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Illumina Says 228,000 Human Genomes Will Be Sequenced in 2014

Illumina Says 228,000 Human Genomes Will Be Sequenced in 2014 | Science and Technology Communication | Scoop.it

Henry Ford kept lowering the price of cars, and more people kept buying them. The San Diego–based gene sequencing company Illumina has been doing something similar with the tools needed to interpret the human genetic code.

 

A record 228,000 human genomes will be completely sequenced this year by researchers around the globe, said Francis de Souza, president of Illumina, the maker of machines for DNA sequencing, during MIT Technology Review’s EmTech conference in Cambridge, Massachusetts.

De Souza said Illumina’s estimates suggest that the number will continue to double about every 12 months, reaching 1.6 million genomes by 2017, as the technology shifts from a phase of collapsing prices to expanding use in medicine.

 

The price of sequencing a single genome has dropped from the $3 billion spent by the original Human Genome Project 13 years ago to as little as $1,000, he said.

 

During an interview, De Souza questioned whether the price would keep falling at that rate. “It’s not clear you can get another order of magnitude out of this,” he said. Instead, he said, his company’s focus is now on making DNA studies more widespread in hospitals, police labs, and other industries.

 

“The bottleneck now is not the cost—it’s going from a sample to an answer,” De Souza said. “People are saying the price is not the issue.”

Illumina’s sequencing machines, which cost as much as $1 million each, are unmatched in their speed and accuracy. But the company’s growth has rested sometimes precariously on two curves. One has been the collapsing price of sequencing. The other is the soaring demand from genome scientists and funding agencies.

 

During the EmTech conference, De Souza said Illumina’s success was due to a “hard pivot” the company made in 2006, when it got into the DNA sequencing business by acquiring Solexa, a U.K. startup, and bet its fortunes “on a technology with no sales, that no one knew if it would work.”

 

That bet succeeded spectacularly, with Illumina machines now accounting for more than 90 percent of all DNA data produced. Last year, Illumina sold $1.4 billion worth of equipment, chemicals, and tests, about 25 percent more than the year before.

 

But De Souza says Illumina is now pivoting again. This time, its big bet is that DNA sequencing will become routine in medicine, not just in research labs. To make sure that happens, he said, the company is investing in simplifying its technology, winning FDA approval for more diagnostic tests doctors could order directly, developing ways to store DNA data in the cloud, and even launching a DNA app store. “The big pivot now is to the clinic. Getting there will change everything that we do,” he said.

 

For now, most DNA sequencing is still done by science labs. Of the 228,000 genomes Illumina estimates will be sequenced this year, more than 80 percent are part of scientific research projects, De Souza said. Those include a plan that the U.K.’s government is undertaking to decode 100,000 genomes over several years.


Via Dr. Stefan Gruenwald
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Revelations of N.S.A. Spying Cost U.S. Tech Companies

Revelations of N.S.A. Spying Cost U.S. Tech Companies | Science and Technology Communication | Scoop.it
America’s cloud computing industry could lose billions of dollars in business because of the government’s surveillance program.
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Who Will Tomorrow's Historians Consider Today's Greatest Inventors?

Who Will Tomorrow's Historians Consider Today's Greatest Inventors? | Science and Technology Communication | Scoop.it
We asked leading figures in technology, science, medicine, and design for nominations. Here's what they said.
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Elon Musk, Co-Founder of PayPal, SpaceX and Tesla Motors, Janette Sadik-Khan, Commissioner of the New York City Department of Transportation, Markus Persson, Creator of Minecraft, Vint Cerf, the "Father of the Internet", Ronald. W. Davis, Professor of Biochemistry and Genetics at Stanford University, and Co-founder of numerous companies, Jeff Bezos, Founder and CEO of Amazon, Michael Murphy, Co-Founder and CEO of MASS Design Group, Jack Dangermond, Founder of the Environmental Systems Research Institute, and Alex Karp, Co-Founder and CEO of Palantir Technologies.

 

All have been nominated by leading peers.

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Good Science, Good Communication: Talking to the Media and the Public | COMPASS Online

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President Obama's new $100 million brain research initiative taps several Stanford scientists

President Obama's new $100 million brain research initiative taps several Stanford scientists | Science and Technology Communication | Scoop.it
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A small pressure sensor can make the difference between life and death

A small pressure sensor can make the difference between life and death | Science and Technology Communication | Scoop.it

When people have nerve problems such as those caused by spinal injuries, they can lose the ability to feel when their bladder is full. This means that they don't know when it needs to be emptied, resulting in a build-up of pressure that can damage both the bladder and their kidneys. Now, a tiny sensor may offer a better way of assessing their condition, to see if surgery is required or if medication will suffice.

 

Presently, in order to observe how well the bladder is functioning, a catheter is inserted into the patient's urethra and used to fill their bladder with saline solution. This is understandably uncomfortable for the patient, plus it's claimed to provide an inaccurate picture of what's going on, as the bladder fills up much more quickly than would normally be the case.

 

That's why scientists at Norwegian research group SINTEF are proposing replacing the catheters with tiny pressure sensors. The current prototypes can be injected into the bladder directly through the skin, and could conceivably stay in place for months or even years, providing readings without any discomfort, and without requiring the bladder to be filled mechanically.

 

Patients would be able to move around normally, plus the risk of infection would reportedly be reduced. Currently readings are transmitted from the prototypes via a thin wire that extents from the senor out through the skin, although it is hoped that subsequent versions could transmit wirelessly – perhaps even to the patient's smartphone.

 

Next month, a clinical trial involving three spinal injury patients is scheduled to begin at Norway's Sunnaas Hospital. Down the road, plans call for trials involving 20 to 30 test subjects.

 

Although they're currently about to be tested in the bladder, the sensors could conceivably be used to measure pressure almost anywhere in the body.


Via Dr. Stefan Gruenwald
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Metastatic cancer cells implode on protein contact using E-selecting and TRAIL

Metastatic cancer cells implode on protein contact using E-selecting and TRAIL | Science and Technology Communication | Scoop.it

By attaching a cancer-killer protein to white blood cells, Cornell biomedical engineers have demonstrated the annihilation of metastasizing cancer cells traveling throughout the bloodstream.

The study, “TRAIL-Coated Leukocytes that Kill Cancer Cells in the Circulation,” was published online the week of Jan. 6 in the journal Proceedings of the National Academy of Sciences.

 

“These circulating cancer cells are doomed,” said Michael King, Cornell professor of biomedical engineering and the study’s senior author. “About 90 percent of cancer deaths are related to metastases, but now we’ve found a way to dispatch an army of killer white blood cells that cause apoptosis – the cancer cell’s own death – obliterating them from the bloodstream. When surrounded by these guys, it becomes nearly impossible for the cancer cell to escape.”

 

King and his colleagues injected human blood samples, and later mice, with two proteins: E-selectin (an adhesive) and TRAIL (Tumor Necrosis Factor Related Apoptosis-Inducing Ligand). The TRAIL protein joined together with the E-selectin protein stick to leukocytes – white blood cells – ubiquitous in the bloodstream. When a cancer cell comes into contact with TRAIL, which becomes unavoidable in the chaotic blood flow, the cancer cell essentially kills itself.

 

“The mechanism is surprising and unexpected in that this repurposing of white blood cells in flowing blood is more effective than directly targeting the cancer cells with liposomes or soluble protein,” say the authors.

In the laboratory, King and his colleagues tested this concept’s efficacy. When treating cancer cells with the proteins in saline, they found a 60 percent success rate in killing the cancer cells. In normal laboratory conditions, the saline lacks white blood cells to serve as a carrier for the adhesive and killer proteins. Once the proteins were added to flowing blood, which models forces, mixing and other human-body conditions, however, the success rate in killing the cancer cells jumped to nearly 100 percent.

 

In addition to King, the paper’s researchers include first author Michael Mitchell, a Cornell doctoral candidate in the field of biomedical engineering; Elizabeth C. Wayne, a Cornell doctoral student in the field of biomedical engineering; Kuldeepsinh Rana, a Cornell Ph.D. ’11; and Chris Schaffer, associate professor in biomedical engineering. The National Cancer Institute (Physical Sciences-Oncology program) of the National Institutes of Health, Bethesda, Md. funded the research through Cornell’s Center for the Microenvironment and Metastasis.

 

 

 

Metastasis is the spread of a cancer cells to other parts of the body. Surgery and radiation are effective at treating primary tumors, but difficulty in detecting metastatic cancer cells has made treatment of the spreading cancer problematic, say the scientists.

 
Via Dr. Stefan Gruenwald
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my Open Source Cure

my Open Source Cure | Science and Technology Communication | Scoop.it
I have a brain cancer. I converted my digital medical records into open, accessible formats, turning them into a very personal form of Open Data. Artists, scientists, doctors, designers, hackers are all invited to send me their cure.
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When Salvatore Iaconesi, a software engineer at La Sapienza University of Rome, was diagnosed with brain cancer, he decided to put his medical records online and ask the public to help him find a cure.


Watch his talk at TEDx Transmedia: http://www.youtube.com/watch?v=86ICcxy-6f0

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NIH Details Impact of 2013 Sequester Cuts - ScienceInsider

NIH Details Impact of 2013 Sequester Cuts - ScienceInsider | Science and Technology Communication | Scoop.it
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National Health Director Francis Collins takes to the Twitterverse to encourage researchers to tweet him how the sequester is impacting their labs.

Using the hashtag #NIHSequesterImpact, researchers can tell their story.  "I'll be sharing some of your stories to try to turn this mess around," he wrote in a follow-up tweet.


https://mobile.twitter.com/search/?q=%23NIHSequesterImpact&s=hash

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