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Category Archives: Transhuman News

The Era of Human Gene Editing Is HereWhat Happens Next Is Critical – Singularity Hub

Posted: August 1, 2017 at 5:48 pm

Scientists in Portland, Ore., just succeeded in creating the first genetically modified human embryo in the United States, according toTechnology Review. Ateam led by Shoukhrat Mitalipov ofOregon Health & Science Universityis reported to have broken new ground both in the number of embryos experimented upon and by demonstrating that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

The U.S. teamsresults follow two trialsone last year and one in Aprilby researchers in Chinawho injected genetically modified cells into cancer patients.Theresearch teamsused CRISPR, a new gene-editing system derived from bacteria thatenables scientists to editthe DNA of living organisms.

The era of human gene editing has begun.

In the short term, scientists are planning clinical trials to use CRISPR to edit human genes linked to cystic fibrosis and other fatal hereditary conditions. But supporters of synthetic biology talk up huge potential long-term benefits. We could, they claim, potentially edit genes and build new ones to eradicate all hereditary diseases. With genetic alterations, we might be able to withstand anthrax attacks or epidemics of pneumonic plague. We might revive extinct species such as the woolly mammoth. We might design plants that are far more nutritious, hardy, and delicious than what we have now.

But developments in gene editing are alsohighlighting a desperate need for ethical and legal guidelines to regulate in vitro genetic editingand raising concerns about a future in which the well-off couldpay for CRISPR to perfect their offspring. We will soon be faced with very difficult decisions aboutwhen and how to use this breakthrough medical technology.For example, if your unborn child were going to have a debilitating disease that you could fix by taking a pill to edit theirgenome, would you take the pill? How about adding some bonusintelligence? Greater height or strength? Where would you draw the line?

CRISPRs potential for misuse by changinginherited human traits has prompted some genetic researchersto call fora global moratoriumon usingthe techniqueto modify human embryos. Such use is a criminal offense in 29 countries, and the United States bans the use of federal funds to modify embryos.

Still, CRISPRs seductiveness is beginning to overtake the calls forcaution.

In February, an advisory body fromthe National Academy of Sciences announcedthe academys support for usingCRISPR to edit the genes of embryos to remove DNA sequences that doctors saycause serious heritable diseases. The recommendation came with significant caveats and suggested limiting the use of CRISPR to specific embryonic problems. That said, the recommendation is clearly an endorsement of CRISPR as a research tool that is likely to become a clinical treatmenta step from which therewill be no turning back.

CRISPRs combination of usability, low cost, and power is both tantalizing and frightening, with the potential tosomeday enableanyone to edit a living creature on the cheap in their basements. So, although scientists might use CRISPR to eradicate malaria by making the mosquitoes that carry it infertile, bioterrorists could use it to create horrific pathogens that could kill tens of millions of people.

With the source code of life now so easy to hack, and biologists and the medical world ready to embrace its possibilities, how do we ensure the responsible use of CRISPR?

Theres a line that A Prairie Home Companion host Garrison Keillor uses whendescribing the fictional town of Lake Wobegon, whereall the children are above average. Will we enter a time when those who can afford a better genome will live far longer, healthier lives than those who cannot? Should the U.S. government subsidize genetic improvements to ensure a level playing field when the rich have access to the best genetics that money can buy and the rest of society does not? And what if CRISPR introduces traits into the human germ line with unforeseen consequencesperhaps higher rates of cardiac arrest or schizophrenia?

Barriers to mass use of CRISPR are already falling.Dog breeders looking to improve breedssuffering from debilitating maladies are actively pursuing gene hacking. A former NASA fellow in synthetic biology now sells functional bacterial engineering CRISPR kits for $150 from his online store. Its not hard to imagine a future in which the big drugstore chains carry CRISPR kits for home testing and genetic engineering.

The release ofgenetically modified organismsinto the wildin the past few years has raised considerable ethical and scientific questions. The potential consequences of releasing genetically crippled mosquitoes in the southern United States to reduce transmission of tropical viruses, for instance, drew a firestorm of concern over the effects on humans and the environment.

So, while the prospect of altering the genes of peoplemodern-day eugenicshas caused a schism in the science community, research with precisely that aim is happening all over the world.

We have arrived at a Rubicon. Humans are on the verge of finally being able to modify their own evolution. The question is whether they can use this newfound superpower in a responsible way that will benefit theplanet and its people. And a decision so momentous cannot be left to the doctors, the experts, orthe bureaucrats.

Failing to figure out how to ensure that everyonewill benefit from this breakthroughrisks the creation of a genetic underclasswho must struggle to compete with the genetically modified offspring of the rich. Andfailing to monitor and contain how we use itmay spell global catastrophe. Its up to us collectively to get this right.

This article was originally published byThe Washington Post. Read theoriginal article.

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‘The Bible Was WRONG!’: Media Massively Bungle Bible Story and Are Forced to Issue Corrections – CBN News

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In recent days, countless media outlets have carried bold headlines alleging that a new study calls into question key details presented in the Bible.But theresa big problemwith that narrative:It simply isnt true.

It all started with a newly released study published in theAmerican Journal of Human Genetics that claimed to find some intriguing information aboutthe Canaanites, an Old Testament people group that inhabited Palestine before the Hebrews conquered them and claimed the biblical promised land.

READ: Trumps Most Powerful Cabinet Members Are Making History With Weekly Bible Study

Titled, Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences, thereportpurports to show that present-day Lebanese derive most of their ancestry from a Canaanite-related population. On the surface, thats pretty interesting stuff.

But heres why the studys claim of finding Canaanite ancestors really made such a splash:Deuteronomy 20:17 discusses Gods call to utterly destroy the Canaanites, leading some reporters to make some inaccurate claims aboutwhat really happened.

The versereads, Completely destroy them the Hittites, Amorites, Canaanites, Perizzites, Hivites and Jebusites as the LORD your God has commanded you. And Joshua 10 does proclaim that there were no survivors during the conquests, but there are anumber of theoriesinvolving the language used that could help explain that proclamation.

Either way, many in the media simply stopped there, purporting that any modern day evidence of Canaanite DNA must mean that the Bible is incorrect.

Rather than media outlets digging deeper into the truth about whats in the biblical texts, writerDavid Klinghoffer accused culturally illiterate science reporters of using the study to slap [the] Bible around. Klinghoffer, writing for Evolution News,compiled a listof the media headlines that emerged in the wake of the studys release:

Theres a major problem with all of these gotcha Bible headlines, though: Some of them are pretty inaccurate.

AsKlinghoffer noted, the Bible makes it clear in the Book of Judges that the Canaanites lived on beyond the invasion. In fact, the first chapter (verses 28-33)says it all:

When Israel became strong, they pressed the Canaanites into forced labor but never drove them out completely.Nor did Ephraim drive out the Canaanites living in Gezer, but the Canaanites continued to live there among them.Neither did Zebulun drive out the Canaanites living in Kitron or Nahalol, so these Canaanites lived among them, but Zebulun did subject them to forced labor.Nor did Asher drive out those living in Akko or Sidon or Ahlab or Akzib or Helbah or Aphek or Rehob.The Asherites lived among the Canaanite inhabitants of the land because they did not drive them out.Neither did Naphtali drive out those living in Beth Shemesh or Beth Anath; but the Naphtalites too lived among the Canaanite inhabitants of the land, and those living in Beth Shemesh and Beth Anath became forced laborers for them.

After realizing that there were some major errors in their reporting, some journalists issued retractions. The Telegraph was among those that published an honest assessment of the previously incorrect information in the outlets initial report.

The original version of this story erroneously said the Bible claimed the Canaanites were wiped, a correctionreads at the end of the story. However, elsewhere in the Bible, it says the elimination was not successful.

Its possible that some of the confusion could have emerged from the DNA study itself, as there are some lines of text in the report about the so-called destruction of the Canaanites.

Uncertainties also surround the fate of the Canaanites: the Bible reports the destruction of the Canaanite cities and the annihilation of its people; if true, the Canaanites could not have directly contributed genetically to present-day populations, the textreads. However, no archaeological evidence has so far been found to support widespread destruction of Canaanite cities between the Bronze and Iron Ages: cities on the Levant coast such as Sidon and Tyre show continuity of occupation until the present day.

So, there you have it. Unfortunately, its yet another example of journalists misunderstanding biblical details and making claims that simply dont add up to the facts.

Some might call it fake news, though others would simply attribute it to laziness. Either way: the record has now been cleared.

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CRISPR star Jennifer Doudna calls for public debate on embryo editing – The San Diego Union-Tribune

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After Jennifer Doudna and other scientists improved the technology known as CRISPR to edit human genomes, a long-awaited, and sometimes feared, milestone arrived.

For the first time in human existence, it became practical to change genes throughout the entire human genome with high precision and accuracy. And today, a decade after the introduction of CRISPR, its newly apparent that such manipulations have been made to human embryos a feat achieved by scientists at the Salk Institute in La Jolla and elsewhere.

Tinkering with genetics, a system that has been produced through billions of years of evolution, takes humanity into unknown territory. This powerful technology can be used for many purposes, not just stopping disease. Alterations in an embryos edited genome would be passed along to generations of descendants for good or ill.

Doudna, a UC Berkeley molecular biologist, said during a visit to San Diego this week that society needs to catch up to this potentially world-transforming field of science. She has co-authored a book, A Crack in Creation, on the benefits, perils and ethics of what scientists call germline editing.

The question will be as the technology comes to fruition ... should we use it in that fashion? Doudna said about germline editing in a Monday interview at the American Association for Clinical Chemistrys scientific meeting in San Diego.

Its a question that has many facets to it, she said. Who decides who gets access, who pays for it and under what circumstances should that type of editing be done? These are important questions because the technology is already at the point where its possible to do this.

Her points were underscored by reports last week of a germline-editing study performed by a team in the United States (including the Salk researchers), China and Korea. The report showed that CRISPR could be used to repair a genetic defect in single-celled human embryos. The embryos were not allowed to develop beyond a few days.

This project received private funding, allowing it to sidestep government restrictions on such genetic editing.

The study was leaked to a British reporter and hasnt been published yet.

Doudna said she wasnt cognizant of the ethical issues when she and collaborator Emmanuelle Charpentier began exploring CRISPR.

Beyond the call for society to grapple with the ramifications of germline editing, Doudna said, its difficult to get more specific, except to exercise general caution.

In many cases, genetic defects dont even need to be repaired if multiple embryos are being generated, she said. These embryos could simply be screened for genetic defects, and a healthy embryo would be chosen.

In my opinion, we still need to respect the recommendations in the (National Academy of Sciences) report published in February that recommended refraining from clinical use of human germline editing until and unless theres broad societal consensus about the value, Doudna said.

The report available at j.mp/nasgene doesnt actually spell out how the technology should be used; it merely suggests a method for making decisions, Doudna said.

The challenge is how to actually implement discussions that might lead to a broad societal consensus. The debate is still out on how we might proceed.

International scientific organizations, leading research and medical groups in the United States, the Trump administration and others have neither taken the lead nor been able to unify the wide spectrum of parties to arrive at a joint set of standards.

Amid the political, ethical and cultural questions, Doudna emphasized that CRISPR also might transform human suffering by treating or even eradicating various diseases. The method can do so by altering the genome of non-reproductive cells, and these changes wouldnt get transferred to the next generation.

It's important to for people to appreciate that this is a powerful technology that has the potential to do a lot of good, to solve real-world problems not only in clinical medicine but also in agriculture and synthetic biology, Doudna said.

Untold millions of years ago, Mother Nature invented genetic editing.

Bacteria use CRISPR short for Clustered Regularly Interspaced Short Palindromic Repeats to fight viral infections.

The system contains an RNA sequence that can locate a complementary DNA sequence, along with an enzyme called Cas that acts as molecular scissors to cut up the DNA. The RNA matches sequences from previous infections, which the bacteria capture and incorporate into the CRISPR system.

Humans entered the picture when they realized that the RNA sequence could be swapped out with other sequences specifying various DNA segments of interest. This approach could be used to chop up a defective sequence.

Doudna said her lab is exploring genetic editing to treat diseases of the brain. This endeavor is strictly in the research stage, and much more testing will be needed before it can be considered for testing in people.

I think were still years away from having a clinical application, especially for things like Huntingtons disease, Doudna said.

In the end, she said, its important for the public to understand that all the good CRISPR might produce has emerged from basic research.

It really came about from fundamental science that was going on in international collaboration, that led to an understanding of a system that could be harnessed as a tool for gene editing, Doudna said. The value of fundamental research is really underscored when you look at what can happen when scientists are allowed to do creative work that is not applied in a particular direction.

bradley.fikes@sduniontribune.com

(619) 293-1020

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New theory of polymer length provides improved estimates of DNA and RNA size – Phys.Org

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August 1, 2017 Illustrations of double-stranded DNA, RNA and a wormlike bead chain model.The radial distribution of the end-to-end distance, Ree, and contour length, L, are shown. Credit: Xi Zhang/Bao/Wu/Zhu/Tan

Unlike the rigid plastic models from chemistry class, real chains of molecules can bend and stretch, like beads on an elastic cord. Some polymers, like DNA, are especially stretchy, a characteristic that can complicate attempts to model their behavior.

Since the seminal work of Paul Flory, researchers have developed a variety of formulas for calculating distance between the ends of a curved polymer. However, these formulas have typically failed to consider the stretchiness of the molecule. In a new study, published this week in The Journal of Chemical Physics, scientists have derived a formula to determine the end-to-end distance of a semiflexible polymer, including DNA or RNA, while taking into account how much the polymer stretches.

Previous estimates of how polymers bend did not account for how the molecule moves in three dimensions. "This method to calculate the contour length distribution is more rigorous," said Xi Zhang from Wuhan University and lead author of the paper. "Not only can we calculate the end-to-end distance, we can also figure out the shape of the polymer."

By including the stretchiness of the polymer, the new formula can help researchers estimate the flexibility of segments of DNA, a property known to be essential to its biological function. DNA's flexibility impacts the binding of regulatory proteins and how the DNA wraps around histones, proteins that act like spools to keep DNA neatly packaged inside a nucleus. The specific ways that DNA bends and wraps around histones can affect gene expression by exposing certain genes to the outside, while others remain tucked away.

The researchers built on the foundation of the wormlike chain model, which treats semiflexible polymers like DNA and RNA as links in a chain. Using extensive Monte Carlo simulations, they validated their formula over a wide range of values for stretchiness and flexibility. They also used molecular dynamics simulations, which model how molecules move and interact in time, to ensure that they obtained similar results from their method for short DNA and RNA polymers.

This type of formula is more computationally efficient than using computer simulations to determine the end-to-end distance of stretchy, bending polymers, and, in seconds, can calculate results that could take weeks of simulations.

The new formula is especially useful for estimating the end-to-end length distribution of small polymers, the authors point out. "This stretching is really important in a biopolymer when it's really short, say 40 base pairs," Zhang said. They calculate that the effect of the stretching becomes negligible for DNA molecules longer than about 130 base pairs, and for RNAs longer than about 240 base pairs.

Explore further: Estimating the glass transition temperature for polymers in 'confined geometries'

More information: "Radial distribution function of semiflexible oligomers with stretching flexibility," Xi Zhang, Lei Bao, Yuan-Yan Wu, Xiao-Long Zhu and Zhi-Jie Tan, Journal of Chemical Physics August 1, 2017 aip.scitation.org/doi/full/10.1063/1.4991689.

Polymers are used for myriad applications today, and perhaps the most important property that dictates which polymer is chosen for a given application is its "glass transition temperature." Many industrial polymers possess ...

Theoretical physicists led by Professor Kurt Binder and Dr. Arash Nikoubashman at Johannes Gutenberg University Mainz (JGU) in Germany have used computer simulations to study the arrangement of stiff polymers in spherical ...

Scientists use simulations to test the limits of their object of studyin this case thin films of polymersto extremes of scale. In a study about to be published in the European Physical Journal E, Nava Schulmann, a researcher ...

All polymers have a distinctive degree of elasticityhow much they will stretch when a force is applied. However, for the past 100 years, polymer scientists have been stymied in their efforts to predict polymers' elasticity, ...

Polymers are very large molecules consisting of thousands, even millions, of atoms bonded together in a repeating pattern similar to a chain. They make up many of the things around us we consider part of our everyday lives, ...

(Phys.org)One of the most puzzling things about evolution is that, even after 4 billion years, it hasn't stopped. Instead of culminating in a single best adapted species, today the Earth contains an estimated 8.7 million ...

Unlike the rigid plastic models from chemistry class, real chains of molecules can bend and stretch, like beads on an elastic cord. Some polymers, like DNA, are especially stretchy, a characteristic that can complicate attempts ...

By some estimates, bacterial strains resistant to antibioticsso-called superbugs - will cause more deaths than cancer by 2050.

A chemical process that allows color images to be printed on specially coated paper and then erased so that different images can be printed on the same paper has been developed by researchers at Rice, Yonsei and Korea universities.

Jean-Sabin McEwen knocks out a web search for "North Dakota," "night sky" and "flaring," and quickly finds a picture from space showing a glowing cluster bigger than Minneapolis. It's from oil and gas fields burning off methane, ...

Two new discoveries from Edward Yu's Iowa State University laboratory are adding to the scientific understanding of how bacteria resist antibiotics.

Scientists at Rice University and the Lawrence Livermore National Laboratory have predicted and created new two-dimensional electrocatalysts to extract hydrogen from water with high performance and low cost.

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DNA discovery identifies living descendants of Biblical Canaanites … – Fox News

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DNA research is shining new light on the Biblical Canaanite civilization, which existed thousands of years ago in the Middle East.

The ancient civilization, which created the first alphabet and is mentioned frequently in the Bible, has long fascinated historians. LiveScience reports that, because the Canaanites kept their records on papyrus, rather than clay, relatively little is known about them.

Now, however, scientists have found a genetic trail back to the Canaanites ancient world.

EXPERTS HUNT FOR BIBLICAL TABERNACLE THAT HOUSED THE ARK OF THE COVENANT

By sequencing the genomes of five Canaanites that lived 4,000 years ago with genomes from 99 people living in modern day Lebanon, researchers identified a strong genetic link to the mysterious civilization.

The results surprised the scientists, whose work was supported by U.K. biomedical research charity The Wellcome Trust.

"In light of the enormously complex history of this region in the last few millennia, it was quite surprising that over 90 percent of the genetic ancestry of present-day Lebanese was derived from the Canaanites," said Chris Tyler-Smith, senior group leader at The Wellcome Trust Sanger Institute, in a statement.

EXPERTS UNCOVER EVIDENCE OF ANCIENT JERUSALEMS DESTRUCTION BY THE BABYLONIANS

In addition to the ancient Canaanite DNA, the analysis of genomes from the modern day Lebanese people also showed a small proportion of Eurasian ancestry that may have come from conquests by Assyrians, Persians or Macedonians, according to the experts.

The researchers also discovered that the ancient Canaanites were a mixture of local people, who settled in farming villages during the Neolithic period, and eastern migrants who arrived about 5,000 years ago. Using ancient DNA we show for the first time who were (genetically) the ancient Canaanites, how they were related to other ancient populations and what was their fate, explained Marc Haber, a genetic data expert at The Wellcome Trust Sanger Institute, in an email to Fox News. Our work shows the power of genetics in filling gaps in human history when the historical records are absent or scarce.

ARCHAEOLOGISTS UNEARTH 2,700-YEAR OLD RESERVOIR IN ISRAEL

Haber added that the results complement Biblical accounts of the Canaanites. While the Israelites are commanded to utterly destroy the Canaanites in Deuteronomy 20:16-18, Judges 1 describes the survival of a number of Canaanite communities.

Canaanites once lived in what we now recognize as Israel, the Palestinian territories, Lebanon, Syria and Jordan. The remains of the five ancient Canaanites studied as part of the DNA research were recovered in the modern-day Lebanese city of Sidon.

The research was published in the American Journal of Human Genetics on July 27.

Follow James Rogers on Twitter @jamesjrogers

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DNA Test Finds Bernie Sanders and Larry David Are Related – Washington Free Beacon

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Sen. Bernie Sanders / Getty Images

BY: Paul Crookston August 1, 2017 8:36 am

Comedian Larry David's impression of Sen. Bernie Sanders (I., Vt.) became a "Saturday Night Live" favorite during the presidential primary, and now a DNA test shows there's more than just a resemblance between the two.

David and Sanders share identical DNA in three chromosomes, which led Henry Louis Gates Jr. of PBS's "Finding Your Roots" to conclude that they are related, the Associated Pressreports. The show explores American history by examining the lives and even DNA of celebrity guests, and the episode that revealedthe two men are related will air in October.

"I was very happy about that," David said on a tour promoting the return of his show "Curb Your Enthusiasm" on HBO. "I thought there must have been some connection."

Gates said that they "couldn't have scripted" the discovery. David revealed last week to critics that he just learned he was Sanders' "third cousin or something."

Both men are Jewish and grew up in Brooklyn around the same time, where they developed similar accents. David said he had an easy time learning to "talk like Bernie" as he developedthe impression that became a staple on "Saturday Night Live."

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20000 Homes Planned For Huge Vacant US Steel Site As New Buyer Emerges – DNAinfo

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The vacant South Works site runs from 79th Street to the Calumet River along the lakefront. View Full Caption

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SOUTH CHICAGO U.S. Steel has reached a deal to sell the 440-acre South Works site along the city's south lakefront, Mayor Rahm Emanuel announced.

Emerald Living will buy the land with views of the Chicago skyline from U.S. Steel and build a mixed-use development that will include up to 20,000 housing units, Emanuel said.

The partnership, which brings together the WELink Group of Hong Kong and Barcelona Housing Systems of Barcelona to build environmentally friendly modular housing, now starts a five-month review of the site and terms of the deal before final closing.

This agreement is a major milestone towards converting an unused stretch of land that represents Chicagos industrial past into a vibrant community that will contribute to Chicagos economic, cultural and recreational future, Emanuel said in his announcement. I look forward to seeing the communitys dynamic vision for this site become a reality."

The two companies were rumored to be close to a deal forthe site that stretches from79th Street to the Calumet River east of Lake Shore Drive as early as January.

We are excited by the tremendous opportunity available at the South Works site and look forward to working throughout this due diligence period to determine the best path forward, said Barry ONeill, CEO of Emerald Living.

Over the coming months, we will be working with the city, Aldermen [Susan]Sadlowski Garza and [Greg] Mitchell, local community membersand other stakeholders to develop a new, exciting vision for this site and the surrounding South Chicago neighborhoods.

The master plan that the groups released in January proposed a series of low-rise apartment buildings mixed with retail and commercial space alongside amenities like a new harbor.

The group is currently involved in similar projects in Chile andCroatia and a $1.3 billion project in Spain for 8,000 housing units, with the first 4,000 expected to be completed in 2018, a little more than two years after the project was announced.

This technology provides an industrial platform for large-scale housing construction, enabling rapid site assembly with high-quality materials, while promoting green technology, environmental sustainability, and community living, said Cesar Ramirez Martinell, founder of Barcelona Housing Systems.

The South Works project would appear to be the first project in the United States for the group.

Foreign developers have been tripped up by Chicago's planning process in the past and the South Works site will also have to contend with organized groups calling for a community benefits agreement before any construction starts.

Word of the sale comes almost exactly a year after U.S. Steel put the property up for sale afterdeciding it didnt want to be a direct partner in the developing the property. There was speculation over the last year that the property had become too big for a single development and would be split up.

But in January, developers were back proposing mega-developments for the site, including a partnership between Spanish and Chinese firms proposing modular 12,000 modular houses.

Ald. Greg Mitchell said the project could be a catalyst to spark growth across the 7th ward.

"After hours of meetings, prudenceand due diligence, we are close to completing this important first step, Mitchell said.I'm looking forward to continuing the progress and bringing much needed investment and development to my community."

Ald. SadlowskiGarza (10th) represents the southern half of the site.

The hard working men and women who were once employed on this property helped produce the steel you see everyday in the City of Chicago, Garza said. This is an opportunity to restore that sense of pride and show off the beautiful lakefront on the southeast side to the rest of the city and the world.

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Shrinking Bat DNA and Elastic Genomes – Quanta Magazine

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Parsing the creatures 2 billion base pairs, Feschotte and his colleagues did stumble on something strange. We found some very weird transposons, he said. Because these oddball parasite sequences didnt appear in other mammals, they were likely to have invaded after bats diverged from other lineages, perhaps picked up from an insect snack some 30 to 40 million years ago. Whats more, they were incredibly active. Probably 20 percent or more of the bats genome is derived from this fairly recent wave of transposons, Feschotte said. It raised a paradox because when we see an explosion of transposon activity, wed predict an increase in size. Instead, the bat genome had shrunk. So we were puzzled.

There was only one likely explanation: Bats must have jettisoned a lot of DNA. When Kapusta joined Feschottes lab in 2011, her first project was to find out how much. By comparing transposons in bats and nine other mammals, she could see which pieces many lineages shared. These, she determined, must have come from a common ancestor. Its really like looking at fossils, she said. Researchers had previously assembled a rough reconstruction of the ancient mammalian genome as it might have existed 100 million years ago. At 2.8 billion base pairs, it was nearly human-size.

Next, Kapusta calculated how much ancestral DNA each lineage had lost and how much new material it had gained. As she and Feschotte suspected, the bat lineages had churned through base pairs, dumping more than 1 billion while accruing only another few hundred million. Yet it was the other mammals that made their jaws drop.

Mammals are not especially diverse when it comes to genome size. In many animal groups, such as insects and amphibians, genomes vary more than a hundredfold. By contrast, the largest genome in mammals (in the red viscacha rat) is only five times as big as the smallest (in the bent-wing bat). Many researchers took this to mean that mammalian genomes just dont have much going on. As Susumu Ohno, the noted geneticist and expert in molecular evolution, put it in 1969: In this respect, evolution of mammals is not very interesting.

But Kapustas data revealed that mammalian genomes are far from monotonous, having reaped and purged vast quantities of DNA. Take the mouse. Its genome is roughly the same size it was 100 million years ago. And yet very little of the original remains. This was a big surprise: In the end, only one-third of the mouse genome is the same, said Kapusta, who is now a research associate in human genetics at the University of Utah and at the USTAR Center for Genetic Discovery. Applying the same analysis to 24 bird species, whose genomes are even less varied than those of mammals, she showed that they too have a lively genetic history.

No one predicted this, said J. Spencer Johnston, a professor of entomology at Texas A&M University. Even those genomes that didnt change size over a huge period of time they didnt just sit there. Somehow they decided what size they wanted to be, and despite mobile elements trying to bloat them, they didnt bloat. So then the next obvious question is: Why the heck not?

Feschottes best guess points at transposons themselves. They provide a very natural mechanism by which gain provides the template to facilitate loss, he said. Heres how: As transposons multiply, they create long strings of nearly identical code. Parts of the genome become like a book that repeats the same few words. If you rip out a page, you might glue it back in the wrong place because everything looks pretty much the same. You might even decide the book reads just fine as is and toss the page in the trash. This happens with DNA too. When its broken and rejoined, as routinely happens when DNA is damaged but also during the recombination of genes in sexual reproduction, large numbers of transposons make it easy for strands to misalign, and that slippage can result in deletions. The whole array can collapse at once, Feschotte said.

This hypothesis hasnt been tested in animals, but there is evidence from other organisms. Its not so different from what were seeing in plants with small genomes, Leitch said. DNA in these species is often dominated by just one or two types of transposons that amplify and then get eliminated. The turnover is very dynamic: in 3 to 5 million years, half of any new repeats will be gone.

Thats not the case for larger genomes. What we see in big plant genomes and also in salamanders and lungfish is a much more heterogeneous set of repeats, none of which are present in [large numbers], Leitch said. She thinks these genomes must have replaced the ability to knock out transposons with a novel and effective way of silencing them. What they do is, they stick labels onto the DNA that signal to it to become very tightly condensed sort of squished so it cant be read easily. That alteration stops the repeats from copying themselves, but it also breaks the mechanism for eliminating them. So over time, Leitch explained, any new repeats get stuck and then slowly diverge through normal mutation to produce a genome full of ancient degenerative repeats.

Meanwhile, other forces may be at play. Large genomes, for instance, can be costly. Theyre energetically expensive, like running a big house, Leitch said. They also take up more space, which requires a bigger nucleus, which requires a bigger cell, which can slow processes like metabolism and growth. Its possible that in some populations, under some conditions, natural selection may constrain genome size. For example, female bow-winged grasshoppers, for mysterious reasons, prefer the songs of males with small genomes. Maize plants growing at higher latitudes likewise self-select for smaller genomes, seemingly so they can generate seed before winter sets in.

Some experts speculate that a similar process is going on in birds and bats, which may need small genomes to maintain the high metabolisms needed for flight. But proof is lacking. Did small genomes really give birds an advantage in taking to the skies? Or had the genomes of birds flightless dinosaur ancestors already begun to contract for some other reason, and did the physiological demands of flight then shrink the genomes of modern birds even more? We cant say whats cause and effect, Suh said.

Its also possible that genome size is largely a result of chance. My feeling is theres one underlying mechanism that drives all this variability, said Mike Lynch, a biologist at Indiana University. And thats random genetic drift. Its a principle of population genetics that drift whereby a genetic variant becomes more or less common just by sheer luck is stronger in small groups, where theres less variation. So when populations decline, such as when new species diverge, the odds increase that lineages will drift toward larger genomes, even if organisms become slightly less fit. As populations grow, selection is more likely to quash this trait, causing genomes to slim.

None of these models, however, fully explain the great diversity of genome forms. The way I think of it, youve got a bunch of different forces on different levels pushing in different directions, Gregory said. Untangling them will require new kinds of experiments, which may soon be within reach. Were just at the cusp of being able to write genomes, said Chris Organ, an evolutionary biologist at Montana State University. Well be able to actually manipulate genome size in the lab and study its effects. Those results may help to disentangle the features of genomes that are purely products of chance from those with functional significance.

Many experts would also like to see more analyses like Kapustas. (Lets do the same thing in insects! Johnston said.) As more genomes come online, researchers can begin to compare larger numbers of lineages. Four to five years from now, every mammal will be sequenced, Lynch said, and well be able to see whats happening on a finer scale. Do genomes undergo rapid expansion followed by prolonged contraction as populations spread, as Lynch suspects? Or do changes happen smoothly, untouched by population dynamics, as Petrovs and Feschottes models predict and recent work in flies supports?

Or perhaps genomes are unpredictable in the same way life is unpredictable with exceptions to every rule. Biological systems are like Rube Goldberg machines, said Jeff Bennetzen, a plant geneticist at the University of Georgia. If something works, it will be done, but it can be done in the most absurd, complicated, multistep way. This creates novelty. It also creates the potential for that novelty to change in a million different ways.

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Shrinking Bat DNA and Elastic Genomes - Quanta Magazine

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Whole genome sequencing identifies cause of zoonotic epidemic – Phys.Org

Posted: at 5:47 pm

August 1, 2017

For the first time, researchers have used whole genome sequencing to identify the cause of a zoonotic infection that sparked a national epidemic. In a study published this week in mBio, an open-access journal of the American Society for Microbiology, researchers describe their use of whole genome sequencing to determine the cause of a respiratory disease that ripped through a population of native horses in Iceland several years ago.

"Our study showed that you can use genomic sequencing to tell epidemic strains from endemic strains," said principal study investigator Andrew Waller, PhD, head of bacteriology, Animal Health Trust, Suffolk, United Kingdom.

The Icelandic horse population is geographically isolated, arising from animals introduced by settlers in the ninth and tenth centuries. Virtually no horses have been imported in the last thousand years. This isolation has kept Icelandic horses free from the most common contagious equine diseases. In 2010, a respiratory disease of unknown origin spread through almost the entire population of 77,000 native horses in Iceland. The disease involved coughing, nasal discharge, and high morbidity. "Iceland was so worried about what was causing it that they stopped exporting horses to the rest of the world," said Dr. Waller. "It had a big impact on their economy, as they breed and sell a lot of horses each year."

A team of scientists at the University of Reykjavik performed microbiological investigations and ruled out known viral agents, but identified the gram-positive bacterium Streptococcus zooepidemicus from almost all of the nasal swabs taken from coughing horses and from the diseased tissues of occasional fatal cases. The bacteria is routinely isolated from healthy horses and widely considered to be commensal, but because it was so ubiquitous during the outbreak, the researchers began to think it could be the culprit.

Scientists at the Wellcome Trust Sanger Institute performed whole genome sequencing on 305 isolates of S. zooepidemicus: 257 from the epidemic including from 100 horses, two cats, one dog, and three people. They compared the recent isolates to ten archived Icelandic isolates of S. zooepidemicus from seven horses, two sheep and a dog to provide insight into the identity of historical isolates of S. zooepidemicus from Iceland, and to 38 isolates, which represented the wider population diversity of the bacteria beyond Iceland.

The majority of S. zooepidemicus isolates recovered during the epidemic fell into four distinct clades. "ST209 stood out as likely to be responsible for the epidemic," said Dr. Waller. The epidemic ST209 strain was also recovered from a cat and the blood sample of an Icelandic woman who had suffered a miscarriage.

Network analysis of affected farms identified a single common training yard as a primary center of transmission and demonstrated how a novel strain can spread rapidly through a susceptible population devoid of sufficient cross-protective immunity, despite a background of concomitant colonization with endemic strains. The most likely route of transmission of the epidemic strain at this yard, a water treadmill that horses used on a daily basis, did not contain disinfectant and was changed on a once- or twice-weekly basis. This provided ideal conditions for the transmission of S. zooepidemicus between visiting horses. Adding chlorine coupled with regular cleaning and disinfection of water treadmills may minimize or eliminate the transmission of S. zooepidemicus or other infectious agents via this route.

Previously, researchers have used whole genome sequencing to determine how germs spread through a hospital, but this is the first time the technology has been used to track the outbreak of a zoonotic disease. "This study enabled us to identify which strains were normally present in the Icelandic horse population and which was the epidemic strain that was causing the problem and that is very new," said Dr. Waller. "It was great to be able to show that this particular strain had spread so quickly through the whole population, and as far as we are aware, that has not been done before using whole genome sequencing."

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Whole genome sequencing identifies cause of zoonotic epidemic - Phys.Org

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Rare whole genome duplication during spider evolution could … – Phys.Org

Posted: at 5:47 pm

July 31, 2017 Credit: CC0 Public Domain

In collaboration with scientists from the U.K., Europe, Japan and the United States, researchers at the Human Genome Sequencing Center at Baylor College of Medicine have discovered a whole genome duplication during the evolution of spiders and scorpions. The study appears in BMC Biology.

Researchers have long been studying spiders and scorpions for both applied reasons, such as studying venom components for pharmaceuticals and silks for materials science, and for basic questions such as the reasons for the evolution and to understand the development and ecological success of this diverse group of carnivorous organisms.

As part of a pilot project for the i5K, a project to study the genomes of 5,000 arthropod species, the Human Genome Sequencing Center analyzed the genome of the house spider Parasteatoda tepidariorum a model species studied in laboratories and the Arizona bark scorpion Centruroides sculpturatus, the most venomous scorpion in North America.

Analysis of these genomes revealed that spiders and scorpions evolved from a shared ancestor more than 400 million years ago, which made new copies of all of the genes in its genome, a process called whole genome duplication. Such an event is one of the largest evolutionary changes that can happen to a genome and is relatively rare during animal evolution.

Dr. Stephen Richards, associate professor in the Human Genome Sequencing Center, who led the genome sequencing at Baylor, said, "It is tremendously exciting to see rapid progress in our molecular understanding of a species that we coexist with on planet earth. Spider genome analysis is particularly tricky, and we believe this is one of the highest quality spider genomes to date."

Similarly, there also have been two whole genome duplications at the origin of vertebrates, fuelling long-standing debate as to whether the duplicated genes enabled new biological complexity in the evolution of the vertebrate lineage leading to mammals. The new finding of a whole genome duplication in spiders and scorpions therefore provides a valuable comparison to the events in vertebrates and could help reveal genes and processes that have been important to our own evolution.

"While most of the new genetic material generated by whole genome duplication is subsequently lost, some of the new gene copies can evolve new functions and may contribute to the diversification of shape, size, physiology and behavior of animals," said Dr. Alistair McGregor, professor of evolutionary developmental biology at Oxford Brookes University and lead author of the research. "Comparing the whole genome duplication in spiders and scorpions with the independent events in vertebrates reveals a striking similarity. In both cases, duplicated clusters of Hox genes have been retained. These are very important genes that regulate development of body structures in all animals, and therefore can cause evolutionary changes in animal body plans."

The study also found that the copies of spider Hox genes show differences in when and where they are expressed, suggesting they have evolved new functions.

McGregor explains that these changes may help clarify the evolutionary innovations in spiders and scorpions including specialized limbs and how they breathe, as well as the production of different types of venom and silk, which spiders use to capture and kill their prey.

"Many people fear spiders and scorpions, but this research shows what a beautiful part of the evolutionary tree they represent," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center and the Wofford Cain Chair and professor of molecular and human genetics at Baylor.

"Costs have now dropped rapidly enough from tens of millions of dollars to merely a few thousand dollars for this genomic analyses to now be performed on any species," Richards said. "There is still so much more to learn about the life on earth around us, and I believe this result is just the beginning of understanding the molecular make up of spiders."

Explore further: Flowers' genome duplication contributes to their spectacular diversity

More information: Evelyn E. Schwager et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution, BMC Biology (2017). DOI: 10.1186/s12915-017-0399-x

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