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Category Archives: Transhuman News

Scientists Have Found a Way to Reverse the Signs of Aging – Futurism

Posted: March 9, 2017 at 2:44 am

Why We Age

In the absence of an actual fountain of youth, people have turned to drugs, creams, and even blood to prevent aging. But it turns out one of the best ways to combat the inevitable was right under our noses all alongexercise.

As we get older our cells lose their ability to generate energy effectively, which leads to the physical changeswe associate with aging.Researchled by Sreekumaran Nair at the Mayo Clinic reveals that high intensity interval training (HIIT) can help reverse those effects.

The study includedvolunteers from two age groups, one between 18 and 30, and the otherbetween 65 to 80. These groups were then divided into three: one received HIIT, another received weight training, and the third group was given a combination of both. All volunteers had to engage in the regimen for three months, and muscle biopsies were taken before and after for comparison.

Aging actually happens at a cellular level. As the mitochondria (the powerhouse of the cell) declines with age, it leads to many age-related conditions everything from worsening eyesight to cancer. HIIT training which involves short bursts of intense physical activity, mixed with periods of lower-intensity exercise can apparently boost the mitochondrias ability to generate energy by 69 percent among older subjects, and 49 percent in a younger group.

Perhaps the most telling sign of cellular aging is when the body begins to have difficultywith specific functions, such as the muscles ability to burn excess blood sugar which could lead to diabetes. HIIT training lead to not just a halt in thedecline, but evenreversed it. After three months of interval training, everything converged towards what we saw in young people, says Nair.

In addition to positive impacton a cellular level, the training also provideda major improvement in lung, heart, and circulation health. The amount of oxygen the younger groupcould inhale rose by 28 percent, androse by 17 percent among the older volunteers.

Among the group that was given weight training instead of HIIT, no mitochondrial or respiratory improvements were observed. Under this exercise regimen, the best benefit received was gaining muscle mass. In the group that received a combination of both, oxygen consumption rose by 21 percent among older volunteers, and showed intermediate results.In a statement announcing their research, Dr. Nair said:

Other research centered around anti-aging efforts are also making significant strides: a drug called metformin, which has long been used to treat diabetes, has just been approved for clinical trials involving its potentialage-related applications. A separate study claims to have formulated a drug that can help slow down the aging process. Having a deeper understanding of genetics has also helped scientists gainnew insights into how we can effectively slow physical aging and the onset of age-related diseases.

Given these findings, combined with numerous breakthroughs in the field, we may be closer to the fountain of youth than we think.

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MIT Tech Lets You Control Robots With Your Thoughts – Futurism

Posted: at 2:44 am

Mind Control

One reasonhumans fear robots and autonomous technologies in general is the potential for them to spiral out of our control (perhaps taking over the world while theyre at it). Since wedont yet know exactly how technological singularity would play out, for now, robots taking over the world remains just science fiction.

To that end, heres something that might appease those who worry a lot about machines taking over the world. Technology currently in development at Massachusetts Institute of Technologys (MIT) Computer Science and Artificial Intelligence Laboratory (CSAIL), together with researchers from Boston University, is working on a way to give robots command using brain signals.Essentially, this letspeople control robots using onlytheir minds.

Researcherscreated a feedback system that allows robots to correct their mistakes easily. This system uses brain activity data from an electroencephalography (EEG) monitor, scanning for brain signals called error-related potentials (ErrPs). ErrPs are generated whenever the brain notices a mistake.

This feedback mechanism works in real time, thanks to the teams machine-learning algorithms that makes the system capable of classifying brain waves in just 10 to 20 milliseconds. As you watch the robot, all you have to do is mentally agree or disagree with what it is doing, explained CSAIL director Daniela Rus, senior author of the teams research paper which was accepted for the IEEE International Conference on Robotics and Automation (ICRA) which will take place in May. You dont have to train yourself to think in a certain way the machine adapts to you, and not the other way around.

Of course, monitoring ErrPs is just one piece of the puzzle.To be able to control a robot fully using the human brain, it would take more than than just reading a couple of brain signals. But this research on more intuitive human-robot interaction opens up possibilities for application in real-world setups that require a person to control robots. For example, managing robot assembly lines in factories or autonomous driving systems.

Imagine being able to instantaneously tell a robot to do a certain action, without needing to type a command, push a button or even say a word, Rus said. A streamlined approach like that would improve our abilities to supervise factory robots, driverless cars, and other technologies we havent even invented yet.

University of Freiburg computer science professor Wolfram Burgard commented onthis technologys potentialfor developing effective tools for brain-controlled robots and prostheses. Burgard, who wasnt part of the study, also added, Given how difficult it can be to translate human language into a meaningful signal for robots, work in this area could have a truly profound impact on the future of human-robot collaboration.

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Coldest Spot in Universe Should Soon Be Aboard International Space Station – Space.com

Posted: March 8, 2017 at 12:52 pm

The International Space Station (ISS) will soon host the coldest spot in the entire universe, if everything goes according to plan.

This August, NASA plans to launch to the ISS an experiment that will freeze atoms to only 1 billionth of a degree above absolute zero more than 100 million times colder than the far reaches of deep space, agency officials said.

The instrument suite, which is about the size of an ice chest, is called the Cold Atom Laboratory (CAL). It consists of lasers, a vacuum chamber and an electromagnetic "knife" that together will slow down gas particles until they are almost motionless. (Remember that temperature is just a measurement of how fast atoms and molecules are moving.) [Watch a video about the CAL]

If successful, CAL could help unlock some of the universe's deepest mysteries, project leaders said.

"Studying these hypercold atoms could reshape our understanding of matter and the fundamental nature of gravity," Robert Thompson, a CAL project scientist at NASA's Jet Propulsion Laboratory (JPL) in Pasadena, California, said in a statement. "The experiments we'll do with the Cold Atom Lab will give us insight into gravity and dark energy some of the most pervasive forces in the universe."

Artist's illustration of an atom chip for use by NASA's Cold Atom Laboratory (CAL), which will use lasers to cool atoms to ultracold temperatures. CAL is scheduled to launch to the space station in August 2017.

Attempts to create Bose-Einstein condensates on Earth have been only partially successful to date. Because everything on Earth is subject to the pull of gravity, atoms and molecules tend to move toward the ground. This means the effects can only be seen for fractions of a second. In space, where the ISS is in perpetual freefall, CAL could preserve these structures for 5 to 10 seconds, NASA officials said. (Future versions of CAL may be able to hold on for hundreds of seconds, if technology improves as expected, officials added.)

The researchers hope CAL observations will lead to the improvement of several technologies, such as quantum computers, atomic clocks for spacecraft navigation and sensors of various types including some that could help detect dark energy. The current model of the universe suggests we can only see about 5 percent of what's out there. The remainder is split between dark matter (27 percent) and dark energy (68 percent).

"This means that even with all of our current technologies, we are still blind to 95 percent of the universe," JPL's Kamal Oudrhiri, CAL deputy project manager, said in the same statement. "Like a new lens in Galileo's first telescope, the ultra-sensitive cold atoms in the Cold Atom Lab have the potential to unlock many mysteries beyond the frontiers of known physics."

CAL, which was developed at JPL, is scheduled to fly to the ISS this August aboard SpaceX's robotic Dragon cargo capsule. Final testing is underway ahead of CAL's shipment to the launch pad in Cape Canaveral, Florida, NASA officials said.

Follow Elizabeth Howell @howellspace, or Space.com @Spacedotcom. We're also on Facebook and Google+. Original article on Space.com.

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Experiment aboard space station studies ‘space weather’ – Cornell Chronicle

Posted: at 12:52 pm

Zach Tejral, NASA Johnson Spaceflight Center/Provided

Steven Powell, research engineer in the department of electrical and computer engineering, is pictured with the Cornell GPS antenna array in a clean room at the NASA/Johnson Space Center in Houston, Texas. The array is currently mounted on the truss structure of the International Space Station.

The weather here on Earth has been a little strange this winter 60-degree days, followed by blinding snow, only to be followed by 50s and rain but for Steven Powell, the weather hes interested in cant be felt by humans or measured by barometric pressure.

Powell, research support specialist in electrical and computer engineering, is concerned with space weather charged particles in the plasma of space, on the edge of the Earths atmosphere. These particles affect the performance of communications and navigation satellites.

To study conditions in the ionosphere, a band between 50 and 600 miles above the Earth, Powell and others in the College of Engineering have developed the FOTON (Fast Orbital TEC for Orbit and Navigation) GPS receiver, which was built in a Rhodes Hall lab. Last month, the FOTON hitched a ride aboard the SpaceX Falcon 9 rocket to begin a long-term project at the International Space Station.

The project, which could last two years, is called GROUP-C (GPS Radio Occultation and Ultraviolet Photometry-Colocated), and is headed by Scott Budzien of the Naval Research Laboratory. Powell is the Cornell principal investigator for the project; other Cornell contributors include Mark L. Psiaki, professor of mechanical and aerospace engineering (retired); David Hysell, professor of earth and atmospheric sciences; Todd Humphreys, Ph.D. 08; and Brady OHanlon, Ph.D. 16.

Also contributing was the late electrical and computer engineering professor Paul Kintner, who died in November 2010. Kintner was responsible for the original ionospheric research that formed the scientific basis for GROUP-C, Powell said.

The FOTON is a highly sensitive GPS receiver, designed to withstand the rigors of spaceflight while detecting subtle fluctuations in the signals from GPS satellites.

These fluctuations help us learn about the ionosphere in which the signals travel, said Powell, who returned to Ithaca in early March after spending six weeks in Alaska on a project to send two sounding rockets into the aurora borealis, also to study the ionosphere.

These fluctuations are typically filtered out by standard GPS receivers, he said, but they are the scientific gold nuggets in the data analysis process.

NASA Johnson Spaceflight Center/Provided

The STP-H5 palette of instruments being maneuvered by the robotic arm on the International Space Station. The Cornell antenna array is visible just to the right of the "Canada" logo. This photo was taken during the installation process.

Powells experiment is one of a number of projects studying the Earths atmosphere and ionosphere. It shares a mounting palette on the outside of the ISS, receives power from large solar arrays, and uses the data communications system onboard the station to quickly distribute data back to Earth.

Powell and Hysell will collect data from the GROUP-C experiment.

GROUP-Cs position onboard the ISS will allow it to study the ionosphere at an edge-on perspective, Powell said, to measure variations in electron density. The Cornell teams GPS receiver and antenna actually a suite of three antennas, configured to maximize GPS signals and minimize unwanted reflections from the large metal portions of the ISS will focus on GPS satellites as they move across the sky and set behind the Earth.

As they set, Powell said, the radio signals travel through the ionosphere and are subtly delayed by the denser regions of the ionosphere. From that, we obtain a vertical profile of the electron density, he said.

This experiment builds on a short-duration NASA sounding-rocket mission Powell led in 2012, which was sent into the aurora to study the ionosphere at high latitudes, near the North Pole.

This experiment will allow us to study different, but equally interesting, effects in the ionosphere closer to the equator, where most of the worlds population lives, Powell said.

The Feb. 19 liftoff of the SpaceX rocket, and docking with the ISS four days later, was the culmination of a nearly four-year effort to get GROUP-C built.

It was extremely exciting and satisfying to see the GROUP-C experiment [launch], Powell said. Ive been involved in more than 50 space-based research efforts over a 30-year period, but most have been using suborbital NASA sounding rockets, with mission durations of just 10 to 30 minutes.

The GROUP-C experiment duration will last up to two years, he said, so the quantity of data and the potential for meaningful scientific discovery is huge.

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Chanel Space Station Fall 2017 Show Paris Fashion Week – Chanel … – HarpersBAZAAR.com

Posted: at 12:52 pm

You can always count on an out-of-this-world runway set at Chanel but today, Karl Lagerfeld quite literally took things out of this world at Paris Fashion Week. For its Fall 2017 show, Chanel created its own space station inside Paris's iconic Grand Palais and it was nothing short of epic.

The show was heralded by a life-size Chanel rocket ship stationed at the center of the runway, which made for the perfect backdrop to Lagerfeld's futuristic, galactic-inspired set.

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Below, here's what to know from the #ChanelGroundControl show:

1) For the finale, the Chanel rocket actually blasted offsmoke includedfollowing a dramatic 10-second countdown. Models lined up and Elton John's "Rocket Man" played (which I imagine is the only song NASA uses for takeoff as well) as the Chanel branded rocket took off.

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2) Chanel ambassadors Pharrell Williams, Cara Delevingne and Lily-Rose Depp sat next to each other front row.

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REVEALED: US made secret Cold War manned space station to SPY on Russia – Express.co.uk

Posted: at 12:52 pm

GETTY

From December 1963 to June 1969, the US Air Force spent upwards of $1.5billion on a project known as the Manned Orbiting Laboratory (MOL) which was eventually cancelled.

Due to the sensitive and classified nature of the project in the height of the Cold War, it is difficult to understand exactly what the US was trying to achieve at the time.

One of the declassified documents, which were released by the US National Reconnaissance Office (NRO), goes so far as to ask: "Is the MOL a laboratory? Or is it an operational reconnaissance spacecraft? (Or a bomber?)"

However, other documents show that one of the goals was to spy on the Soviet Union.

1 of 15

NRO

Michael Yarymovych, who was at the time technical director of the MOL project, said: "We were doing something that was exciting and important.

"We're going to also do something very important for national security. We are going to go look behind the Iron Curtain defend the nation while doing the exciting things of manned spaceflight.

NRO

Despite spending over six years and the best part of $2billion on the project, the MOL never actually came to fruition as it was plagued by overspending on perpetual delays.

GETTY

However, there were positives that came out of it, such as the remodelling of NASA's two-seat Gemini spacecraft and the development of the Titan-3C launch vehicle.

The research that went into it also helped America become the first nation to land people on the moon in 1969 when Neil Armstrong and Buzz Aldrin, with Michael Collins piloting the module, stepping foot on the lunar satellite.

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A new tool for genetically engineering the oldest branch of life – Phys.Org

Posted: at 12:51 pm

March 8, 2017 G. William Arends Professor of Microbiology and theme leader of the IGB's Mining Microbial Genomes theme Bill Metcalf, left, with IGB Fellow Dipti Nayak. Credit: University of Illinois at Urbana-Champaign

A new study by G. William Arends Professor of Microbiology at the University of Illinois Bill Metcalf with postdoctoral Fellow Dipti Nayak has documented the use of CRISPR-Cas9 mediated genome editing in the third domain of life, Archaea, for the first time. Their groundbreaking work, reported in Proceedings of the National Academy of Sciences, has the potential to vastly accelerate future studies of these organisms, with implications for research including global climate change. Metcalf and Nayak are members of the Carl R. Woese Institute for Genomic Biology at Illinois.

"Under most circumstances our model archaeon, Methanosarcina acetivorans, has a doubling time of eight to ten hours, as compared to E. coli, which can double in about 30 minutes. What that means is that doing genetics, getting a mutant, can take monthsthe same thing would take three days in E. coli," explains Nayak. "What CRISPR-Cas9 enables us to do, at a very basic level, is speed up the whole process. It removes a major bottleneck... in doing genetics research with this archaeon.

"Even more," continues Nayak, "with our previous techniques, mutations had to be introduced one step at a time. Using this new technology, we can introduce multiple mutations at the same time. We can scale up the process of mutant generation exponentially with CRISPR."

CRISPR, short for Clustered Regularly Interspaced Short Palindromic Repeats, began as an immune defense system in archaea and bacteria. By identifying and storing short fragments of foreign DNA, Cas (CRISPR-associated system) proteins are able to quickly identify that DNA in the future, so that it can then quickly be destroyed, protecting the organism from viral invasion.

Since its discovery, a version of this immune systemCRISPR-Cas9has been modified to edit genomes in the lab. By pairing Cas9 with a specifically engineered RNA guide rather than a fragment of invasive DNA, the CRISPR system can be directed to cut a cell's genome in an arbitrary location such that existing genes can be removed or new ones added. This system has been prolifically useful in editing eukaryotic systems from yeast, to plant, to fish and even human cells, earning it the American Association for the Advancement of Science's 2015 Breakthrough of the Year award. However, its implementation in prokaryotic species has been met with hurdles, due in part to their different cellular processes.

To use CRISPR in a cellular system, researchers have to develop a protocol that takes into account a cell's preferred mechanism of DNA repair: after CRISPR's "molecular scissors" cut the chromosome, the cell's repair system steps in to mend the damage through a mechanism that can be harnessed to remove or add additional genetic material. In eukaryotic cells, this takes the form of Non-Homologous End Joining (NHEJ). Though this pathway has been used for CRISPR-mediated editing, it has the tendency to introduce genetic errors during its repair process: nucleotides, the rungs of the DNA ladder, are often added or deleted at the cut site.

NHEJ is very uncommon in prokaryotes, including Archaea; instead, their DNA is more often repaired through a process known as homology-directed repair. By comparing the damage to a DNA template, homology-directed repair creates what Nayak calls a "deterministic template"the end result can be predicted in advance and tailored to the exact needs of the researcher.

In many ways, homology-directed repair is actually preferable for genome editing: "As much as we want CRISPR-Cas9 to make directed edits in eukaryotic systems, we often end up with things that we don't want, because of NHEJ," explains Nayak. "In this regard, it was a good thing that most archaeal strains don't have a non-homologous end joining repair system, so the only way DNA can be repaired is through this deterministic homologous repair route."

Though it may seem counter-intuitive, one of Nayak and Metcalf's first uses of CRISPR-Cas9 was to introduce an NHEJ mechanism in Methanosarcina acetivorans. Though generally not preferable for genome editing, says Nayak, NHEJ has one use for which it's superior to homologous repair: "If you just want to delete a gene, if you don't care how ... non-homologous end joining is actually more efficient."

By using the introduced NHEJ repair system to perform what are known as "knock-out" studies, wherein a single gene is removed or silenced to see what changes are produced and what processes that gene might affect, Nayak says that future research will be able to assemble a genetic atlas of M. acetivorans and other archaeal species. Such an atlas would be incredibly useful for a variety of fields of research involving Archaea, including an area of particular interest to the Metcalf lab, climate change.

"Methanosarcina acetivorans is the one of the most genetically tractable archaeal strains," says Nayak. "[Methanogens are] a class of archaea that produce gigatons of this potent greenhouse gas every year, play a keystone role in the global carbon cycle, and therefore contribute significantly to global climate change." By studying the genetics of this and similar organisms, Nayak and Metcalf hope to gain not only a deeper understanding of archaeal genetics, but of their role in broader environmental processes.

In all, this research represents an exciting new direction in studying and manipulating archaea. "We began this research to determine if the use of CRISPR-Cas9 genome editing in archaea was even possible," concludes Nayak. "What we've discovered is that it's not only possible, but it works remarkably well, even as compared to eukaryotic systems."

Explore further: Modifying fat content in soybean oil with the molecular scissors Cpf1

More information: Dipti D. Nayak et al, Cas9-mediated genome editing in the methanogenic archaeon, Proceedings of the National Academy of Sciences (2017). DOI: 10.1073/pnas.1618596114

A team from the Center for Genome Engineering, within the Institute for Basic Research (IBS), succeeded in editing two genes that contribute to the fat contents of soybean oil using the new CRISPR-Cpf1 technology: an alternative ...

Although the genome editing system known as CRISPR/Cas has revolutionized genetic research in cell lines, its overall efficiency has been relatively poor when used to generate genetically altered animals for disease modeling. ...

Researchers from Memorial Sloan Kettering Cancer Center (MSK) have harnessed the power of CRISPR/Cas9 to create more-potent chimeric antigen receptor (CAR) T cells that enhance tumor rejection in mice. The unexpected findings, ...

Rest easy, folks. Armies of genetically modified super-species are unlikely to conquer Earth anytime soon.

A unique gene-editing method that efficiently inserts DNA into genes located in dividing and non-dividing cells of living rats has been developed by a team of international researchers, including scientists from KAUST.

CRISPR-Cas9 is a powerful new tool for editing the genome. For researchers around the world, the CRISPR-Cas9 technique is an exciting innovation because it is faster and cheaper than previous methods. Now, using a molecular ...

An international research team has discovered a biochemical pathway that is responsible for the development of moss cuticles. These waxy coverings of epidermal cells are the outer layer of plants and protect them from water ...

The International Potato Center (CIP) launched a series of experiments to discover if potatoes can grow under Mars atmospheric conditions and thereby prove they are also able to grow in extreme climates on Earth. This Phase ...

A new study by G. William Arends Professor of Microbiology at the University of Illinois Bill Metcalf with postdoctoral Fellow Dipti Nayak has documented the use of CRISPR-Cas9 mediated genome editing in the third domain ...

A new study involving biologists from Monash University Australia has found that despite their very different ancestors, dolphins and crocodiles evolved similarly-shaped skulls to feed on similar prey.

Proteins, those basic components of cells and tissues, carry out many biological functions by working with partners in networks. The dynamic nature of these networks - where proteins interact with different partners at different ...

New research from the University of St Andrews has sparked debate about what it takes to live in stable, long-lasting social groups.

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New species concept based on mitochondrial & nuclear DNA coadaptation – Phys.Org

Posted: at 12:50 pm

March 8, 2017 Hybrids between Blue-winged and Golden-winged warblers -- sometimes called "Brewster's" warblers -- pose a challenge for ornithologists trying to agree on how to define species. Credit: Lloyd Spitalnik

What is a species? Biologistsand ornithologists in particularhave been debating the best definition for a very long time. A new commentary published in The Auk: Ornithological Advances proposes a novel concept: that species can be defined based on the unique coadaptations between their two genomes, one in the nuclei of their cells and the other in their mitochondria.

All animals have two sets of genes, one in the cell nucleus and one in organelles called mitochondria, and these two sets of DNA work together to enable cellular respiration and energy production. If they're mismatched, the result is reduced energy output and increased production of damaging free radicals. While the most commonly used species definition is based on the idea that isolated populations slowly accumulate changes in their nuclear genes that make interbreeding impossible, Auburn University's Geoffrey Hill proposes a new twist on the species conceptthat speciation is really the divergence of sets of coadapted mitochondrial and nuclear genes. Interspecies hybrids, his theory suggests, have reduced fitness due their mismatched genomes' reduced ability to work together in the cell.

Past studies have shown that mitochondrial genotype tends to be very good at showing species boundaries between birds. This "mitonuclear compatibility species concept" helps explain the fact that the abrupt transitions between mitochondrial genotypes at species boundaries correspond with abrupt transitions in songs, plumage patterns, and female mating preferences. Interestingly, two closely related species that have recently been documented to have extensively intermingled nuclear genesBlue-winged and Golden-winged warblersalso show an abrupt transition in mitochondrial genes.

"Almost all ornithologists who write and think about avian speciation study phylogeographythe geographical distribution and genetic structure of bird populations," says Hill. "In contrast, I study bird ornamentation and, particularly, bird coloration. It was the discovery that ornaments signal mitochondrial type that led to my sudden realization that mitochondrial typeor, more accurately, coadapted sets of mitochondrial and nuclear genesdefine species boundaries. I don't think I would have ever seen the pattern if I had come at the question from a phylogeographic perspective."

"This is an intriguing and controversial ideathat mitonuclear incompatibilities could be so central to generating new avian speciesand I see this as a call for more research into how these incompatibilities might manifest themselves in young species," says avian evolutionary biologist David Toews of Cornell University. "The functional aspects of mitochondrial genes have, in particular, received little attention from the ornithological community, and it will be interesting to see how these ideas play with additional empirical studies going forward."

Explore further: The science of replacing mitochondrial DNA and what remains unknown

More information: "The mitonuclear compatibility species concept," The Auk: Ornithological Advances, March 8, 2017, americanornithologypubs.org/doi/full/10.1642/AUK-16-201.1

Provided by: American Ornithological Society Publications Office

An international research team has discovered a biochemical pathway that is responsible for the development of moss cuticles. These waxy coverings of epidermal cells are the outer layer of plants and protect them from water ...

The International Potato Center (CIP) launched a series of experiments to discover if potatoes can grow under Mars atmospheric conditions and thereby prove they are also able to grow in extreme climates on Earth. This Phase ...

A new study by G. William Arends Professor of Microbiology at the University of Illinois Bill Metcalf with postdoctoral Fellow Dipti Nayak has documented the use of CRISPR-Cas9 mediated genome editing in the third domain ...

A new study involving biologists from Monash University Australia has found that despite their very different ancestors, dolphins and crocodiles evolved similarly-shaped skulls to feed on similar prey.

Proteins, those basic components of cells and tissues, carry out many biological functions by working with partners in networks. The dynamic nature of these networks - where proteins interact with different partners at different ...

New research from the University of St Andrews has sparked debate about what it takes to live in stable, long-lasting social groups.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

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How This Medical Student Brought DNA Testing To Women In Trinidad and Tobago – Fast Company

Posted: at 12:50 pm

By Christina Farr 03.08.17 | 7:00 am

Gerneiva Parkinson grew up in Trinidad and Tobago, a Caribbean nation off the coast of Venezuela known for its mangrove swamps and lush rainforests. But for Parkinson and many other young women, island life had a dark side.

Throughout her childhood, Parkinsons friends mothers and other women in the community were mysteriously getting sick in their thirties and forties. The diagnosis, as she later learned, was breast cancer. These are women with young children dying in their prime, but its common in Trinidad, she tells me. Infectious disease is well-studied, but cancer was, and still is, very taboo.

I met Parkinson at the headquarters of Color Genomics, a Silicon Valley-based startup founded by former Google and Twitter executives. Parkinson was invited to the companys offices to deliver a presentation on the high rates of breast cancer in her home country, and her journey to understand the roots of the disease. When it came to cancer, it has been really hard to get answers, even as a biology student, Parkinson explained to the team.

Color Genomics is one of a growing number of U.S. companies that leverage DNA sequencing to answer a wide variety of questions about disease. The price of such technologies have dropped significantly over the past few decades. In 2001, it cost $100 million to sequence a human genome. Today, Color offers one of the cheapest offerings on the market, with a test to screen for a set of genes associated with hereditary cancers for just $249.

Gerneiva Parkinson receives a $250,000 research grant at Color Genomics in South San Francisco, California.Photo: courtesy of Color Genomics

Thus far, this kind of technology is still limited to the wealthiest nations, such as the U.S. and European countries, where testing is common among those with a family history of cancer or an early diagnosis. In the U.S., screening has really been incorporated into routine care for breast cancer, says Erin Hofstatter, a medical oncologist based in New Haven, Connecticut. The presence of the gene mutation is by no means a death sentence. Many informed patients seek highly effective preventative treatments to reduce the likelihood that theyll ever get sick.

For the most part, these screening tools have not reached Trinidad and Tobago. Few women in the country get tested for known cancer mutations due to the lack of awareness among doctors and patients, as well as the high price of tests. Parkinson realized a few years ago that before she could push the local Ministry of Health to change that, she needed hard data. At that point, Parkinsonwho was still a medical studenttook the unusual step of creating a study of her own.

Well before she made the connection with Color Genomics, Parkinson was awarded a research fellowship with a small amount of funding to study the breast cancer problem in Trinidad. After going door to door, she was able to raise additional capital from her parents and a handful of small local businesses. The target initially was to test 350 women, but Parkinson only had enough to pay for 60.

Still, she moved ahead with her goal to recruit a sample set of breast cancer patients from diverse backgrounds. Trinidads ethnic makeup is divided into three main categories: Those with African heritage, who were descended from slaves; East Indians, whose ancestors were laborers from the Indian subcontinent; and people of European descent.

After successfully testing the first cohort, she and Hofstatter nervously awaited the results. Both were expecting that the gene mutations would be found in no more than five patients, and that the results could be delivered ad hoc via phone. In the U.S., Hofstatter tells me, the prevalence rate is about 5% to 10%, and studies typically involve thousands of patients.

When the results came back with 15 patients, I was like, Oh my God, thats 25%, recalls Hofstatter. The researchers also discovered that it was more than just one or two gene mutations. Hofstatter immediately agreed to fly out to the country to speak to the study participants in person.

Parkinson knew that more extensive research would be necessary to convince the government to routinely pay for screening, and contacted Color Genomics to inquire about its affordable tests. The companys head of partnerships, Alicia Zhou, recalls being impressed with Parkinsons efforts: She was a medical student taking on the burden of a country.

The Color Genomics founders agreed to fly out a few team members, including Zhou, to meet with locals and better understand the challenges. The objective for us all along was to format a study that could be used to lay the groundwork for future testing, Parkinson explains.

For Color Genomics, the partnership offered an opportunity to expand genetic testing around the world. After the trip to Trinidad, the company awarded Parkinson its first research grant for $250,000 and volunteered its own genetic counselors to train local physicians. I was invited to watch as Parkinson received her award, as her parents tuned in via Skype.

Parkinson is well aware that the tasks ahead wont be quick or easy. The infrastructure that is required to move the country from a system of treatment to prevention includes access to genetic counselors; breast MRIs; reimbursement for preemptive mastectomies; funding for public health campaigns; education for primary care doctors; and more. Parkinson is also hoping to fund studies into other forms of cancer, including prostate cancer, which are also more prevalent in the islands than in most areas.

In the final moments of our meeting, I ask Parkinson and Zhou a nagging question thats been on my mind since I first heard about the breast cancer rates in Trinidad: Why? Both have theories, but no conclusive answers.

Its possible that theres an environmental cause, although that would require further public health research. As Zhou explains, there also doesnt appear to be a single founder effect, a term that refers to the loss of genetic variation that occurs when a new population is established by a small number of individuals from a larger population. Instead, the answer might be related to the ethnic diversity from decades of colonial rule: Tobago changed hands more frequently between 1650 and 1814 than any other Caribbean territory.

I think with the influx of the French and the Spanish and the Africans, these mutations happened and they never left the population, Hofstatter later explained to me by phone. Trinidad and Tobago is a small and relatively isolated country, which makes it harder for the mutation to randomly disappear within a family. Once you introduce a mutation, its really hard to get rid of it.

Christina Farr is a San Francisco-based journalist specializing in health and technology.Before joining Fast Company, Christina worked as a reporter for VentureBeat, Reuters and KQED.

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Genome Database IDs 18 More Autism Genes – PsychCentral.com

Posted: at 12:50 pm

Researchers have identified 18 additional gene variations that appear to increase the risk of autism, according to the latest study from the Autism Speaks MSSNG project, the worlds largest autism genome sequencing program.

The research, published in the journal Nature Neuroscience, involved the analysis of 5,205 whole genomes from families affected by autism. The omitted letters in MSSNG (pronounced missing) represent the missing information about autism that the research program seeks to deliver.

Its noteworthy that were still finding new autism genes, let alone 18 of them, after a decade of intense focus, said study co-author Mathew Pletcher, Ph.D., Autism Speaks vice president for genomic discovery. With each new gene discovery, were able to explain more cases of autism, each with its own set of behavioral effects and many with associated medical concerns.

So far, research using the MSSNG genomic database has identified 61 genetic variations that affect autism risk. The researchers have linked several of these variations with additional medical conditions that often accompany autism. The goal, Pletcher said, is to advance personalized treatments for autism by deepening our understanding of the conditions many subtypes.

The researchers found that many of the 18 newly identified autism genes impact the operation of a small subset of biological pathways in the brain. All of these pathways affect how brain cells develop and communicate with each other.

In all, 80 percent of the 61 gene variations discovered through MSSNG affect biochemical pathways that have clear potential as targets for future medicines, Pletcher said.

Increasingly, autism researchers are predicting that personalized, more effective treatments will be developed from understanding these common brain pathways and how different gene variations alter them.

The unprecedented MSSNG database is enabling research into the many autisms that make up the autism spectrum, said the studys senior investigator, Stephen Scherer, Ph.D.

For example, some of the genetic alterations found in the study occurred in families with one person severely affected by autism and others on the milder end of the spectrum, Scherer said.

This reinforces the significant neurodiversity involved in this complex condition, he said. In addition, the depth of the MSSNG database allowed us to identify resilient individuals who carry autism-associated gene variations without developing autism. We believe that this, too, is an important part of the neurodiversity story.

The findings reveal how whole genome sequencing can guide medical care today. For example, at least two of the autism-associated gene changes described in the paper were linked to an increased risk for seizures. Another was tied to an increased risk for cardiac defects, and yet another with adult diabetes.

The results show how whole genome sequencing for autism can provide additional medical guidance to individuals, families and their physicians, say the researchers.

Source: Autism Speaks

APA Reference Pedersen, T. (2017). Genome Database IDs 18 More Autism Genes. Psych Central. Retrieved on March 8, 2017, from https://psychcentral.com/news/2017/03/08/genome-database-ids-18-more-autism-genes/117319.html

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