Monthly Archives: August 2017

Welcome to SpaceX City: The Ultimate Startup – PCMag India

Posted: August 4, 2017 at 12:51 pm

The rise of the private space industry may be what's needed to kickstart humans' journey to the final frontier; the pursuit of profit is often a fantastic spur for innovation. Just how this will all play out is anyone's guess, but the wheels are most definitely in motion.

In September 2016, SpaceX CEO Elon Musk took the stage at the annual International Astronautical Congress conference in Guadalajara, Mexico, to outline his vision for invading Mars. The plana combination of technical specificity and operational vaguenesswould make us a multi-planetary species by pre-stocking Mars via unmanned supply missions that leave Earth every 26 months when the two planets align in their respective orbits.

These initial one-way trips will take around 80 days with today's technology, but Musk believes they can eventually be shortened to 30-day voyages. Once Mars is properly supplied with a bounty of necessary Earth stuff, humans will blast off for the Red Planet. If all goes according to plan, SpaceX's first robotic landers will touch down on Mars in the early 2020s.

Musk's interplanetary blueprint received a lot of attention, but it's not exactly unprecedented. In the last century, earthlings have proposed space colonization plans of varying degrees of seriousness. In the 1960s, Wernher von Braun, the father of rocket science and first director of NASA's Marshall Space Flight Center, predicted that a future incarnation of the Saturn rocket would begin sending humans to Mars by the 1980s.

Around the same time, the Soviets were developing plans to construct a moon base known as "Zvezda," also by the 80s. Then the Cold War lost its urgency, and those theoretical missions collided with economic reality. Since then, a few private space organizations have formulated colonization plans of their own, but they've resulted in little more than a few sparsely attended conferences here on Earth.

Yet even after all those decades of space disillusionment, Musk's plan feels refreshingly tangible. Perhaps it's because he has a well-earned reputation as a closer, an industrial-scale macher who sets bold goals and has the technical, financial, and operational prowess to make them a reality. But space colonization is starting to feel less like inconsequential space-nerd pondering and more like something that can be turned into a viable space-nerd business.

Given the majesty of discovery and the fact that colonization is our best insurance policy should the Earth get into a bar fight with an asteroid (just ask the dinosaursoh wait, you can't), it might seem odd to focus on space's economic promise. But when it comes to making money up there, the sky is literally not even the limit. Space is the ultimate technology platform, teeming with opportunity and ripe for ethically uncomplicated exploitation. Some have predicted that it will be the first industry to produce self-made trillionaires. The privatization of space and the establishment of private outposts far from the watchful eye of mother Earth might prove to be one of history's most important developments.

SpaceX isn't the only organization going to Mars. NASA has scheduled a manned mission to orbit ol' Red in 2033, followed by "boots on Mars" in a subsequent but as-yet-undefined mission.

The agency's Martian plans haven't received nearly as much attention as those from SpaceX. This is probably because NASA's post-Apollo record of manned exploration has been an evolving disappointment, with timelines shifting from administration to administration and budget to budget. But perhaps that lull was just part of the process the science had to go through before it got real.

Trailblazing scientific inquiry (which NASA has spent the last half century absolutely crushing) doesn't come with the expectation that it will immediately result in anything usefulpragmatic applications built on scientific discovery typically come later, sometimes decades down the line. Nobody could have guessed that quantum physics would one day bring about the iPhone, or that networking research computers over telephone lines would eventually lead to Twitter.

Of course, in order for a science to become a business, it needs to make money. And lots of money will be necessary to get to Mars. A recent Wall Street Journal expose questioned SpaceX's finances and its ability to pay for the Mars project (the company was dealt a serious blow following a pair of launch failures in June 2015 and September 2016). But that same report revealed SpaceX's plans to supplement the costs of its "Interplanetary Transport System" by becoming a satellite-based ISP. The company has also entered the space tourism game with a deal to launch a pair of unnamed space tourists around the moon next year for an undisclosed (but surely hefty) fee.

It's a viable plan; over the past 16 years, various people of means have paid tens of millions of dollars to Russia's Federal Space Agency for tickets to the International Space Station, including video game pioneer Richard Garriott, Cirque du Soleil founder Guy Laliberte, and the man responsible for Microsoft Office, Charles Simonyi (twice).

Musk has promised to reveal more about how the company will fund its Martian aspirations soon. But to be sure, there will be lots of ways to make money in spacemost we probably haven't even imagined yet. A more pressing question is who will get there first.

Like SpaceX, Jeff Bezos's Blue Origin aims to slash the cost of launches by developing reusable rockets and supplementing the effort through tourism. Richard Branson's tourist venture Virgin Galactic was recently joined by a sibling B2B company Virgin Orbit, which will launch small satellites into orbit. Paul Allen's Stratolaunch Systems recently unveiled a 385-foot wingspan plane from which it will launch rockets from high altitudes, starting in 2020.

Like traditional aerospace powerhouses (Orbital ATK, Boeing, and Lockheed Martin), many of these new space startups depend on contracts from NASA, the Department of Defense, and other public agencies. But unlike those old-school aerospace titans, these new startups have an aura of urgency, innovation, and gleeful disruption. It's perhaps not surprising that many have been seeded by libertarian-leaning Silicon Valley money monsters looking to stake their claim in this most disruptive of technologies (it also doesn't hurt that this particular technology has the added allure of being super sci-fi cool).

Given the current state of space tech, imagining anything resembling A Space Odyssey coming about in our lifetimes may be difficult. But history shows that big technological paradigmshome computing, the internet, mobile techhave similar origin stories: They quietly emerge from the ether as glorified science projects no one really takes seriously before finding their groove and exploding exponentially.

The rush of space startups already amassing concrete engineering accomplishments suggests that we may be witnessing the beginning of one of these exponential ascensions, albeit at a slower pace. Space is the hardest and most dangerous technological barrier humanity has ever had to overcome, but there's very little reason to think we won't get there. The lure of history and potential for obscene profit are just too tempting for someone not to figure it out.

Planetary Resources is a Redmond, Washingtonbased startup with a unique business model: mining asteroids for profit. The company has been seeded by a cadre of Silicon Valley elites (Google's Larry Page and Eric Schmidt, as well as X-Prize co-founder Peter Diamandis, among them) and already has plans to send a swarm of unmanned, river-tube-size "Arkyd 200" satellites to a nearby asteroid in 2020 to prospect it for desired materials.

The company stays afloat via corporate and government contracts and licensing of its proprietary technology. In addition to developing prospecting satellites, the company is working with partners on space-based 3D printers that will shape construction-grade metals like iron, nickel, and cobalt, which are abundant in asteroids. These theoretical printers will be able to build machines, tools, and possibly even habitats and ships directly in space, therefore avoiding the great expense of shipping the materials from Earth.

But perhaps more important, Planetary Resources will be prospecting for water. Once water is mined from an asteroid or comet (probably in solid ice form), electric currents generated by space-based solar panels can break it down to its atomic building blocks. The hydrogen and oxygen can then be recombined into a powerful propellant (i.e., rocket fuel), establishing a network of celestial gas stations and making the solar system a lot smaller.

Planetary Resources takes advantage of technology previously designed for scientific missions, but it is an unabashedly for-profit enterprise.

"You start an asteroid-mining company with the support of a lot of visionary people who have the capacity to take some risk in their business ventures, but it was certainly their demand that we create a businessnot just something that is spending money for a very long time," CEO (and former NASA engineer) Chris Lewicki told me last year. With the Arkyd 200 expeditions, "We're not trying to figure out how old the solar system is or find out how we all came to be; we're asking a very simple business question of, 'Is there enough water on this asteroid for us to go back?'"

That question becomes particularly interesting when you consider the potential windfalls. In 2015, President Obama signed into law the Space Resource Exploration and Utilization Act, (which passed with assistance from lobbyists working on behalf of Planetary Resources); it states that any citizen has the right to engage in the "commercial recovery of an asteroid resource or a space resource" without any interference from the US government.

Lewicki believes some precious metals excavated in space will be so valuable that it will be worth the cost to bring them back home. The company's future will mostly take place far from Earth, though, servicing a not-yet-existent space industry and the humans who work, live, and play in the outposts that support them.

Spacegetting there and living thereisn't easy. We haven't even touched on how future Martian colonists will go about protecting themselves from solar radiation (there's no protective ozone layer on Mars), securing sources of oxygen and water (the good news is there are indications of reserves of water just below the Martian surface), or grow their own food (Matt Damon's character in The Martian resorted to planting potatoes in his feces). These first pioneers will have to be a hearty bunch.

Elon Musk thinks a ticket to Mars can be brought down to around $200,000close to the median home price in the US todayvia a system whereby workers would pay off their debt over many years or even decades.

"Not everyone would want to go. In fact, probably a relatively small number of people from Earth would want to go, but enough would want to go who could afford it for it to happen," Musk writes. "People could also get sponsorship. It gets to the point where almost anyone, if they saved up and this was their goal, could buy a ticket and move to Marsand given that Mars would have a labor shortage for a long time, jobs would not be in short supply."

Terms like "indentured servitude" don't land very well on contemporary ears (which is probably why Musk opted to use "sponsorship"). But is it really all that different than going to work every day to earn money to repay a mortgage? This model is analogous to how some of the first English colonists in North America covered the cost of their intercontinental journeyby agreeing to become indentured servants with contracts that lasted anywhere between three and seven years. (Or perhaps it's like Dr. Fleischman's service-for-education agreement on the TV show Northern Exposure, if that's how you roll.)

For some, the promise of adventure in a new worldno matter the costwill be reason enough to make the interplanetary leap. But for others, Mars's endemic labor shortage might be the motivating factor. There's a very real possibility that in the future, we won't have enough jobs for people on Earth, thanks to automation. Mass "technological unemployment" is far from universally accepted gospel, but a number of people will be willing to leave the Earth to work in SpaceX Citypossibly for the rest of their lives.

These space pioneers will lay the foundation for a literal whole new world, but they might also play an important role supporting those of us who remain here on Earth. Civilization is under threat from asteroid impacts, global warming, and nuclear war; but it's also facing increasing pressure from a few centuries of unprecedented human progress. And colonization might be just the key to keeping it all goingon this planet and the ones that follow.

While cable news traffics in war, terrorism, and tragedy, the world is actually quietly enjoying a golden age.

Consider the following: Despite some troubling hot spots, we are seeing some of history's lowest rates of war deaths around the globe. According to The World Bank, childhood mortalitydefined by children under 5 who die per 1,000 live birthshas fallen from 182.7 in 1960 to just 42.5 in 2015; and last year, for the first time ever, the percentage of people living in extreme poverty (those living on less than $2 a day) fell below 10 percent.

That last one was a very big deal that didn't receive nearly enough attention. Not only has extreme poverty plummeted to historic lows, but it happened in the blink of history's eye. The World Bank also reports that extreme poverty plummeted from 37 percent of the globe in 1990 to just 9.8 percent last year, which is even more remarkable considering how the global population has continued to balloon since the Industrial Revolution.

There's little reason to think these trends won't continue, which leads to a very interesting problem: How will the world respond when communities that have finally risen above mere subsistence begin to expect (if not demand) things like nutritious food, clean water, electricity, access to information, and maybe even McMansions, SUVs, and bountiful backyards?

While technology helps us do more with less, a proliferation of middle class societies will place additional stress on a planet that is already long overdue for a vacation. Throw into the mix the prospect of a swelling population, climate change, and increased job competition, and you can see how things might get messy fast.

One possible countermeasure is physical expansion. Past expansions have managed to boost parent and colonial societies. "If you start moving people from where land is scarce and costly to where it is abundant and cheap, you're going to raise their standard of living and also generate a growing output per capita that will benefit the economies of both societies," explains Jan de Vries, professor emeritus of history and economics at the University of California at Berkeley. "One is benefited by less population pressure on their resources, and the other is benefited by high productivity for the new arrivalsand trade allows them both to become better off."

According to de Vries, in order for the motherland (or mother planet, in this case) to see any real economic benefit, the "transaction costs" have to come down. Mars is far away, but history shows that it's well within our abilities to shrink barriers that once seemed insurmountable. It took a couple of months for Columbus to cross the Atlantic; by the 1830s, the steam engine sliced the time to five days; and a century later, Charles Lindbergh flew from Long Island to Paris in just 33 hours.

Our ability to shorten the gap between Earth and its outposts will become increasingly consequentialwe need only look to the revolutionary founding of this country to understand why. After Europe's expansion into the New World, the two societies remained physically close enough to facilitate trade but were far enough apart that the colonies eventually began to think of themselves as something else. That philosophical break cleared the way for experimental forms of self-rule, which eventually had an impact on both sides of the Atlantic. We can only speculate about the impact of a similar interplanetary break.

Colonialism is a potent force that has the power not only to build new nations but to transform existing ones. The post-Columbus colonial expansion fueled the rise of powerful nation-states in Europe, which ousted the volatile feudalism that ruled the continent since at least the 10th century. The European nations that benefited the most in the Age of Discovery were those with access to the most advanced maritime technologies; but in the Age of Discovery 2.0, those with the most advanced space technologies probably won't be European, American, Russian, or Chinese. They might not be nations at all; SpaceX City could represent the beginning of a whole new political paradigm.

Nobody can predict how it will all shake out at this point, but consider the prospect of billions and trillions of space bucks flowing unfettered into highly organized corporate structures thatnot to get all #FeelTheBern on youhave spent the past 30-plus years untangling themselves from government oversight. (As mentioned above, we've already seen the private space industry successfully lobby US regulators to loosen control over the nascent extraterrestrial economy.)

It's not difficult to imagine how a corporate-run outpost far from the Earth might trend dystopian, but there's reason for optimism as well. Absent a global calamity leading to widespread desperation, there's little reason to believe that people won't continue to expect certain unalienable rights. Any authority that attempts to tell them otherwise will have a fight on its hands.

In fact, human dignity's best chance for survival in space is a multitude of colonies that are close enough for trade and travel but far enough apart that they don't directly compete for resources. In this scenario, if you didn't like the way things run in SpaceX City, you could make a case of your usefulness to Planetary Resource's floating armada to buy your contract (like what T-Mobile will do today to get you out of your contract with Verizon). Once your debt is paid, you'd be free to try out Blue Origin Town on the moon of Europa. Or if you're feeling entrepreneurial, maybe even go out and start your own homestead. Just like a marketplace of nations.

Once a multitude of peacefully coexisting outposts is established, some intriguing possibilities arise. Just as the European colonies in the Americas ran real-world experiments featuring new forms of government, future space colonies would be free to experiment with novel societal models of their own. Some of these models will fail and some will flourish, but they'll all have the ability to learn from each other's missteps and improve over time. Free-market kumbaya.

On the other hand, anyone suckered into moving to space might be enslaved by an AI-infused uber-Musk that inhabits a giant kill-bot made from repurposed Falcon Heavy rockets. The colonists will be forced to do his bidding as he wages an unending galaxy-wide war against an army of Bezos cyborg clones.

Humanity's future in space is too far away to predict with absolute clarity. But it's close enough that it's worth our time to carefully observe it as it takes shape. And it's worth our collective effort to make sure it gets done right.

This story first appeared in the PC Magazine Digital Edition. Subscribe today for more original feature stories, news, reviews, and how tos!

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Here’s where experts say we should draw the line on gene-editing experiments on human embryos – Los Angeles Times

Posted: at 12:50 pm

A day after a blockbuster report that researchers had edited harmful genetic mutations out of human embryos in an Oregon lab, an international group of genetics experts urged scientists against taking the next step.

A panel of the American Society of Human Genetics, joined by representatives from 10 organizations scattered across the globe, recommended against genome editing that culminates in human pregnancy. Their views were published Thursday in the American Journal of Human Genetics.

In the United States, the Food & Drug Administration forbids any medical use of gene editing that would affect future generations, and the agency strictly regulates experimental use of the technology in labs. But around the world, scientists sometimes circumvent restrictions like these by conducting clinical work in countries that have no such strictures.

People who want to gain access to these techniques can find people willing to perform them in venues where they are able to do so, said Jeffrey Kahn, director of the Berman Center for Bioethics at Johns Hopkins University. That underscores the importance of international discussion of what norms we will follow.

Indeed, some of the groups signing on to the new consensus statement acknowledged that they inhabit parts of the world in which medical and scientific regulatory bodies scarcely exist, or are not robust.

The panel said it supports publicly funded research of the sort performed at Oregon Health & Science University and reported Wednesday in the journal Nature. Such work could facilitate research on the possible future applications of gene editing, according to its position statement.

In the Nature study, researchers created human embryos with a mutation in the MYBPC3 gene that causes an often fatal condition called inherited hypertrophic cardiomyopathy. Then they edited the DNA of those embryos during the first five days of their development. At that point, the embryos were extensively analyzed and used to create stem cell lines that can be maintained indefinitely and used for further research.

But advancing to the next step allowing pregnancies to proceed with altered embryos will require further debate, the genetics specialists asserted.

They cited persistent uncertainties regarding the safety of gene-editing techniques. They also said the ethical implications of so-called germ-line editing, which would alter a patients genetic code in ways that would affect his or her offspring, remain insufficiently considered.

Panel members raised questions about who would have access to therapies made possible by manipulating the genome, and how existing inequities could be exacerbated. And they expressed concerns that the availability of germ-line editing could encourage experiments in eugenics the creation of people engineered for qualities such as intelligence, beauty or strength that would set them apart as superior.

Perhaps the most deeply felt concern is conceptual: the sense that in identifying some individuals and their traits as unfit, we experience a collective loss of our humanity, the group wrote.

The position statement comes on the heels of the Nature study reporting the first successful use in human embryos of a relatively new and increasingly popular gene-editing technique known as CRISPR-Cas9. That study offered some reassurance that unforeseen or off target effects of such therapies can be avoided with certain practices.

Study leader Shoukhrat Mitalipov, a biologist at the Oregon university, said that while there is a long road ahead, he hoped to employ these techniques in human clinical trials in the coming years.

The genetics groups consensus statement lays out some of the scientific and ethical debates that should come before any trial would attempt the incubation and birth of children whose faulty genes had been repaired while they were still embryos.

The group also voiced concerns about the potential impact of germ-line editing on families and societies in which they might become widely used.

Arguably, the ability to easily request interventions intended to reduce medical risks and costs could make parents less tolerant of perceived imperfections or differences within their families, panel members wrote. Clinical use of germline gene editing might not be in the best interest of the affected individual if it erodes parental instinct for unconditional acceptance.

melissa.healy@latimes.com

@LATMelissaHealy

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Genetics expert discusses creating ground rules for human germline editing – Medical Xpress

Posted: at 12:50 pm

August 4, 2017

A Stanford professor of genetics discusses the thinking behind a formal policy statement endorsing the idea that researchers continue editing genes in human germ cells.

A team of genetics experts has issued a policy statement recommending that research on editing human genes in eggs, sperm and early embryos continue, provided the work does not result in a human pregnancy.

Kelly Ormond, MS, professor of genetics at the Stanford School of Medicine, is one of three lead authors of the statement, which provides a framework for regulating the editing of human germ cells. Germ cells, a tiny subset of all the cells in the body, give rise to eggs and sperm. Edits to the genes of germ cells are passed on to offspring.

The statement, published today in the American Journal of Human Genetics, was jointly prepared by the American Society for Human Genetics and four other human genetics organizations, including the National Society of Genetic Counselors, and endorsed by another six, including societies in the United Kingdom, Canada, Australia, Africa and Asia.

Germline gene editing raises a host of technical and ethical questions that, for now, remain largely unanswered. The ASHG policy statement proposes that federal funding for germline genome editing research not be prohibited; that germline editing not be done in any human embryo that would develop inside a woman; and that future clinical germline genome editing in humans not proceed without a compelling medical rationale, evidence supporting clinical use, ethical justification, and a process incorporating input from the public, patients and their families, and other stakeholders.

Ormond recently discussed the issues that prompted the statement's creation with writer Jennie Dusheck.

Q: Why did you think it was important to issue a statement now?

Ormond: Much of the interest arose a couple of years ago when a group of researchers in China did a proof of principle study demonstrating that they could edit the genes of human embryos.

The embryos weren't viable [meaning they could not lead to a baby], but I think that paper worried people. Gene editing in human germ cells is not technically easy, and it's not likely to be a top choice for correcting genetic mutations. Still, it worried us that somebody was starting to do it.

We've been able to alter genes for many years now, but the new techniques, such as CRISPR/Cas9, that have come out in the past five years have made it a lot easier, and things are moving fast. It's now quite realistic to do human germline gene editing, and some people have been calling for a moratorium on such work.

Our organization, the American Society of Human Genetics, decided that it would be important to investigate the ethical issues and put out a statement regarding germline genome editing, and what we thought should happen in the near term moving forward.

As we got into the process, we realized that this had global impact because much of the work was happening outside of the United States. And we realized that if someone, anywhere in the world, were moving forward on germline genome editing, that it was going to influence things more broadly. So we reached out to many other countries and organizations to see if we could get global buy-in to the ideas we were thinking about.

Q: Are there regulations now in place that prevent researchers from editing human embryos that could result in a pregnancy and birth?

Ormond: Regulations vary from country to country, so research that is illegal in one country could be legal in another. That's part of the challenge and why we thought it was so important to have multiple countries involved in this statement.

Also, since 1995 the United States has had regulations against federal funding for research that creates or destroys human embryos. We worry that restricting federal funding on things like germline editing will drive the research underground so there's less regulation and less transparency. We felt it was really important to say that we support federal funding for this kind of research.

Q: Is germline editing in humans useful and valuable?

Ormond: Germline editing doesn't have many immediate uses. A lot of people argue that if you're trying to prevent genetic disease (as opposed to treating it), there are many other ways to do that. We have options like prenatal testing or IVF and pre-implantation genetic testing and then selecting only those embryos that aren't affected. For the vast majority of situations, those are feasible options for parents concerned about a genetic disease.

The number of situations where you couldn't use pre-implantation genetic diagnosis to avoid having an affected child are so few and far between. For example, if a parent was what we call a homozygote for a dominant condition such as BRCA1 or Huntington's disease, or if both members of the couple were affected with the same recessive condition, like cystic fibrosis or sickle cell anemia, it wouldn't be possible to have a biologically related child that didn't carry that gene, not unless germline editing were used.

Q: What makes germline editing controversial?

Ormond: There are families out there who see germline editing as a solution to some genetic conditions. For example, during a National Academy of Sciences meeting in December of 2015, a parent stood up and said, "I have a child who has a genetic condition. Please let this move forward; this is something that could help."

But I also work in disability studies, as it relates to genetic testing, and there are many individuals who feel strongly that genetic testing or changing genes in any way makes a negative statement about them and their worth. So this topic really edges into concerns about eugenics and about what can happen once we have the ability to change our genes.

Germline gene editing impacts not just the individual whose genes are edited, but their future offspring and future generations. We need to listen to all of those voices and try to set a path that takes all of them into account.

That's a huge debate right now. A lot of people say, "Let's not mess around with the germline. Let's only edit genes after a person is born with a medical condition." Treating an existing medical condition is different from changing someone's genes from the start, in the germline, when you don't know what else you're going to influence.

Q: There was a paper recently about gene editing that caused mutations in excessive numbers of nontargeted genes, so called "off-target effects." Did that result surprise you or change anything about what you were thinking?

Ormond: I think part of the problem is that this research is moving very fast. One of our biggest challenges was that you can't do a good ethical assessment of the risks and benefits of a treatment or technology if you don't know what those risks are, and they remain unclear.

We keep learning about potential risks, including off-target mutations and other unintended consequences. Before anyone ever tries to do germline gene editing in humans, it is very important that we do animal studies where the animals are followed through multiple generations, so that we can see what happens in the long term. There's just a lot that we don't know.

There are so many unknowns that we don't even know what guidelines to set. For example, what's an appropriate new mutation level in some of these technologies? What is the risk we're willing to take as we move forward into human studies? And I think those guidelines need to be set as we move forward into clinical trials, both in somatic cells [cells of the body, such as skin cells, neurons, blood cells] and in germline cells.

It's really hard because, of course, we're talking about, for the most part, bad diseases that significantly impact quality of life. So if you're talking about a really serious disease, maybe you're willing to take more risk there, and these new mutations aren't likely to be as bad as the genetic condition you already have. But we don't know, right?

We haven't had any public dialogue about any of this, and that's what we need to have. We need to find a way to educate the public and scientists about all of these issues so people can have informed discussions and really come together as this moves forward, so that were not in that reactive place when it potentially becomes a real choice.

And that goes back to your first question, which is why did we feel like we needed to have a statement now? We wanted to get those conversations going.

Explore further: 11 organizations urge cautious but proactive approach to gene editing

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Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine – PR Newswire (press release)

Posted: at 12:50 pm

Dr. Hegde joined PerkinElmer in 2016 as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.

Dr. Hegde has served on a number of Scientific Advisory Boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and Neuromuscular Disease Foundation. She was a Board member of the Association for Molecular Pathology and received the Outstanding Faculty Award from MD Anderson Cancer Center. She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the College and supporter of both the College and the Foundation," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to help train the next generation of medical geneticists, to sponsor the development of practice guidelines, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support the work of the Foundation, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, kbeal@acmg.net

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Chelsea Manning sent her DNA to an artist while in prison and the results are spectacular – CNN

Posted: at 12:50 pm

It was made public by the Army in 2013 and remained the only photo portraying her as a woman until her release from prison in 2017 -- other photos were prohibited while she was in custody.

It's strangely fitting, then, that 30 lifelike 3D portraits of her face now hang from a ceiling in the Fridman Gallery in Manhattan.

"This is a sampling of thirty possible faces that could be produced algorithmically reading Chelsea's DNA data," said Dewey-Hagborg during the exhibition's private view.

"They represent a wide range of the diversity that exists within Chelsea's genome, a diversity in which that same DNA data can be read."

The DNA samples were recovered from cheek swabs and hair clippings that were part of a correspondence between Manning and Dewey-Hagborg.

It's a similar process to Dewey-Hagborg's groundbreaking 2012 project "Stranger Visions," which used random bits of DNA found on cigarette butts and other litter to create portraits of strangers.

"In 2015 I received an email more or less out of the blue from Paper magazine. She couldn't be visited and photographed at that time and so they reached out to Chelsea and asked if she'd be interested in having a DNA portrait made."

A handful of letters were exchanged over the next two years through an intermediary.

"Chelsea was excited about the idea, but also concerned the she might appear too male in a portrait generated just based on her DNA," said Dewey-Hagborg.

"I'm hoping that people will take away the idea that genetics is not destiny and a kind of push for self-determined identity and a push against efforts to inscribe identities into us, or for external forces to tell us who we are rather than listening to us say this is who I am."

Ruddy Shrock, the curator of the exhibition, defined it as a "a poetic investigation Heather took into issues of identity and ownership of oneself."

Around 250 people were in attendance at the opening. Manning arrived accompanied by friends and her agent, but declined to speak with the media.

She was followed around by the documentary team for "Chelsea XY," which will be released at Sundance Film Festival in January 2018.

She did engage with fans and supporters and took photos with them.

"To have Chelsea out, in a dress, creating art, on this wonderful journey with other activists and people in the media, it's really moving," said Suzie Glbert, one of the attendees.

Jeff Seelbach, a fan of Chelsea and producer at the company funding her documentary, said: "The thing that fascinates me about it is the very unique and terrible situation she was in, that her identity and her ability to have an image and a representation was completely suppressed by the government and by our legal system."

Artist Heather Dewey-Hagborg also got to meet Chelsea in person for the first time after their mail exchange.

"It was both totally amazing and then completely normal. I mean we had brunch, avocado toast, you know, your typical New York thing. But then it was also just completely stunning to see someone you've pictured in your head," she noted.

"She's [Chelsea] really excited about it, this is her kind of art debut."

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Scientists discover unknown virus in ‘throwaway’ DNA – Phys.Org

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August 4, 2017 Credit: CC0 Public Domain

A chance discovery has opened up a new method of finding unknown viruses.

In research published in the journal Virus Evolution, scientists from Oxford University's Department of Zoology have revealed that Next-Generation Sequencing and its associated online DNA databases could be used in the field of viral discovery. They have developed algorithms that detect DNA from viruses that happen to be in fish blood or tissue samples, and could be used to identify viruses in a range of different species.

Next-Generation Sequencing has revolutionised genomics research and is currently used to study and understand genetic material. It allows scientists to gather vast amounts of data, from a single piece of DNA, which is then collated into huge, online, genome databases that are publicly accessible.

Dr Aris Katzourakis and Dr Amr Aswad, Research Associates at Oxford's Department of Zoology, initially discovered the new use for the database, by chance. While looking for an ancient herpes virus in primates, they found evidence of two new undocumented viruses.

Spurred by their accidental discovery, they set out to see if they could intentionally achieve the same result. In a separate project to find new fish-infecting herpes viruses, they used the technique to examine more than 50 fish genomes for recognisable viral DNA. Sure enough, in addition to the herpes viruses they were expecting to find, the researchers identified a distant lineage of unusual viruses - that may even be a new viral family. The traits were found scattered in fragments of 15 different species of fish, including the Atlantic salmon and rainbow trout.

To confirm that the viral evidence was not simply a fluke, or a data processing error, they tested additional samples from a local supermarket and sushi restaurant. The same viral fragments were found in the bought samples.

Study author Dr Aris Katzourakis, from Oxford University's Department of Zoology, said: "In the salmon genome we found what seems to be a complete and independent viral genome, as well as dozens of fragments of viral DNA that had integrated into the fish DNA. We know from recent studies that viruses are able to integrate into the genome of their host, sometimes remaining there for millions of years. In this case, it looks like the virus may have acquired the ability to integrate by stealing a gene from the salmon itself, which explains how it has become so widespread in the salmon genome."

The key to the success of this research is in its inter-disciplinary approach, combining techniques from two fields: evolutionary biology and genomics. Together, these are at the core of the new field of paleovirology - the study of ancient viruses that have integrated their DNA into that of their hosts, sometimes millions of years ago. Each technique used has been developed to analyse huge quantities of DNA sequence data.

Co-author and Research Associate at Oxford's Department of Zoology and St. Hilda's College, Dr Amr Aswad, said: "Discovering new viruses has historically been biased towards people and animals that exhibit symptoms of disease. But, our research shows how useful next generation DNA sequencing can be in viral identification. To many, viral DNA in say, chimp or falcon data is a nuisance, and a rogue contaminant that needs to be filtered from results. But we consider these an opportunity waiting to be exploited, as they could include novel viruses that are worth studying - as we have found in our research. We could be throwing away very valuable data."

Finding new viruses has historically not been an easy process. Cells do not grow on their own, so must be cultured in a laboratory before they can be analysed, which involves months of work. But the Oxford research represents a massive opportunity for the future.

Beyond this study, the approach could be used to identify viruses in a range of different species, particularly those known to harbour transmissible disease. Bats and rodents, for example, are notorious carriers of infectious disease that they are seemingly immune to. Insects such as mosquitoes are also carriers of viral diseases that harm humans, such as Zika. If applied effectively the method could uncover other viruses before an outbreak even happens.

Dr Katzourakis added: "One of the real strengths of this technique, as compared to more traditional virology approaches, is the speed of discovery, and the lack of reliance on identifying a diseased individual. The viral data collected, that may otherwise be discarded as a nuisance, is a unique resource for looking for both pathogenic and benign viruses that would otherwise have remained undiscovered."

The team will next begin to identify the impact of the viruses and whether they have any long term implications for disease, or commercial fish-farming. While an infectious virus may not cause disease in its natural host - in this case, fish. there is a risk of cross-species transmission to either farmed fish or wild populations.

However, the risk to humans is minimal. Dr Aris Katzourakis said: "Put it this way, I'm not going to stop eating sashimi."

Explore further: DNA sequencing and big data open a new frontier in the hunt for new viruses

More information: Amr Aswad et al. A novel viral lineage distantly related to herpesviruses discovered within fish genome sequence data, Virus Evolution (2017). DOI: 10.1093/ve/vex016

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Scientists discover unknown virus in 'throwaway' DNA - Phys.Org

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DNA Sunscreen Gets Better, Not Weaker, Over Time – Scientific American

Posted: at 12:50 pm

Many sunscreens wear off over the course of a day, but a DNA material developed by US scientists gets better at absorbing ultraviolet (UV) light the longer it is exposed to it.1The transparent coating could protect skin particularly damaged areas from sunburn over long periods of time.

UV light is particularly bad for wounds because the skin is already weakened, explainsClara Piccirilloa materials chemist from the Portuguese Catholic University, whopreviously developed a fishbone-derived sunscreenbut wasnt involved in this study. There is a lot of research to try and find multifunctional materials for dressings, for instance something antibacterial that at the same time protects from UV light.

To do this,Guy Germanfrom Binghamton University and his colleagues looked to one of the most common polymers on the planet: DNA. The team had already established that self-assembled DNA films could absorb UV light. But what was really interesting is that the more UV we dosed the films with, the better they got at attenuating the light, German says.

This unexpected behaviour is likely to be the result of hyperchromicity: when exposed to UV light, the DNAs strands separate and unravel. New bonds between the DNA chains and changes in the materials crystal structure then increase its ability to absorb and scatter light.

The coating is transparent to visible light, which would make it particularly suitable as a wound covering. You wouldnt need to lift up a wound covering as this might not be a good idea in hostile or contaminated environments, explains German. Moreover, the DNA film keeps the skin hydrated, which has been shown to promote faster healing.2Another advantage is that its made out of DNA, something that we already have in our bodies, so its likely that its not toxic, says Piccirillo. The material is currently undergoing biological testing, German adds.

As to whether the material could also work as an everyday sunscreen, German hopes so. A DNA-based cream could curbworries about the safety of common UV protectantsand decrease the amount ofcoral-harming chemicals released into coastal watersby sunscreen wearers.

However, in its current film-like form the material cant be made introduced into a cream, which requires compounds to be soluble or finely dispersed. It is the formation of the film that offers UV protection, says Piccirillo. I cant see this applied in an emulsion in its current form though that doesnt mean that in the future theyll find a way to formulate it that way.

We have lots of testing and work to do to push it forward to commercialisation status, acknowledges German, but thats another pathway that we are exploring.

This article is reproduced with permission fromChemistry World. The article wasfirst publishedon August 2, 2017.

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DNA Sunscreen Gets Better, Not Weaker, Over Time - Scientific American

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New digital method enhances understanding of changes in DNA’s makeup – Phys.Org

Posted: at 12:50 pm

August 4, 2017 Credit: Newcastle University

Scientists have developed a computational method to detect chemical changes in DNA that highlight cell diversity and may lead to a better understanding of cancer.

In the European study, published in Nucleic Acids Research and involving Newcastle University, experts have established a bioinformatics method that can be applied in hematopoiesis, the process of blood formation from stem cells.

The information of how to form the different cells in our body is encoded in our genome, which is composed by the four letters of DNA.

Each cell type is characterised by its distinct epigenome, a makeup of the genome composed of many different proteins that leave "open" or "closed" different parts of the genome.

Using different makeups, the same genome in one person can encode the necessary information to develop all the different tissues and organs.

The new method developed allows the automatic analysis of multiple epigenomes to identify the genomic locations where the necessary makeup changes to form both healthy and diseased cell types.

Disease biomarkers

Dr Daniel Rico, Research Fellow at Newcastle University's Institute of Cellular Medicine, said: "We have the technology to reveal the different epigenomic makeups and this is generating a significant amount of data.

"We can seriously talk about "big data" in epigenomics research. However, the main bottleneck is to translate all this data into useful information to get insight into biological mechanisms.

"The new method that we have developed will allow researchers to identify the key regions in the genome that show differential makeups depending of the cell types.

"As many diseases are associated to disease-specific epigenomic makeups, this method will be particularly useful to identify the key regions in the genome where the makeup deviates from the healthy state.

"This will allow the development of new disease biomarkers and, hopefully, open a new path for developing therapies targeting the epigenomes."

The method allows the integration of a variety of epigenomic datasets to classify different samples and automatically identify genomic regions in which changes affect the definition of cell type.

Genome makeup

The human genome is a dull sequence of letters but it becomes alive thanks to the help of the epigenome.

The genome is like a book in which letters follow each other without empty spaces, full stops or commas. It would be very hard to read this book, utterly impossible to understand it.

However, with the simple addition of punctuation marks we can read and understand the meaning of that apparently dull sequence of letters.

This is the great task accomplished by the epigenome, which is composed of chemical changes on the DNA that allow us and the cell to understand how to read and interpret the genome.

For this reason, studying the epigenome is important to understanding how development can give rise to the large variety of cell types forming tissues and organs, all starting from a single cell and a single genome.

The epigenome is also often involved in explaining how a healthy cell gives rise to a tumour after a malignant transformation. But, despite the collections of data available until now, locating those regions of the genome with chemical changes and type of changes remains a challenge.

These chemical changes are produced during development and throughout life as an effect of external factors, such as lifestyle, and they can be triggers for diseases like cancer. Identifying epigenetic biomarkers is fundamental to enable new diagnostic and treatment options.

Molecular classifications have been widely used taking into account gene expression levels as biomarkers, using their on/off state.

This method lets researchers identify those regions that are involved in regulating the on/off gene state like biological switches. These regions could be used as epigenetic biomarkers that complement the actual molecular classifications.

Important development

Enrique Carrillo-de-Santa-Pau, co-first author of the study, from the Spanish National Cancer Research Centre, said: "The development of this type of methods is very important.

"Up to now differences between cell types had mostly been characterised at the levels of genes that are either switched on or off, that is the final product of the epigenomic regulation, but we did not know where the switches for these genes were (encoded in the epigenome).

"This acquired knowledge is fundamental to enable new therapies based on acting on the correct switches in cases where the cell loses control in diseases such as cancer.

"Understanding this level of regulation will take us one step further in the personalised medicine agenda."

It is hoped that this method will allow scientists to identify new epigenetic biomarkers, which may be used in personalised medicine diagnosis and treatment.

Explore further: First roadmap of stomach cancer super-enhancers paves the way for new treatments

More information: Automatic identification of informative regions with epigenomic changes associated to hematopoiesis, Nucleic Acids Research, doi.org/10.1093/nar/gkx618

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New digital method enhances understanding of changes in DNA's makeup - Phys.Org

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DNA evidence leads to arrest in 2002 rape case – Columbia Missourian

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COLUMBIA DNA evidence has led to an arrest in a 15-year rape case.

Jackie Lee Jennings of Columbia was arrested on Thursday on suspicion of rape in the first degree and burglary in the first degree in connection with a case that occurred on the night of April 29, 2002.

A Missouri State Highway Patrol lab report from March 27 had compared the DNA profile from the 2002 case to an offender DNA profile belonging to Jennings. Jennings also matched the description given by the victim.

On April 29, 2002, the victim said she was on her way home from T.P.s bar after leaving at approximately 12:30 a.m., when she was approached by a man offering her a ride or to follow her to make sure she got home safely.

The victim said she declined, and on arriving home, locked her door. She said she became ill and vomited, which was odd because she had only had two mixed drinks and was an experienced drinker.

After lying down in her bed for a moment, the victim looked up and saw the man, who attacked her and raped her, she said. She then passed out.

The DNA used by the highway patrol lab came from a fingerprint on an unscrewed light bulb, hair from the vacuum bag used after the victims room was vacuumed and semen left on the victims pants, which provided a DNA profile.

The victim has been contacted and informed of the developments.

Jennings was booked into the Boone County Jail. Bond has been set at $200,000.

Supervising editor is Mike Jenner.

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Ancient DNA solves mystery of fate of Bible’s Canaanites – The Columbian

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A A

In the Bronze Age, between 4,000 and 3,000 years ago, a diverse group of people called the Canaanites lived in the Middle East. Despite their culture and influence one of the only golden calf idols discovered was found in the Canaan seaport of Ashqelon they left behind little information about themselves. Other civilizations made records of them, such as the Greeks, Egyptians and the authors of the Hebrew Bible. But, without Canaanite texts to cite, scholars view the ancient people as a bit of an enigma.

We havent found any of their writings, said Chris Tyler-Smith, a geneticist who studies human evolution at the Sanger Institute in Britain. Perhaps they wrote on papyrus but not longer-lasting clay. We dont have direct information from them, he said. In that sense, they are a mystery.

Their final fate, too, was a puzzle. The Hebrew text offers one explanation for the destiny of the Canaanites: annihilation. The Israelites, per Deuteronomy 20:16-18, were commanded to utterly destroy the cities of various tribes including the Canaanites. Those who survived fled or became servants.

But historians are skeptical that either exodus or annihilation occurred. University of North Carolina religious studies professor Bart Ehrman noted in a 2013 blog post that, beyond the Hebrew Bible, there are no references in any other ancient source to a massive destruction of the cities of Canaan.

Now a study of Canaanite DNA, published recently in the American Journal of Human Genetics, rules out the biblical idea that an ancient war wiped out the group. The DNA, when compared to that of modern-day people, shows that the Canaanites managed to leave a long line of descendants. Even if they suffered some defeats, enough people survived that they contributed to the present-day population, Tyler-Smith said.

Tyler-Smith and his colleagues sampled ancient DNA from five Canaanite people who lived 3,750 and 3,650 years ago. Though the skeletal remains were buried in a hot and humid region along the Mediterranean, the scientists were still able to extract genetic material. They mined the petrous bone, a region of skull behind the ear thats also the densest bone in the body.

The geneticists sequenced the Canaanite genome and compared it to genomes of modern people, including Jordanians, Palestinians, Syrians and others from around the world. The comparison revealed that 90 percent of the genetic ancestry of people in Lebanon came from the Canaanites. (The other 10 percent was of a Eurasian steppe population.)

We can say that Lebanese mostly descend from an ancestry that is found in those five individuals, said Marc Haber, a Sanger Institute geneticist and an author of the new study. What we find is that the ancestry has changed, but it has changed very little.

The unbroken genetic heritage was a surprise. From the Bronze Age onward, that coastal Mediterranean region has been the site of repeated conquering and reshuffling of populations. There was more genetic continuity in Lebanon than in a place like England, Tyler-Smith said.

Its an exciting time to be investigating ancient DNA, the geneticists said. The Canaanites were an ideal case study ancient genomes can provide information not available through historical records or archaeology. But the corridor from Egypt to Asia was a path well-worn by many groups moving in and out of Africa.

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