The drug, dubbed STX209, is further along than any other treatment for an autism-related disorder. If it passes the next, more rigorous testing phase, it could be in clinics within a few years.

At a meeting on Saturday of the National Fragile X Foundation, Seaside Therapeutics, a small biotech in Cambridge, Massachusetts, announced that in 15 children who had both fragile X syndrome and severe social impairments, STX209 significantly improved scores on several tests of social behaviors.

The drug didn’t work on everyone in the trial, but for some, it was remarkable. According to the lead investigators, some participants improved so much that they stopped taking other medications, such as antidepressants and antipsychotics, which can have nasty side effects. The researchers are indefinitely continuing an ‘open-label’ extension study, in which the participants knowingly take the drug while the company collects data on safety and long-term effects.

In 2002, Mark Bear, one of Seaside’s founders, famously showed that mouse models of fragile X syndrome have excessive activity of the chemical messenger glutamate. Accordingly, STX209 stimulates gamma-amino butyric acid type B receptors, which effectively dampen glutamate signaling. Most of the other drugs in development for fragile X either also stimulate pathways that inhibit glutamate, or directly block glutamate receptors.

Although STX209 showed a trend of improving irritability and social problems in the wider group of 54 children and adults with the syndrome, the results were not statistically significant.

Seaside is also running a preliminary open-label study to test whether STX209 improves irritability in 30 children with autism. About one in three of individuals with fragile X syndrome also have autism.

It’s unlikely that drugs developed for fragile X will improve the full range of symptoms on the autism spectrum, but given the current dearth of treatments, even small gains are reason enough for good cheer.

"Solid Liquid Gas"

“Its like 5th grade science mixed with sculpture. Its about being curious and playful. There is still a lot to wonder about.”
–Caleb Charland, photographer, physics enthusiast

From My Modern Metropolis:

Caleb Charland demonstrates lessons in physics and mathematics with his mind-blowing photography. Inspired by children’s books of science experiments, he photographs everyday objects (like matches, pens and mirrors) in ways we’ve never imagined, often using multiple exposures to tell the story.

…The beauty of it all is that there’s an honesty to Charland’s work. By transforming everyday household objects into unexpected experiences, he makes us appreciate multiple disciplines; art, science and photography. In addition, his work evokes that sense of curiosity that often lays dormant in us as adults. While looking at his photos, you can’t help but marvel at the scientific laws that govern us and, at the same time, feel as though Charland’s somehow cheated them.

(Hat tip: Ed)

No one has pinpointed genes or pathways that cause the condition and, partly because it can be triggered by ordinary stressors, it’s difficult to diagnose. Its biology now becomes even more baffling with the release of two new mouse models of compulsive behaviors, each implicating a different type of brain cell.

Three years ago, Guoping Feng‘s team created mice that compulsively groom themselves by deleting the SAPAP3 gene. SAPAP3 makes a protein expressed exclusively at neuron connections in the striatum, a deep region that’s important for planning movements.

Circuits in the striatum are also highlighted in one of the new studies, which appeared in May in Nature Medicine. By knocking out part of SLITRK5, which encodes a synaptic protein found in the striatum, researchers created mice whose intense self-grooming leads to severe facial lesions.

The second new report looked at mice carrying mutations in the HOXB8 gene. Scientists first noticed in 2002 that these animals feverishly groom themselves and their littermates, but didn’t know why. In the 28 May issue of Cell, they reported that HOXB8 is expressed only in microglia, immune cells that originate in the bone marrow and then migrate to many regions across the brain.

Although the two studies finger very different systems, they might begin to explain how and why OCD overlaps with other psychiatric illnesses, such as autism. For instance, some people with autism have movement problems, or abnormally big striata.

There are also many genetic and neurobiological links between the immune system and autism. Most relevant, a study presented at a meeting last year found that postmortem brain samples from individuals with autism have large numbers of microglia.

HIV has a remarkable ability to resist antiviral drugs and hide in the body, so the idea of eradicating the virus seemed impossible. Suggesting otherwise, researchers feared, could create false hope and complacency.

In the past few years, however, there are increasingly loud whispers about a cure for HIV. The year 2007 saw the clinical debut of integrase inhibitors, which prevent HIV from inserting into the host genome. The following year, a bone-marrow transplant eliminated the virus from the body of an infected German man. Last year, breakthroughs in cell-culture techniques allowed researchers to screen for drugs that can lure HIV from its hiding places.

“I was very pessimistic five years ago, but we had to try,” says Warner Greene, director of the Gladstone Institute of Virology and Immunology in San Francisco. “And as we’ve tried, I’ve become much more optimistic that we might be able to achieve a drug-free remission.”

His optimism is understandably tinged with caution, however, as scientists promising eradication were proven wrong once before.

In the summer of 1996, researchers attending the eleventh international AIDS meeting in Vancouver trumpeted data showing that certain combinations of antiretroviral drugs can suppress HIV to undetectable levels in the blood.

The buzz grew over the course of the following year. In May 1997, David Ho’s group at the Aaron Diamond AIDS Research Institute in New York reported in Nature that HIV levels in eight people dropped by two orders of magnitude within ten days of receiving a particular three-drug combination and were undetectable within eight weeks.

Using a mathematical model, the researchers estimated that, barring any complications, the drugs could eradicate the virus from an infected person in less than three years.

If that sounded too good to be true, it was. In the same issue of the journal, Bob Siliciano’s group from Johns Hopkins University inspected the small number of dormant immune cells that harbour HIV. Because these cells do not replicate, they are impervious to treatment. Once activated, however, his team found that these cells can start pumping out the virus into the blood and lymph nodes.

Two other groups described these so-called latent reservoirs in 1997, and two years later Siliciano’s team estimated that it would take about 60 years for drugs to flush out HIV from these stores. “It was a real blow, I think, to people who were interested in eradication,” Siliciano says.

The field instead shifted focus to preventing resistance by using combinations of three or more drugs — dubbed highly active antiretroviral therapy (HAART) — and to decreasing the side effects of treatment.

These efforts were hugely successful: there are 32 approved HIV drugs, and at least a dozen more in the pipeline, which, together, can suppress the virus for decades.

“Now that HAART works so well,” Siliciano says, “we’re turning to the next step: can we actually cure anybody?”

…read the rest of my latest at Nature

There’s an informational video that the Inborn Talent website urges you to watch “if you end up doing nothing else today,” because the information is “critical” and “will affect and impact both the childhood and the adulthood of your child.” It warns that, without the info the test can provide, “you may be unconsciously forcing your child to do something that he or she really dislikes doing.”

And there is a long, long funny page filled with DNA images and references to the “Drawing Gene” or “Intelligence Gene” or “Self Detoxifying Gene” as well as lots of Visa/MasterCard logos and test-ordering hyperlinks that say things like “Wow, This will be the best christmas gift for my child! I want my child’s report now.”

As genetic testing gets more popular, we’re undoubtedly going to see more and more companies springing up with these sorts of ridiculous claims. (In case anyone didn’t know, researchers have not found any genes for drawing, intelligence, detox, etc…go read Elaine’s great post with more crazy examples.) But these smart, critical responses are exactly why I’m not worried about it.

In fact, when I Google “Inborn Talent” or “Inborn Talent genetic test”, the first articles that show up are critical, such as this one from Psychology Today. It’s hard enough for companies (ie, 23andMe, DeCode) that are built on some actual science to succeed; when a company is built on bullshit, its reputation will quickly plummet, and ultimately it will fail.

(Hat tip: Diana)

But some insurance companies have resisted paying for the newer tests, called chromosomal microarrays, because they are more expensive than older techniques. This delay in technological uptake could be keeping many children from receiving crucial early treatment for their conditions. Now, an expert group is calling on large medical associations to adopt microarrays as the preferred genetic tests for children with unexplained autism, developmental delays or other birth defects.

Traditional karyotyping techniques are still the best choice for conditions such as Down’s syndrome that are caused by gross chromosomal abnormalities and are easily recognized by clinicians. But most developmental disorders show a range of symptoms and can arise from more subtle genetic glitches, such as microscopic DNA deletions or duplications. That’s where the much more sensitive microarrays come in.

…read the rest of my latest in Nature Medicine

Topol has launched a company, the West Wireless Health Institute, that is working on real stethoscopes and related technologies — using iPhones and other wireless devices. Here’s what he told the San Diego Union Tribune:

This technology is already here, introduced in February 2010, by GE (a device called “Vscan”). I use this for all the patients I see, at no cost except for initially purchasing the pocket echo device, and have been able to markedly reduce the number of full echoes that are needed (which cost more than $1,500, take 40 to 45 minutes, and require another appointment to be set up to get the test). Each year in the United States, over 8 million heart echoes are done at a cost of well over $10 billion. If we can cut that at least 10 (percent) to 20 percent, it has enormous potential.

As far as taking one’s vital signs, this is right around the corner. Sensors on the wrist can be used to get blood pressure, heart rate, oxygen concentration in the blood, breathing rate, temperature, and this will ultimately be displayed on the cell phone. Very exciting for people who need this, and potentially worrisome for inducing “e-hypochondriacs” for those who don’t.

The sensors will undoubtedly play an enormous role in the years ahead, since they can measure virtually anything that makes us tick, anytime, anywhere, continuously — it is just a matter of using these appropriately, validating the improvements, and making sure they can reduce the costs of health care.

Crop circles have been seen for centuries.  How they got there is a little mysterious and has been the subject of a great number of theories:  scientific ones include hill-induced vortices, and less-scientific ones include aliens.  The majority of the circles are not mysterious at all:  they’ve been done by hoaxer/artists and the most recent ones are increasingly mathematical, fractal, and gorgeous.  The artists work in teams and use some of the same math that nature uses — like the golden ratio — to create the same designs nature does.