Archives for category: Business and Technology

In the spring of the year 73, thousands of Roman soldiers raided Masada, a fortress on top of a cliff in the Judean Desert. For seven years, the Jews had tried, unsuccessfully, to split from the Roman empire, and Masada was the last holdout. According to the ancient historian Josephus, when the Romans breached Masada’s walls, they found 960 dead bodies of Jewish extremists, called Sicarii, who had killed themselves to avoid the inevitable enslavement. Because of Masada’s remote location and harsh, dry climate, nothing much happened to the site for the next 2,000 years, until archaeologists started digging it up in 1963. They found attack ramps and siege towers (some of the best examples we have, apparently, of Roman war technologies), palaces, cisterns, swimming pools, 27 human skeletons and, deep under the rubble, a handful of seeds.

The seeds were stored at room temperature until 2005, when scientists performed radiocarbon dating and identified them as the famed date palm of Judea. (Psalm 92: “The righteous will flourish like a palm tree…They will still bear fruit in old age, they will stay fresh and green.”) The researchers planted the remaining three seeds. One of them grew. When the results were published, in 2008, the plant, nicknamed Methuselah, was more than three feet tall. By this past November, it was more than six feet tall, and healthy enough to be moved out of quarantine and into a park.

No one knows exactly how the seeds managed to survive so long, but it almost certainly had to do with the extremely high temperatures and low humidity of the desert. Methuselah is just one of many examples of organisms that can preserve themselves by shutting down for awhile. In the winter, the wood frog’s heart stops beating and up to 45 percent of its body turns to ice. The tardigrade, a microscopic eight-legged ‘waterbear’, can survive at least 10 years in a cold environment by expelling nearly all of the water from its body.

“Nature is very wise at solving these problems,” says cryobiologist Amir Arav, whose company, Core Dynamics, is based about 85 miles from Masada. For nearly 30 years, Arav has been trying to mimic nature’s preservation feats in the lab. He has frozen rat livers and hearts, and sheep ovaries, and has freeze-dried human sperm, knee cartilage, stem cells and blood.

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The Last Word on Nothing, January 2012.

Head movements taint the results of many brain imaging studies, particularly those analyzing children or individuals with autism. That’s the sobering message from two independent studies published over the past few months in NeuroImage.

Both reports analyze so-called ‘resting-state functional connectivity’ studies: the increasingly popular five-minute brain scans that measure synchrony between different regions when the brain is at rest.

Together, they call into question high-profile findings published in the past couple of years showing that short-range connections in the brain start off strong in children and weaken over the course of typical development, while long-range connections begin weak in children and strengthen over time.

In a study published 14 October, researchers reanalyzed data from several of their own functional connectivity studies after correcting for head motion and found that this maturation pattern usually disappears once head motion is taken into account.

“It really, really, really sucks. My favorite result of the last five years is an artifact,” says lead investigator Steve Petersen, professor of cognitive neuroscience at Washington University in St. Louis.

It’s unclear how many published results head motion has skewed, and whether this changes the bottom-line conclusions. But many researchers are concerned.

“It’s going to impact some findings with regard to the robustness, but whether it completely wipes out the findings that are out there is another question,” says Damien Fair, assistant professor of behavioral neuroscience and psychiatry at Oregon Health and Science University. “It is going to require folks to reanalyze their data, controlling for these new ways of examining motion.”

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SFARI, January 2012.

Larry Reiter studies the chromosomal region 15q11-13, one of the genomic hotspots most firmly linked to autism. At his small lab at the University of Tennessee Health Science Center in Memphis, Reiter has sometimes relied on mutant mice — such as animals missing UBE3A, a key gene in the region — engineered by other groups for his experiments1.

But in the past couple of years, as competition has intensified in autism research, Reiter has had trouble gaining access to new mouse models. Frustrated, he has decided to focus instead on fruit flies.

Reiter says he worries that others might be similarly discouraged. “People will shy away from working in this area, because they can’t get the mouse to work on,” he says.

On paper, most funding organizations, such as the National Institutes of Health (NIH) and SFARI — this website’s parent organization — as well as most scientific journals stipulate that once researchers publish details of a model animal, they must make the animals available to other labs (see list).

“Failure to comply with the sharing plan may be carefully considered in future funding decisions for the investigator and their institution,” says J.P. Kim, director of the Division of Extramural Inventions and Technology Resources within the NIH Office of Extramural Research.

In practice, however, many researchers intentionally delay sharing or don’t share at all.

“It’s sort of the ugly secret,” Reiter says. “There is a long and proud tradition in the mouse field of holding on to your mouse, sometimes for 20 years.”

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SFARI, January 2012.

On June 26, 2000, three famous men — one president, two scientists — made a big announcement at the White House. Two independent teams — one public, one private — had published a first draft of the human genome, or as one of the scientists called it, the “book of life.” It was a feat. It would change the world. It would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases,” the president said. Everybody was proud.

Ten years later, a journalist at a big newspaper pointed out that, well, no, the $3 billion we spent on the human genome — a dollar for each pair of DNA letters — had not bought us the ability to diagnose, prevent or treat common diseases. The genome had revolutionized basic biology, sure, but done little for human health.

The newspaper article made a lot of scientists angry. (Some of them are still sputtering about it at conferences.) It also launched a broader discussion about science communication and hype. A month ago, I went to a public event at the American Museum of Natural History, in Manhattan, called “The Human Genome and Human Health: Will the Promise Be Fulfilled?” Four experts on genetics, medicine, ethics and law discussed whether the promises of that 2000 announcement would ever come true. The general consensus was that the White House hoopla had raised expectations much too high, inevitably leading to disappointment. Pride goeth before the fall.

As a journalist, I hate hype, and I will never argue that journalists should be anything but skeptical of scientific advancements. But I recently learned that, like all of the Seven Deadly Sins, pride is necessary for survival. So I wonder, does science need hubris?

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The Last Word on Nothing, December 2011.

I always thought of Harry Houdini as a master trickster, fooling his audience into believing something had happened when, in fact, it had not happened. That’s not true. Houdini’s tricks — like escaping from a locked packing crate after it had been thrown into New York’s East River — were real. His “magic” was that nobody could figure out how he pulled them off.

In the November 1925 issue of Popular Science, Houdini wrote an essay describing his obsession with the other kind of mystifiers: those who claim to have supernatural powers. Every day of his 35-year career, Houdini wrote, he had been thinking about psychics who supposedly communicate with the dead. He visited dozens of them and, as described at length in the essay, uncovered all of their lazy tricks. To give just one fun example, Houdini showed how mediums, during pitch-black seances, used trumpets controlled by their feet and mouths to produce voices that their audience believed to be ghosts.

Houdini did not consider himself a skeptic, but rather a public servant.

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The Last Word on Nothing, December 2011.

A couple of weeks ago, I attended a public discussion about the future of genomics at the American Museum of Natural History in Manhattan. My favorite part of the evening was when Paul Billings, chief medical officer at Life Technologies, pulled out of his pocket his company’s latest genome sequencer: a square chip, about the size of a quarter. Next year, he said, researchers will be decoding whole genomes with this device for about $1,000 each.

For most researchers, the rise of whole-genome sequencing is old news, and so are its potential pitfalls. The sheer volume of data will be difficult to store and, at least for a while, impossible to interpret. Then there are those frightening scenarios of how your genetic information might be used against you that routinely make it into headlines and Hollywood blockbusters.

But one aspect that is rarely discussed is that the rise of whole-genome sequencing may well result in a deluge of lawsuits against doctors. That’s the sobering prediction by two lawyers in an essay published 25 November in the online magazine Slate.

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SFARI, December 2011.

Researchers have uncovered cellular abnormalities in Timothy syndrome by regenerating neurons from individuals with the rare autism-related disorder, according to a study published 27 November in Nature Medicine.

Using a mix of chemicals in a dish, the researchers reprogrammed skin cells from individuals with Timothy syndrome into so-called induced pluripotent stem (iPS) cells and then coaxed these cells to differentiate into neural precursor cells and neurons.

The cells derived from individuals with Timothy syndrome show a host of defects, including abnormal calcium signaling and low numbers of cells that can form long-range connections. Notably, Timothy neurons produce more catecholamines, a class of chemical messengers, compared with neurons reprogrammed from healthy individuals. These chemicals have been linked to autism and, more often, to bipolar disorder and depression.

This chemical excess is largely reversed when researchers expose the cells to a drug called roscovitine, which blocks the flow of calcium across the cell membrane.

The Timothy syndrome gene, CACNA1C, makes a protein needed for a certain type of calcium channel. Mutations in the gene, reported in only a few dozen people, cause heart defects, physical malformations and, usually, autism.

Using the iPS cell approach with rare forms of autism, “you can find things that are interesting potential clinical leads,” says lead investigator Ricardo Dolmetsch, assistant professor of neurobiology at Stanford University in Palo Alto, California. “In a way, it gives you a better preclinical model than we’ve had before.”

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SFARI, December 2011.

A drug that blocks a certain type of receptor at the junctions between neurons reverses repetitive behaviors in a common environmental mouse model of autism, according to a study published 7 October in PLoS ONE.

The drug, called 2-methyl-6-(phenylethyl)-pyrididine, or MPEP, inhibits the mGluR5 receptor, which uses the neurotransmitter glutamate for signaling. In 2007, researchers showed that dialing down mGluR5 activity can reverse the learning problems in a mouse model of fragile X syndrome, the most common inherited cause of autism.

Since then, several groups have begun testing mGluR5 inhibitors as therapies for fragile X or autism.

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SFARI, December 2011.

Since the unveiling of the first draft of the human genome in June 2000, you’ve probably heard a lot about the potential power of genomic data for diagnosing, preventing and even curing disease.

Progress was slow at first, partly because of money: The first sequencing efforts cost hundreds of millions of dollars. But with the price tag now at less than $5,000 per person, researchers can begin building large collections of DNA data.

In October, for example, the autism science and advocacy organization Autism Speaks announced its plans to sequence whole genomes of 10,000 individuals —children with the disorder and their family members — over the next two years.

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SFARI, November 2011.