Monthly Archives: June 2017

One in five ‘healthy’ adults may carry disease-related genetic mutations – Science Magazine

Posted: June 27, 2017 at 6:48 am

Two new studies suggest that one in five seemingly healthy people hasDNA mutations that puts him or herat increased risk for genetic disease.

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By Ryan CrossJun. 26, 2017 , 6:15 PM

Some doctors dream of diagnosing diseasesor at least predicting disease riskwith a simple DNA scan. But others have said the practice, which could soon be the foundation of preventative medicine, isnt worth the economic or emotional cost. Now, a new pair of studies puts numbers to the debate, and one is the first ever randomized clinical trial evaluating whole genome sequencing in healthy people. Together, they suggest that sequencing the genomes of otherwise healthy adults can for about one in five people turn up risk markers for rare diseases or genetic mutations associated with cancers.

What that means for those people and any health care system considering genome screening remains uncertain, but some watching for these studies welcomed the results nonetheless. It's terrific that we are studying implementation of this new technology rather than ringing our hands and fretting about it without evidence, says Barbara Biesecker, a social and behavioral researcher at the National Human Genome Research Institute in Bethesda, Maryland.

The first genome screening study looked at 100 healthy adults who initially reported their family history to their own primary care physician. Then half were randomly assigned to undergo an additional full genomic workup, which cost about $5000 each and examined some 5 million subtle DNA sequence changes, known as single-nucleotide variants, across 4600 genessuch genome screening goes far beyond that currently recommended by the American College of Medical Genetics and Genomics (ACMG), which suggests informing people of results forjust 59 genes known or strongly expected to cause disease.

Of the 50 participants whose genomes were sequenced, 11 had alterations in at least one letter of DNA suspected to causeusually rarediseases, researchers report today in The Annals of Internal Medicine. But only two exhibited clear symptoms. One was a patient with extreme sensitivity to the sun. Their DNA revealed a skin condition called variegate porphyria. Now that patient knows they will be much less likely to get bad sunburns or rashes if they avoid the sun and certain medications, says Jason Vassy, a primary care clinician-investigator at Veteran Affairs Boston Healthcare System and lead author of the study.

The team also found that every sequenced patient carried at least one recessive mutation linked to a diseasea single copy of a mutant gene that could cause an illness if two copies are present. That knowledge can be used to make reproductive decisionsa partner may get tested to see if they have a matching mutationand prompt family members to test themselves for carrier status. And in what Vassy calls a slightly more controversial result, the team examined participants chances of developing eight polygenic diseases, conditions that are rarely attributed to a single genetic mutation. Here, they compiled the collective effects of multiple genesup to 70 for type II diabetes and 60 for coronary heart diseaseto predict a patients relative risk of developing the disease.

Just 16% of study volunteers who only reported their family history were referred to genetic counselors or got follow-up laboratory tests. In the genome sequencing group, the number was 34%.

Some researchers have expressed concern that such whole genome screening will skyrocket medical costs or cause undue psychological harm. Aside from the initial cost of sequencing (which was covered by the study), patients who underwent the genomic screen paid an average of $350 additional in healthcare costs over the next 6 months, Vassy and colleagues reported. But contrary to fears of emotional trauma, neither the sequencing group nor the control group showed any changes in anxiety or depression 6 months after the study.

Vassy stresses that their study was small and needs follow-up, but it still impressed Christa Martin, a geneticist at Geisinger Health System, in Danville, Pennsylvania, who worked on the ACMGs recommendations for genome sequencing. I almost feel like the authors undersold themselves, she says. Many of their patients are making health behavioral changes, so they are using the information in a positive way.

The study was extremely well designed and very appropriately run, adds Barbara Koenig, a medical anthropologist who directs the University of CaliforniaSan Francisco Bioethics Program. But she still questions the assumption by many physicians, ethicists, and patient advocates that more information is always beneficial. It is just hard to know how all this information is going to be brought together in our pretty dysfunctional healthcare system.

Another paper published last week on the preprint server bioRxiv, which has not yet undergone peer review, yields similar results. Using whole-exome sequencing, which looks only at the protein-coding regions of the genome, Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine in Palo Alto, California, and colleagues found that 12 out of 70 healthy adults, or 17%, unknowingly had one or more DNA mutations that increased the risk for genetic diseases for which there are treatment or preventative options.

Both studies suggest that physicians should look at genes beyond the ACMGs 59 top priorities, Snyder says. He argues that whole-genome sequencing should be automatically incorporated into primary care. You may have some super-worriers, but I would argue that the information is still useful for a physician to have. Vassy, however, says that there isnt yet enough evidence to ask insurance companies to reimburse whole genome sequencing of healthy patients.

We like a quick fix and the gene is an important cultural icon right now, so we probably give it more power than it really has, Koenig says. But these are still really early days for these technologies to be useful in the clinic.

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Scientists discover DNA might not be that useful as part of your annual checkup – Washington Post

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Since the human genome was first sequenced in 2003, the immense promise of a technology that can revealthe 6 billion letters that make each of us who we are has loomed large asa way to revolutionize nearly every aspect ofhuman health, from what we know about ourselves the day we are born to how to stave offthe day that we die. Butthe ability to peer into the most fundamental biology of a human being has raised a slew of ethical questions and one that is even more simple: when is that information useful?

If people are healthy, the answer seems to be not very often according to a new, four-year clinical trial that exhaustively studied the use of genome sequencing of healthy adultsby a primary care doctor, anticipating the day that this information becomes part of everyones medical record. Learningtheir genomic results didn't appear to harm anyone, butalso didn't provide any clear short-term health benefits -- and it did drive up health spending compared to patients who simply got a detailed family history.

Contrary to longstanding ethicalconcerns that people will suffer psychological ill effects by learning things they don't want to know in their DNA, people did not experienceanxiety or depression in the six months after receiving the results. They racked upan average of $350 more in health care costs, although the relatively small number of people in the study meant the difference wasn't statistically significant. And while 11 in 50 of the people who were sequenced found out they carried rare genetic mutations that put them at risk of a disease, that information had few health implications for the majority of the patients, who showed no signs of the diseases.

In a few cases, patients might still develop those diseases in future, but that was far from certain. And, reflecting the fluid and evolving understanding of DNA, one mutation that was reported back to a patient was reclassified and was no longer considered a risk factor by the end of the study.

"My bottom line: big questions about the medical utility of whole genome sequencing in healthy adults, real concerns about the health care cost increases from doing whole genome sequencing in healthy adults, continued uncertainty about how the primary care docs are going to be able to handle this, and little comfort about the lack of harms if whole genome sequencing rolls out throughout the population," Hank Greely, director of Stanford Law Schools Center for Law and the Biosciences, said in an e-mail.

Every new medical invention brings with it excitement around novel capabilities, whether it is a 3-D mammogram or a new kind of joint implant. That always comes balanced against the question of how it should best be used. But genome sequencing has traveled a particularly long red carpet of hype. Its medical uses are unusually diverse and it has been plummeting in price; the cost of sequencing and interpreting the genomes in the study was about $5,315, but today an interpreted genome costs about $1,000, according to Jason Vassy, a primary care physician and researcher at the VA Boston Healthcare System and Brigham and Women's Hospital who led the study published in the Annals of Internal Medicine.

Add to that the fact this type of informationis being sold directly to people, whether it is Silicon Valleys 23andMe or a growing crop of startup companies that seek to offer consumers medical advice informed by their genome.

Today, in 2017, for a healthy individual, I dont recommend that any primary care physician order whole genome sequencing for that patient. But in a way this study kind of models what might be a more common scenario; the patients would bring this to us. The patient gets their whole genome sequenced; they ask us our opinion, Vassy said.

That doesn't mean people don't like learning about their biology. Renee DuChainey-Farkes, 63, runs a school in the Back Bay neighborhood of Boston. She eats a healthy diet and exercises, but was curious about her DNA and decided to sign up for the study. Her mother had heart disease and breast cancer, but she had also smoked. DuChainey-Farkes hoped she'd get into the group that got their DNA sequenced, but she was also nervous when she was picked.

"It was like, 'Uh-oh, what am I going to find out,'" DuChainey-Farkes said. "You can always say information is knowledge, but if its not the kind of information I want, keep it away."

She found out she hasan unusual blood type. She learned about her underlying risk for diabetes and obesity. She also found out that she has a rare gene mutation that causes a disease called variegate porphyria, which can cause blistering skin lesions and acute attacks that cause severe abdominal pain.

She has never had an acute attack, but had blistered skin as a child that was attributed to sunburn. She went to a specialist for a follow-up appointment to get baseline measurements done. That reassures her, because if she ever has an attack there will be information in her medical record about her risk for the disease.

Although Duchainey-Farkes enjoyed the testing and felt like she learned a lot about herself, it's less clear how useful the information is. She's a fair-skinned redhead and has always avoided the sun.

"Its kind of like this secret I have. I don't know what to do about it," said DuChainey-Farkes, who has been trying to get her young adult children interested in her findings. "I'm not going to get a really bad sunburn -- I'm definitely more conscious of that."

Misha Angrist, an associate professor at the Duke Social Science Research Institute who has had his genome sequenced twice said that the study shows just how much effort is needed to create the infrastructure to provide this kind of information to healthy patients. He said it also hints at how much more research it will take to really gain any conclusive evidence on whether genome sequencingis ultimately useful for healthy people.

"I imagine some people, especially people who are skeptical of this, will look at this paper and say, 'You know, this is a nothing-burger,'" Angrist said. "I guess I would probably say I think its more like anhors d'oeuvres of a meal with many courses."

Peter Ting, 60, signed up because he was curious whether the thyroid problems and diabetes that afflicted his family members lay in his future, too.

His results were less than a revelation. Ting found out he doesnt have a particular genetic predisposition for diabetes or thyroid disease, a fact that came as a relief. But the relief changes very little about his outlook: he still thinks he should continue his efforts to lose weight. Ting also found an explanation for a problem that wasnt really a problem. For his whole life, he has had trouble adjusting from bright to dark environments; hed be momentarily blinded, for example, when walking into a dark movie theater. When driving, hed close one eye as he approached a tunnel, then open it once he was inside, so that one half of his vision would be pre-adjusted to darkness.

Finding out the gene mutation doesn't change anything, other than learning his problem has a name: fundus albipunctatus.

Its good to know, you know, Ting said. Its not that important -- well, its important that I adapted already.

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DNA used to make nano computers – The Hindu

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Deccan Chronicle
DNA used to make nano computers
The Hindu
The DNA machines can relay discrete bits of information through space or amplify a signal, said Yonggang Ke, an assistant professor from Georgia Institute of Technology in the U.S. In the field of DNA-based computing, the DNA contains the information ...
DNA-powered machines to make molecular computersDeccan Chronicle

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Thanks to the power of human DNA, parallel lives come together after a 50 year wait – myfox8.com

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It was a different time.

Sixteen and pregnant is scary at any age, but in Pittsburgh, in 1966, it left a young lady with few choices.

Cathy Nelson found herself in a Catholic home for unwed mothers when she was that girl.

Cathy didnt know it, but her mother had breast cancer and that may have had a lot to do with Cathys mother insisting that she couldnt keep the baby.

She, like I did, wanted her to have the best life she could and that wouldn't have been with me, admits Cathy.

That baby grew up happy and healthy in an adoptive family.

When I was 17, my dad, every night before I went to bed, he told me he loved me, says Karen Thurbon. And I knew they did but there are just some things that they can't answer.

Thats the power of human DNA.

And it was DNA that eventually led Karen to find her birth mother. Both Karen and Cathy were looking for each other for years.

Everybody has a right to know where they came from, Karen says, emphatically.

But they ran into legal roadblocks: I called an attorney in the town where I grew up I tried to have that done and he told me that was none of my business, says Karen.

They also had other hurdles to overcome, including the fact that Karens birth certificate had the wrong date on it.

Cathy was searching on the 24th, I was searching on the 23rd. If anything came up on any other day, I just scrolled past it, never gave it any thought, says Karen and, just for the record, she was born on Christmas Eve.

But both kept up the search for years.

I knew it was going to be hard and I didn't know what steps I had to take, says Karen, but I just knew I never wanted to give up.

Cathy would talk to friends about Karen, all the time, and they would ask things like, Don't you ever wonder about her?' And I said, 'I wonder about her, every day, I mean, there's not a day that goes by that I don't think about her.' And I said, 'If I could just see her and know she's okay - she doesn't have to know who I am - but if I could just see her and know that she's okay and that she's happy, that's all I want.

They only had tangential luck until Karens husband uploaded her DNA information to a website that allows that MyHeritage.com. It was then, that it all came together.

In this edition of the Buckley Report, see their parallel lives come together after a 50-year wait.

I don' think anyone should go 50 years without their child, it just shouldn't happen, says Cathy.

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Limit DNA tests – Scranton Times-Tribune

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Innocence Project lawyer Vanessa Potkin hugs Alfred Swinton, a man once suspected of being a serial killer, after a Superior Court judge Thursday in Hartford, Connecticut, approved a new trial in the 1991 murder of Carla Terry after DNA testing proved that he could not have made a bite mark that was a key piece of evidence. A pending Pennsylvania bill to expand DNA testing should exclude mandatory use of the procedure when defendants claim it would exonerate them. (Mark Mirko/Hartford Courant via Associated Press)

DNA testing is among the most powerful tools available to law enforcement, so it makes sense that many state legislators want to expand its use.

A pending bill to that effect is overly broad, however, and should be scaled back a bit to focus it on the most likely suspects. Doing so also would solve the other major problem with the legislation paying for it.

Sponsors deserve credit for limiting the bill to mandatory DNA testing only of those convicted of crimes. Some advocates originally wanted to test anyone merely charged with certain classes of crimes, which runs counter to the constitutionally mandated presumption of innocence.

DNA testing occurs now for people convicted of violent crimes and other major felonies. The results are cross-checked against DNA databases for unsolved crimes.

The bill would expand the process to anyone convicted of a first-degree misdemeanor or 15 specific misdemeanors. Misdemeanors often are serious crimes; Pennsylvania classifies as high-level misdemeanors some crimes that other states classify as felonies.

But as written, the bill would mandate testing for up to 40,000 people a year, at a cost of about $3 million for which the bill makes no account.

Lawmakers should scale back the mandatory testing to cover the most serious crimes, thus focusing on the most likely sources of breaks in other cases while controlling costs.

To make the use of DNA testing truly as effective as possible, lawmakers should mandate its use when defendants claim it would exonerate them. In those cases, after all, the risk is assumed by the defendant.

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Secrets of the Genome: How pythons regenerate their organs – Technology Networks

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A Burmese python superimposed on an analysis of gene expression that uncovers how the species' organs change after feeding. Credit: Todd Castoe

Evolution takes eons, but it leaves marks on the genomes of organisms that can be detected with DNA sequencing and analysis.

As methods for studying and comparing genetic data improve, scientists are beginning to decode these marks to reconstruct the evolutionary history of species, as well as how variants of genes give rise to unique traits.

A research team at the University of Texas at Arlington led by assistant professor of biology Todd Castoe has been exploring the genomes of snakes and lizards to answer critical questions about these creatures' evolutionary history. For instance, how did they develop venom? How do they regenerate their organs? And how do evolutionarily-derived variations in genes lead to variations in how organisms look and function?

"Some of the most basic questions drive our research. Yet trying to understand the genetic explanations of such questions is surprisingly difficult considering most vertebrate genomes, including our own, are made up of literally billions of DNA bases that can determine how an organism looks and functions," says Castoe. "Understanding these links between differences in DNA and differences in form and function is central to understanding biology and disease, and investigating these critical links requires massive computing power."

To uncover new insights that link variation in DNA with variation in vertebrate form and function, Castoe's group uses supercomputing and data analysis resources at the Texas Advanced Computing Center or TACC, one of the world's leading centers for computational discovery.

Recently, they used TACC's supercomputers to understand the mechanisms by which Burmese pythons regenerate their organs including their heart, liver, kidney, and small intestines after feeding.

Burmese pythons (as well as other snakes) massively downregulate their metabolic and physiological functions during extended periods of fasting. During this time their organs atrophy, saving energy. However, upon feeding, the size and function of these organs, along with their ability to generate energy, dramatically increase to accommodate digestion.

Within 48 hours of feeding, Burmese pythons can undergo up to a 44-fold increase in metabolic rate and the mass of their major organs can increase by 40 to 100 percent.

Writing in BMC Genomics in May 2017, the researchers described their efforts to compare gene expression in pythons that were fasting, one day post-feeding and four days post-feeding. They sequenced pythons in these three states and identified 1,700 genes that were significantly different pre- and post-feeding. They then performed statistical analyses to identify the key drivers of organ regeneration across different types of tissues.

What they found was that a few sets of genes were influencing the wholesale change of pythons' internal organ structure. Key proteins, produced and regulated by these important genes, activated a cascade of diverse, tissue-specific signals that led to regenerative organ growth.

Intriguingly, even mammalian cells have been shown to respond to serum produced by post-feeding pythons, suggesting that the signaling function is conserved across species and could one day be used to improve human health.

"We're interested in understanding the molecular basis of this phenomenon to see what genes are regulated related to the feeding response," says Daren Card, a doctoral student in Castoe's lab and one of the authors of the study. "Our hope is that we can leverage our understanding of how snakes accomplish organ regeneration to one day help treat human diseases."

Making Evolutionary Sense of Secondary Contact

Castoe and his team used a similar genomic approach to understand gene flow in two closely related species of western rattlesnakes with an intertwined genetic history.

The two species live on opposite sides of the Continental Divide in Mexico and the U.S. They were separated for thousands of years and evolved in response to different climates and habitat. However, over time their geographic ranges came back together to the point that the rattlesnakes began to crossbreed, leading to hybrids, some of which live in a region between the two distinct climates.

The work was motivated by a desire to understand what forces generate and maintain distinct species, and how shifts in the ranges of species (for example, due to global change) may impact species and speciation.

The researchers compared thousands of genes in the rattlesnakes' nuclear DNA to study genomic differentiation between the two lineages. Their comparisons revealed a relationship between genetic traits that are most important in evolution during isolation and those that are most important during secondary contact, with greater-than-expected overlap between genes in these two scenarios.

However, they also found regions of the rattlesnake genome that are important in only one of these two scenarios. For example, genes functioning in venom composition and in reproductive differences distinct traits that are important for adaptation to the local habitat likely diverged under selection when these species were isolated. They also found other sets of genes that were not originally important for diversification of form and function, that later became important in reducing the viability of hybrids. Overall, their results provide a genome-scale perspective on how speciation might work that can be tested and refined in studies of other species.

The team published their results in the April 2017 issue of Ecology and Evolution.

The Role of Supercomputing in Genomics Research

The studies performed by members of the Castoe lab rely on advanced computing for several aspects of the research. First, they use advanced computing to create genome assemblies putting millions of small chunks of DNA in the correct order.

"Vertebrate genomes are typically on the larger side, so it takes a lot of computational power to assemble them," says Card. "We use TACC a lot for that."

Next, the researchers use advanced computing to compare the results among many different samples, from multiple lineages, to identify subtle differences and patterns that would not be distinguishable otherwise.

Castoe's lab has their own in-house computers, but they fall short of what is needed to perform all of the studies the group is interested in working on.

"In terms of genome assemblies and the very intensive analyses we do, accessing larger resources from TACC is advantageous," Card says. "Certain things benefit substantially from the general output from TACC machines, but they also allow us to run 500 jobs at the same time, which speeds up the research process considerably."

A third computer-driven approach lets the team simulate the process of genetic evolution over millions of generations using synthetic biological data to deduce the rules of evolution, and to identify genes that may be important for adaptation.

For one such project, the team developed a new software tool called GppFst that allows researchers to differentiate genetic drift a neutral process whereby genes and gene sequences naturally change due to random mating within a population from genetic variations that are indicative of evolutionary changes caused by natural selection.

The tool uses simulations to statistically determine which changes are meaningful and can help biologists better understand the processes that underlie genetic variation. They described the tool in the May 2017 issue of Bioinformatics.

Lab members are able to access TACC resources through a unique initiative, called the University of Texas Research Cyberinfrastructure, which gives researchers from the state's 14 public universities and health centers access to TACC's systems and staff expertise.

"It's been integral to our research," said Richard Adams, another doctoral student in Castoe's group and the developer of GppFst. "We simulate large numbers of different evolutionary scenarios. For each, we want to have hundreds of replicates, which are required to fully vet our conclusions. There's no way to do that on our in-house systems. It would take 10 to 15 years to finish what we would need to do with our own machines frankly, it would be impossible without the use of TACC systems."

Though the roots of evolutionary biology can be found in field work and close observation, today, the field is deeply tied to computing, since the scale of genetic material tiny but voluminous -- cannot be viewed with the naked eye or put in order by an individual.

"The massive scale of genomes, together with rapid advances in gathering genome sequence information, has shifted the paradigm for many aspects of life science research," says Castoe.

"The bottleneck for discovery is no longer the generation of data, but instead is the analysis of such massive datasets. Data that takes less than a few weeks to generate can easily take years to analyze, and flexible shared supercomputing resources like TACC have become more critical than ever for advancing discovery in our field, and broadly for the life sciences."

This article has been republished frommaterialsprovided byUniversity of Texas at Austin. Note: material may have been edited for length and content. For further information, please contact the cited source.

Reference

Adams, R. H., Schield, D. R., Card, D. C., Blackmon, H., & Castoe, T. A. (2016). GppFst: Genomic posterior predictive simulations of FST and dXY for identifying outlier loci from population genomic data. Bioinformatics, 33(9), 1414-1415.

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Whole Genome Tests’ Risks And Benefits : Shots – Health News : NPR – NPR

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Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results. Cultura RM Exclusive/GIPhotoStock/Getty Images/Cultura Exclusive hide caption

Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results.

Advances in technology have made it much easier, faster and less expensive to do whole genome sequencing to spell out all three billion letters in a person's genetic code. Falling costs have given rise to speculation that it could soon become a routine part of medical care, perhaps as routine as checking your blood pressure.

But will such tests, which can be done for as little as $1,000, prove useful, or needlessly scary?

The first closely-controlled study aimed at answering that question suggests that doctors and their patients can handle the flood of information the tests would produce. The study was published Monday in Annals of Internal Medicine.

"We can actually do genome sequencing in normal, healthy individuals without adverse consequences and actually with identification of some important findings," says Teri Manolio, director of the division of genomic medicine at the National Human Genome Institute, which funded the study. Manolio wrote an editorial accompanying the paper.

"There's a lot of excitement and a lot of hope about this new technology and how it's going to revolutionize medicine," says Jason Vassy, a researcher at the VA Boston Healthcare System and the Brigham and Women's Hospital, who led the study. "But at the same time, there are a lot of fears and a lot of concerns."

Vassy acknowledges that routine genome sequencing could overwhelm doctors and patients with confusing and sometimes alarming information, leading to anxiety and stress, as well as expensive and sometimes dangerous follow-up testing.

So he and his colleagues sought to find out what routine testing would look like in a general medicine setting. They studied 100 healthy, middle-aged patients whose primary care physicians randomly asked them if they were interested in having their genomes sequenced.

Half of the volunteers had their DNA scanned for genetic variations that could cause nearly 5,000 rare genetic diseases as well as other genetic markers. The other half answered questions about diseases that ran in their families the traditional way of spotting inherited risks.

One of the volunteers was Renee Duchainey-Farkes, 63, who runs an elementary school in Boston.

"I'd always been kind of fascinated by genome studies," Duchainey-Farkes says. "So I was more than excited, but at the same time now nervous because it was like, 'Well, do I really want to know if things aren't great?'"

Among the 50 volunteers who got sequenced, the researchers found that about 1 in 5 had a variant in their genome that was associated with a rare, sometimes serious genetic disease.

"That was higher than we expected to find," Vassy says. "These were generally healthy middle-aged adults who had gone their entire life and didn't think they had any genetic diseases."

Most of them were fine, but what happened next surprised the researchers: Neither the volunteers nor their doctors overreacted.

"We were pleasantly surprised to see that primary care physicians were able to manage their patients' genetic results appropriately," Vassy says. "And patients are generally able to handle this information. It does not cause an increase in anxiety or an increase in depression."

Many of the patients also received useful information, the researchers reported.

Duchainey-Farkes says she discovered why she got odd rashes and bad sunburns. It turns out she's had what so far has been a very mild version of variegate porphyria, a rare skin disease. As a result, her doctor gave her a list of drugs to stay away from because they could aggravate the condition.

"So I feel that was a really positive outcome," Duchainey-Farkes says.

She also found out she may be prone to diabetes, so she's trying harder to watch her weight and eat better, she says.

Finance professor Irena Vodenska, 46, of Brookline, Mass., learned she was carrying a genetic variation that could put her at risk for heart problems. Follow-up tests found nothing wrong with her heart. But Vodenska is still glad she did it.

"It made me think," Vodenska says. "It satisfied my curiosity, and it made me change some things in my life." She walks instead of drives whenever she can now, and she tries to eat better.

Manolio says those in the study who learned they were carrying variations associated with rare diseases could potentially use that information when planning their families.

Still, others remain skeptical.

"There's a lot of, in my opinion, highly misplaced enthusiasm for doing genomic sequencing in the general population," says James Evans, a geneticist at the University of North Carolina, Chapel Hill. "And this study shows that its routine provision, in that context, is vastly premature and likely lead to more mischief than benefit."

Others fear that people who get sequenced could be subject to discrimination.

"That information is accessible by third parties who can require access to it," says Mark Rothstein, who directs the University of Louisville's Institute for Bioethics, Health Policy and Law. For example, he says, "applying for life insurance or disability insurance or long-term care or other things."

Vassy and Manolio acknowledged the patients in the study were more affluent and better educated than the general populace. The doctors also received extra training in interpreting genetic information. And they stressed more research is needed before sequencing becomes commonplace.

But some private companies have already are starting selling genome sequencing to people who are really curious about what secrets may be hiding in their DNA.

"We think that whole genome sequencing will be part of the foundation of medical practice much sooner than people are thinking," says Brad Perkins, the chief medical officer at Human Longevity, Inc., one of the companies selling the test.

"It's a completely new way of looking at things," agrees Mirza Cifric, CEO of Veritas Genetics. "By having your whole genome sequenced, you have an asset for life. You have a digitized version of yourself that you can go back to for a variety of reasons."

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Advanced Potions: The Top 10 Biotechs Brewing at Oxford – Labiotech.eu (blog)

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The UK is home to acollection of hotspots known as The Golden Triangle for biotech. This week, we take a look at the top biotechs in one vertex, Oxford.

Ahh, Oxford.The image of Hogwarts for fans of the Harry Potter films and home to one of the worlds best all-around academic institutions, Oxford University. Though it ranksjust abit behind its counterpart at Cambridge, the university gave rise to some of the most promising biotechs in Europe, including two unicorns and a number ofchallengers.

Small wonder that bigger industry players are staking out territory in Oxfords biotech scene! German CRO Evotec recently launched Lab282with Oxford Sciences Innovation to act as a bridge between academia and industry. Then in January, Novo Nordisk spent 135M to start a diabetes research centerat the university.

Most of the biotechs are located south of Oxford at Milton Park check em out below!

It may yet be too early to call Immunocore a success story, but the immuno-oncology company has made a name for itself as a biotech unicorn since it raised $320M (293M) in the largest private round in Europe on record. Though CBO Eva-Lotta Allen told me that all immuno-oncology drugs are still experimental, her companystechnology seems to have the confidence of the likes of Neil Woodford and the Baker Brothers convinced. So what is it?

Immunocore relies on its ImmTAC platform, which strips down TCRs to bi-specific molecules and couples them to an anti-CD3 system to activate a T cell response and eradicatetumor cells. The majority of the pipeline is in Phase I, but Immunocores lead candidate IMCgp100 has made it to the pivotal stage in uveal melanoma and cutaneous melanoma. Beyond immuno-oncology, the company is looking to expand into infectious and autoimmune diseases.

Oxitecs founder and CEO Hadyn Parry waded into the thorny issue of GMOs and engineered sterility to stem epidemics of mosquito-borne diseases like Zika, as well as malaria and dengue. As he explained at Refresh earlier this month,Were not using toxic chemicals to fight these diseases but were using themosquitoto fight itself.

The company has since been able to reduce mosquito populations of the Aedes aegypti species by an incredible80-90% by releasing Oxitecs so-calledFriendly Aedes mosquito in field trials in Brazil, the Cayman Islands, the US or India.The results from this technology sealed Oxitecs exitto become part of Intrexon for 146M ($160M) in 2015.

After closing last years largest fundraising round of 120M, Oxford Nanopore has entrenched its position as a British biotech unicorn with nearly 500M raised in total since it was founded in 2005. Its MinION pocket sequencer, which was just used to sequence whole human genomes, has the potential to democratize genome sequencing and disrupt the market and you know the company isserious when onegets hit witha lawsuit from Illumina, as Oxford Nanopore did in 2016.

The biotechs device hinges on a nanopore that directly reads a DNA strand in an electrical, single-molecule and label-free process.CEO Gordon Sanghera told methat the companys R9-Series nanopore is able to read more than one billion bases per 48-hour run with up to 97% accuracy.The company has designed the MinION for broader use,targetingtheclinical diagnostics niche with aFlongle attachment; but the device isalsofinding use in academic research.

PsiOxusworks on oncolytic viruses that turn those so-called cold tumors hot by stimulating an immune response, as CEO John Beadleexplained to us. Theplatform, Tumor-Specific Immuno-Gene Therapy (T-Sign), uses a viral vector to deliver anti-cancer therapeutic transgenes to tumoral cells. In particular, NG-348 encodes the gene forMembrane-integrated T-Cell Engagers (MiTEs), T-cell activating ligands located on the cell surface.

This technology wonPsiOxusa 850M deal with BMSlast December, after a whopping 34.7M (25M)Series C propelled by Neil Woodford, GSKs VC arm and Imperial Innovations in 2015.

PsiOxus isnt scientific co-founder Leonard Seymours only company healso co-founded Oxford Genetics.As CEO & co-founder Ryan Cawood told me, the companywas born when the teamfound thattesting gene therapy plasmidswasincreasingly tough because we justcouldnt make them. Typically, theyre built from an amalgam of sources with no standardization.

So, Oxford Genetics set out to improve DNA design with its synbio-based SnapFast platform, and the team believes in its potential to improve cell and gene therapies through this approach to personalised medicine. Backers like Innovate UK, which handed the company a1.61M (1.8M) grant in January, are buying in.

Though still in its infancy, SpyBiotechmade a splashydebut earlier this year with a4M (4.7M)seed round backed by none other than Googles venture capital arm, GV.Itstechnology hinges on the bonds betweenstrep throat bacteria, Streptococcus pyogenes: the founding academics engineered the bacteria,nicknamedSpy, to make the connection without disrupting the antigen or virus-like protein (VLP)folding.

Vaccinesare tailored to a specific disease by tetheringa VLP to an antigen, but the existing method ofgenetic fusionis costly and unreliable.SpyBiotechs method opens the door to a new generation of more robust vaccines spanning a broad range of diseases that the legendary Greg Winter says we so desperately need.

OxStem is developing cell programming therapies that could treat a range of usually age-related conditions, including dementia, heart failure, macular degeneration, diabetes and cancer, based on the research of spin-off sultansKay Davies, Angela Russell and Steve Davies. In May 2016, the company claimed the title of Largest Fundraising for Academic Spin-Out in a 21.4M roundto which Craig Venters Human Longevity fund contributed.

Oxstems strategy uses a new class of small molecules that can modulate or stimulate endogenouscellsto awakendormant cellular processes. These includerepairand stem cell functions. Since the range of applications is so broad, OxStem has had plans to spin out a number of daughter companies,OxStem Cardio, OxStem Neuro, OxStem Ocular andOxStem Oncology, which is most advanced.

Since we first met KarusTherapeuticsin 2015 to talk about their small molecule therapies for cancer and inflammatory disease, the company has entered the immuno-oncology fray. Its now developing a PI3K-p110/ inhibitorto inhibit cancer cell growth and metastasis: KA2237begana Phase I clinical trial last fall in partnership with MD Anderson Cancer Center, and this lead candidate could be a first-in-class small molecule to fight tumor growth and cancer metastasis.

Since it was founded in 2005, Karus has raised nearly 11M, excludingthe yet undisclosed remainder ofits Series B. That might not seem like a lot, but the company has established itself as solid enough to grow its headcount to at least a dozenemployees to inch its programs towards the clinic.

Oxford BioMedicais one of those companies that has been around for ages, having apparently reached a sustainable equilibrium.It was founded in 1995 to developlentiviral vectors for gene and cell therapy applications, anditwent public in 2008; its market cap now clocks in at164M (186M). Most recently, Orchard Therapeutics signed on as a partner to use Oxford BioMedicas vectors in its ex-vivo stem cell gene therapies for rare diseases.

While itsmodus operandiis to out-license its technology, Oxford Biomedica is receiving its fair share of glory. The companys technology is an important component of Novartis stellarCAR-T therapy, CTL-019. The drug from this Swiss pharma wowed ASH attendees last winter with its 82% response rate in a Phase II trial for B-cell acute lymphoblastic leukaemia (ALL) and may very well winthe race to be first to market in CAR-T.

Sometimes referred to as the sister company to Immunocore, Adaptimmune deserves its own attention as a potential immuno-oncology success story. This biotech uses whole adaptive T cells from patients rather than biological molecules derived from them. Notably, while Immunocore remains private, Adaptimmune went publicin 2015 with an huge IPO of $191M (157M) on NASDAQ, when it was listed as one of the most volatile of the notoriously volatile biotech stocks.

Though its stock is now less than a third of its original value after some procedural hiccups that led to a partial hold, the company has thesupport of Big Pharma player GSK and one of the largest headcounts on theUK biotech scene. With its 312 employees and a respectablemarket cap of427M(488M), even if thats a third of what it once was, Adaptimmune is more than holding its own as one of the top biotechs not just in Oxford but the UK.

Images via Oleksandr Kostiuchenko, MR.Travel, CI Photos, Digital Photo, sumroeng chinnapan, isak55, Visuta, mspoint, bluebay, GiroScience, Maryna Olyak, Tonhom1009/shutterstock.com

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Tiny Little Sperm Harnesses Are The Cutest Thing Ever. – Longevity LIVE

Posted: at 6:46 am

Okay, so seriously, imagine this.

In order to help cure cancer, researchers are working with microscopic 3D printers to make tiny little harnesses for sperm, like one little harness per sperm.(I presume one size fits all but I need to check.) And what do these sperm harness actually do? Well they help deliver the sperm, now soaked incancer-curingchemicals, far into the nether-regions of women who need the medical treatment.

The spermharnesses actually have tiny little micromotors Im telling you this is crazy but true stuff.

It all started because, as you may well know, the vagina, cervix and uterus are considered a harsh environments for medicine. Apparently, this environmentmakes drug delivery difficult and gynecological cancers notoriously hard to treat. So after years of study (and who even thought of this in the first place)researchers believe the answer to this may lie in sperm. I can hear men all over the world rejoice, high five each other and celebrate their contribution to cancer research.

Be that as it may gentlemen, this study isntjust the latest debate in the war of the sexes its actually an incredible breakthrough. Scientists at the Institute of Nanosciences in Germany realised that while the natural chemistryof our lady parts tends to dilute most forms of treatment before they can reach the site of the cancer, the human male naturally produces something which thrives in this environment.

This promising study suggests that sperm may be the future of gynecological cancer treatment. Awelcome developmentin an area where an estimated 275,000 women die every year from cervicalcancer, 287,000 from uterine cancer and 140,000 from ovarian cancer.

Just because you have access to a 3D printer doesnt mean you can make a sperm harness. Trust me. I know.

Mariana Medina-Snchez and her team in Germany led a study looking into the unique drug delivery benefits human sperm could provide. They found that when sperm is submerged in an active ingredient known to treat cancer, it absorbs large doses.

The sperm can then be assembled into microscopic, 3D printed, mechanical harnesses, forming sperm-hybrid micromotors (trying saying that 10 times fast) In something out of a science fiction movie the sperm is then directed towards the tumor through the use of external magnetic fields.

How fast can a sperm powered by a micromtor and an external magnetic field actually go? I have no idea.

Once the sperm reaches its destination the harnesses relinquish their grip and the sperm is free to swim towards its target. In theory, the sperm can then burrow deeper into the cancerous tissue and expose more cells to the treatment than ever before.

During experimentation the team noticed that the sperm-hybrid micromotor reduced cancerous cells by 87% in just 72 hours.

The sperm were found to not only protect the drug against dilution, but also not to trigger the immune system. Triggering of the immune systemhas been a challengein previous studies where, for example, treatment was delivered usingbacteria.

Further studies are needed to perfect this method of treatment no gentlemen, at this point, no further volunteers are currently needed to assist. But, the preliminary results hint at a better future one where you will be more equipped to fight gynecological cancer and perhaps other diseases as well (watch the below video for more details).

If you are interested in reading more about this amazing technology, click here for MarianaMedina-Snchezs study.

I still want to know who was first sitting around the lab and said, hey I know what we can do, lets get some sperm, a tiny microscopic 3D printer and then we will make harnesses for micromotors.

That person? They are a genius.

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Democratisation of data can lead to organisational problems, says expert panel – www.computing.co.uk

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Democratising data - making information available to all staff at an organisation - takes power away from managers and risks exposing a misalignment of objectives.

That's the opinion of Paul Fitzpatrick, consultant at Human Longevity, speaking at a recent Computing IT Leaders Forum.

"The alignment of objectves is key to an organisation," said Fitzpatrick. "And where objectives aren't aligned, data can make that situation more transparent. Culturally it's a big leap if everyone has access to the same dashboards. With data comes control, so [democratising data is] putting control in hands of people not executives. If you do that, where there's misalignment of objectives, it will become more obvious," he argued.

Jason Nathan, group MD for data at data analysis firm Dunnhumby explained that people will interpret data in ways favourable to themselves and not necessarily the company, if their objectives aren't properly set.

He used the example of supermarkets, and the complexities inherent even in what seems to outsiders to be trivial data.

"It all boils down to the definition around the data," said Nathan. "It may sound like an extrordinary thing to say, but even something like knowing how much did this product sell by value over this week is really hard. How much time do you allow for returns? What about promotions? How much value do you ascribe to these products from multi-buy packs? People try to game the system in their favour if you allow free reign at a granular level.

"In any job, you see people who act at times in the company's best interests, and at times in their own. At a well managed company people always act in their best interests, which happens to align with the company's. But that's a nirvana which is usually unattainable."

Nathan continued, explaining that when fully democratising data at its most granular level, the interpretation placed upon that data causes a lot of friction.

"As soon as you place a layer of interpretation on top, you're not democratising that data, you're allowing someone else to game it, and you're not allowing unfettered access," he said.

"Around 1832 we had universal suffrage. We need the same thing for data," said Bob Tulloch, technical director at Walnut Medical.

Gopal Sharma, global practice head - strategy and architecture at Liaison explained that organisations need to create an enterprise data layer into which everyone has visibility.

"This will then deskill the roles themselves by establishing business rules and logic around data validation, that's the opportunity. Make that data available for anyone to use, analyse and create algorithms for. That requires a very visible and engaged leadership, and each organisation needs to look inwardly at the blockers they have."

Earlier the panel had argued that Google can sometimes lose interest in some aspects of its cloud offering and not keep them updated as much as they should.

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