill Gates and Google Ventures, filed for a $100-million IPO. As Wired recently reported, the court's decision could render the vital patents the company holds — which surround its exclusive rights to gene-editing technology CRISPR — worthless.

But the decision won't be made overnight — the interference filing states that the process lasts approximately eight months.

CRISPR, the hot new technology at the center of the controversy

The technology in question, known as CRISPR/Cas9, is a method for cutting and pasting DNA inside the cells of living organisms, including humans. The technique has been hailed for its potential to cure deadly diseases, modify crops, and even help scientists create genetically engineered designer babies.

Last November, Editas announced plans to use CRISPR technology in humans as early as 2017 to treat a rare form of blindness.

Two teams are claiming credit for discovering CRISPR — one led by Jennifer Doudna of UC Berkeley, the other led by Feng Zhang of MIT and the Broad Institute. Doudna's team filed for the first CRISPR patent, but Zhang's team paid to fast-track its own application, and was ultimately awarded the patent.

Editas's SEC filing references the disputed patents, and admits that "If we or our licensors are unsuccessful in any of these proceedings ... [it] could have a material adverse impact on our business."

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"First to invent"

The dispute arises because both applications were filed while a somewhat archaic US law which granted patent rights to the "first to invent" was still in effect. On March 16, 2013, a new law took effect that changed this to the "first to file," the system used by most other countries.

The Berkeley team filed for an interference proceeding last December. As Wired points out, citing a blog post by New York Law School professor Jacob Sherkow, these proceedings are rare.

As Sherkow notes, Doudna's team filed their application on March 15, 2013, a day before the new "first to file" patent rules went into effect. Zhang's team filed theirs on October 15, 2013, but claimed they had invented the technology on December 12, 2012, under the old rules.

The decision could come down to whether the patent covers the use of CRISPR to edit DNA, which Doudna claims to have invented, or its specific use in cells that have a nucleus (known as eukaryotic cells), which Zhang's team says it pioneered.

If the court decides in favor of Doudna and UC Berkeley, it could be bad news for Zhang — and for Editas.

But the Broad Instute isn't worried.

In a statement, the Institute's representatives said: "Given that the underlying facts have not changed, we are confident the USPTO will reach the same conclusion it did initially when it awarded the patent and will continue to recognize the Broad and MIT roles in developing this transformative technology."

NEXT UP: A startup that wants to start using a controversial gene-editing tool in people by 2017 just filed to go public

SEE ALSO: A controversial new gene-editing technology could win a Nobel — and a fight is raging over who invented it

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

Doctors might one day treat cancer by cutting bad DNA out of your genes (CLLS)

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Gene-editing grabbed headlines recently after the discovery of CRISPR, a tool that allows scientists to cut out a particular, potentially faulty gene and paste another one in its place.

Dozens of other gene-editing technologies existed before CRISPR. French biotechnology company Cellectis was experimenting with one such technique, called TALENs.

Using the tool, Cellectis is developing treatments for cancers, and last year as part of a rare exception to a limited clinical trial, they treated an 11-month-old girl named Layla who had otherwise-untreatable leukemia.

Business Insider sat down with Cellectis CEO Andre Choulika to learn more about TALENs and his plans for getting more treatments like the one that helped Layla approved.

Cutting out faulty DNA

dna cut and paste crisprTALENs, the trademarked acronym that stands for "transcription activator-like effector nucleases" refers to proteins that can be used to make cuts in DNA. By programming the TALENs, researchers can use it to remove faulty DNA. Once the targeted DNA has been removed, it sends our natural DNA-repair system into panic mode, hopefully repairing the gene.

This is the method Cellectis used to treat an infant, identified only as Layla, who was born in London with leukemia.

After Layla was born, her doctors tried to treat her using chemotherapy and a bone-marrow transplant. When nothing worked, they reached out to Cellectis, who they knew had been working with TALENs, and asked if they'd try their experimental treatment on Layla using something called "compassionate use," which would allow them to try it outside of a clinical-trial setting. 

The company said yes.

After extracting some of Layla's blood and targeting some of her T-cells, special cells that play a critical role in our immune system, with the TALENs treatment, they were able to stimulate her immune system to attack her cancerous cells.

When she was tested a month later, all of Layla's blood was tumor-free. At that point, "you could consider the patient in complete remission," said Choulika. 

Since June, Layla has reportedly stayed in remission.

Lots of gene-editing methods are heating up right now, including CRISPR and TALENs

dnaRight now, three main gene-editing technologies are being explored for therapeutic use: CRISPR, TALENs, and zinc fingers. Of the three, zinc fingers was the first method to hit clinical trials. CRISPR, on the other hand, is new, advanced, and gaining traction fast.

With CRISPR, scientists choose which gene they want to modify, use a pair of "molecular scissors" to snip out the faulty one, and swap in a more desirable version. Both methods require using a bit of molecular material to guide the scissors to the correct gene so that the cell can repair the DNA. But while CRISPR uses a strand of easy-to-build RNA, or ribonucleic acid, to guide the scissors to the right location, TALENs uses an amino acid — a protein

From a business point of view, one of the main differences between CRISPR and TALENs is that CRISPR is being used by a handful of companies and institutions (which are now facing some patent disputes). TALENs is the proprietary technology of Cellectis, so there are even fewer people using it through licenses.

"We comprehensively have an interesting IP and license in this field," Choulika said. "That's what makes people shy off TALENs, we have a pretty dominant position."

Cellectis plans to start human trials in patients with acute myeloid leukemia sometime this year.

CHECK OUT: We got a glimpse at how the cancer test that Jeff Bezos and Bill Gates just invested in will work

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A massive project aims to identify millions of Vietnam War victims from their DNA

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Scientists in Vietnam are set to embark upon the largest mass identification project in history, using DNA analysis techniques developed in Germany to determine the identities of millions of people who died during the Vietnam War.

Though it is now more than four decades since hostilities ended, remains of those who lost their lives on the battlefield continue to turn up across the country, yet most of these have decomposed to such an extent that identification is not possible.

In an attempt to resolve this ongoing tragedy, the Vietnamese government has recruited German biotechnology firm Bioglobe to oversee a large-scale DNA profiling project, which is now ready to be rolled out.

Sequencing DNA from the dead

vietnam warThe first stage of the operation will being next month, when a group of Vietnamese scientists will travel to Hamburg to receive training on how to use special DNA analysis kits developed by another German firm called Qiagen.

This technique has been specially designed to meet the particular challenges of working with bones that have remained buried for over 40 years in the humid Vietnamese climate.

Under such conditions, DNA tends to decompose very rapidly, which makes it very difficult to obtain sufficient samples to create a profile of the individuals to whom these bones belonged, Nature reports.

The new approach will involve chemically breaking down the cells in bones in order to extract their genetic material. This will then be amplified using specialized enzymes to generate a sufficient amount needed to read the sequences and create a genetic profile.

At the same time, researchers hope to collect DNA samples from thousands of surviving Vietnamese civilians, enabling them to create a national genetic reference bank. Using this, they should be able to finally determine the identities of those corpses for which DNA profiles are obtained.

Millions of Vietnamese left unidentified

The Vietnam war raged from 1954 to 1975, and saw the Communist-backed North Vietnamese Army and National Liberation Front (or Viet Cong) take on the forces of the South Vietnam government and the U.S.A.

Estimates for the number of Vietnamese civilians and soldiers killed during the conflict are highly ambiguous, ranging from 1-3 million, although some reports suggest that the number could be as high as 3.8 million.

A major reason for this confusion lies in the fact that so many of those who died on the battlefield have not been identified. While only one U.S. soldier killed in the conflict remained unidentified at the end of the war, the vast majority of Vietnamese casualties have still not been formally confirmed or named.

However, the team behind the forthcoming project – which includes experts who helped to identify more than 20,000 victims of the Bosnian War – hopes to DNA profile around 1.4 million unidentified specimens by 2020.

READ NEXT: Experts just released a rough guide for advising parents about whether they should sequence their kids' DNA

SEE ALSO: Florida police used a smidgen of DNA to try to fully reconstruct an alleged criminal's face

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