SEATTLE – it was a clue – the kind of clue medical researchers notice.

Intent on finding answers about autism, now estimated to affect 1 of every 88 children, they followed it, poking and prodding and scanning, prying open its secrets.

It was a curious little observation that, for any individual child, didn’t mean much. But over time, measurements from hundreds of children suggested an intriguing trait: as a group, preschoolers diagnosed with autism tended to have larger heads.

That meant something was going on with their brains. But what?

The clue, pursued with the help of MRI scans that peered into sleeping babies’ brains, led researchers to a stunning discovery: Long before symptoms appeared, 6-month-old babies – who were much later diagnosed with autism – already had marked differences in their brains’ “wiring,” the white matter that connects different regions.

To Dr. Stephen Dager, a principal investigator for the University of Washington arm of the multisite Infant Brain Imaging Study, the finding was a shock. Researchers began the scans at 6 months only because they wanted a baseline.

What they found, almost by accident, appears to be the earliest biomarker for autism.

“Who knew you could see a difference at 6 months of age?” said Dr. Evan Eichler, a UW professor of genome sciences and autism researcher not involved in the brain study. “That tells us something really important.”

Like other scientists focused on autism, the UW researchers are eager to find ways to diagnose the disorder earlier so children can get help earlier.

“If these subtle early brain-wiring findings hold up, then it may help us understand the mechanism and the parts of the brain that are implicated, and areas of potential weakness to target with intervention,” said Dager, a UW professor of radiology.

At this point, intervention primarily means behavioral therapy. the earlier it begins, the more likely it is to alter autism’s grip on a child, said Annette Estes, a clinical psychologist and co-principal investigator for the UW site of the study, published recently in the American Journal of Psychiatry.

Ultimately, though, what everyone wants – particularly now that “personalized medicine” has begun to create gene-specific drugs – is to put an end to autism. the disorder can rob children of social and communication skills, leaving them to shun contact and lock themselves into rigid, repetitive behaviors.

There’s no blood, genetics or physical test – including measuring an individual child’s head – that can predict or diagnose autism. instead, diagnosis depends on a set of behavioral differences, in the early years often so subtle that they’re missed.

“All we know about autism diagnosis, right now, are the symptoms that are expressed,” Dager said.

Like polio in the early stages, he said, the only help currently available to children with autism is the equivalent of the iron lung – treating symptoms, but not the underlying disorder.

Now, as scientists did with polio, “we’re trying to go back, to understand the why.”

That quest has gained greater traction in the past few years, thanks to technological advances in imaging and genetics, an influx of funding from private foundations and the willingness of thousands of families to participate.

From genetics to a mother’s metabolism during pregnancy, findings are pouring in from far-flung corners of the research world.

Most scientists believe this neurodevelopmental disorder results from genes, environment and “a kind of luck of the draw,” Dager said.

“It’s a mysterious disorder, so there’s been a lot of effort trying to understand it.”

Higher risk of autism

For their study, Dager, Estes and a host of other researchers zeroed in on the brains of children statistically at higher risk of autism because they have a sibling who already had been diagnosed.

Other studies, said the study’s senior author, Dr. Joseph Piven at the University of North Carolina, Chapel Hill, looked at children only after diagnosis, and never followed children over time, as this one does.

“You can’t just study them at one point in time,” he said. “(Autism) is an unfolding of a condition, both in terms of behavior and of brain.”

To set up the study, the first of its kind, the researchers had to painstakingly calibrate the imaging machines at many different sites, because tiny inconsistencies could obscure or render meaningless the subtle differences they were looking for.

In Seattle, the scans took place at night at Seattle Children’s, where researchers depended on parents, some of whom flew in from distant states, to coax babies to snooze in the giant MRI tube.

What exactly did Dager and his colleagues see when they peered into those baby brains? Immediately, nothing discernible.

But later, after all the scans were sliced and diced and analyzed, researchers looking at results from 6-month scans found differences between babies who demonstrated autism symptoms at 24 months and those who did not.

The differences in those 6-month scans involved the babies’ “white-matter fiber tract development” – the wiring connecting regions of their brains.

“The early nature of these brain changes was really surprising,” Estes said.

So far, the evidence discovered with this type of MRI, called diffusion tensor imaging, or DTI, points not to just one region of the brain, but to a whole-brain problem, Dager said.

The findings, he cautions, are preliminary.

Researchers are careful to note they can’t diagnose an individual 6-month-old from a brain MRI. However, “this suggests that perhaps in the future we will be able to do that,” Estes adds.

“There’s real excitement about this,” she said, in part because it helps reassure distraught parents that their parenting didn’t cause autism. “This is already present at 6 months of age.”

looking through them

Amy Schley was pregnant with Alexis when she saw a flier for Dager’s study at a doctor’s office.

She and her husband, Brian, were concerned because their older daughter had been diagnosed with autism about two years earlier.

When Alexis was 1 month old, the couple signed up for the study.

“I ended up doing it because it would help them figure out what causes autism,” Amy Schley said.

Knowing Alexis would be evaluated by Estes and other behavioral experts as part of the study, she said, was reassuring. “We would catch the problem early if there was one.”

That didn’t happen with Alexis’ older sister.

“I think back; she had signs at 6 months old, but I didn’t know,” Schley said.

The doctor asked if their baby looked at them. Schley said she did. But now, with Alexis as a comparison, she realizes it wasn’t really at them. “It was more like she was looking through us.”

She babbled, as babies are supposed to do. But not at her parents.

When she played with a toy, she didn’t turn to check in with her parents.

Balance and motor skills lagged. if she climbed a few stairs, she’d panic, unable to get down.

She didn’t process stimulation well and would often scream in public.

Schley and her husband, first-time parents, didn’t add up the clues.

“The first kid, you don’t know. It’s such a subtle difference,” she said. “I didn’t really know until I had a normal kid to compare it to.”

Mutations in genes

many parents were hoping genetics researchers would find a single “autism gene.”

So it was with mixed emotions they greeted a trio of studies published in the journal Nature this month, one authored by the UW’s Eichler, reporting that researchers studying more than 600 families with one child with autism had found mutations in hundreds of different genes – possibly in as many as a thousand.

Most weren’t “random genes,” Eichler said, but were associated with early brain development. and while autism can run in families, in some cases these were new mutations, unique to the child.

The researchers also found that fathers were more likely than mothers to transmit tiny genetic glitches to offspring, and that risk increased with the father’s age.

Other researchers are targeting metabolism as a possible factor. A study recently published in Pediatrics reported that mothers who are obese or who have diabetes are more likely to have a child with developmental delays, including autism.

Vaccines, shunned by some wary parents, have been investigated repeatedly, and researchers have found no link with autism.

Controversy also has dogged a statistic regarding the prevalence of autism, recently released by the Centers for Disease Control and Prevention – up an astounding 78 percent over the past decade. the jury’s still out on the central question: is autism occurring more frequently, or simply being diagnosed more often?

Such questions may help explain why, after decades of work and at least $1 billion spent in the past 10 years alone, science has no neat answer about autism’s cause, much less a cure.

6th Sep 2011, 1:15 pm by Brad Lemaire

Vertex Pharmaceuticals (NASDAQ:VRTX) reported Tuesday its experimental drug VX-509 for the treatment of rheumatoid arthritis met its two primary endpoints during a late-stage, 12-week trial.

According to results, VX-509 resulted in “substantial and statistically significant” improvements in rheumatoid arthritis activity, compared to a placebo during the phase 2a trial.

Rheumatoid arthritis is a chronic inflammatory disease that affects about 1.5 million adults in the U.S. the disease causes destruction of joint cartilage and erosion of adjacent bone resulting in deformity, loss of function, disability and the need for joint replacement.

About 80% of people with the disease become disabled within 20 years of diagnosis.

The two main goals of the study were a statistically significant improvement in the proportion of people who achieved at least a 20% improvement in the signs and symptoms of the disease, as well a similar improvement from baseline in a certain score measuring disease activity.

The company said it plans to execute a six month phase 2b study based on the results.

“These early results are encouraging and provide strong support that the selective targeting of JAK3 by VX-509 may represent a new approach to the treatment of rheumatoid arthritis and other autoimmune and inflammatory diseases,” Vertex’s chief scientific officer, Peter Mueller, said in a press release.

The VX-509 drug is taken orally, and is specifically designed to work by blocking a family of enzymes known as Janus Kinases, or JAK, known to cause chronic inflammation, and in the case of rheumatoid arthritis, irreversible damage to cartilage and bones.

The  204 person, placebo-controlled study evaluated four dose levels of VX-509, which were given twice daily for 12 weeks to RA patients, with about 40 clinical trial sites taking part in the trial in the US and Europe.

Data from the 150-milligram dose showed 66% of patients achieved a 20% improvement, while the placebo showed a response of 29%. the company also tested doses of 25-mg, 50-mg and 100-milligrams.

The study also evaluated patients who experienced clinical remission, defined as a patient with a Disease Activity Score (DAS28) of less than 2.6, at week 12. about 35% and 37% of people achieved DAS28 remission in the 100 mg and 150 mg treatment groups, respectively, compared to 7% of people in the placebo arm, the company said.

The next phase 2b trial for the drug is expected to test once-daily and twice-daily doses of VX-509 in combination with methotrexate, a commonly prescribed anti-rheumatic drug for rheumatoid arthritis.

Vertex develops and commercializes small molecule drugs for the treatment of diseases. It is engaged in phase-one clinical trials for a host of drug candidates, which include drugs for the treatment of cystic fibrosis and influenza, epilepsy and other life-threatening diseases.

The Cambridge, Massachusetts-based pharmaceutical company’s shares rose 16 cents, or 0.36%, to trade at $44.75 Tuesday afternoon on the Nasdaq.

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KNOXVILLE, Tenn. (WVLT) – Annual prostate cancer testing may not be necessary for some men. That’s according to a study released this week.

But one man we talked with says he was able to beat the disease because of early detection.

Bill Kincaid credits his annual screening for saving his life.at 53, he was diagnosed with prostate cancer.

“My doctor said I shouldn’t have cancer like that until I was in my 60′s.”

With a PSA level at 6.5, treatment began right away. Kincaid had radiation seeds planted in his prostate.

“I know I’m in my 50′s, but I still feel like I have a lot of life to live. And I don’t have to worry about having prostate cancer.”

Dr. Wesley White says even though Prostate Cancer is not aggressive, he recommends annual screenings to his patients.

“The whole point is detecting it before they develop symptoms to begin with before there is potential spread.”

The American Cancer Society recommends all men at age 40 have a baseline PSA screening as well as a digital rectal exam and then starting at the age of 50, annual screenings and exams.

But a new study says it may not be necessary for some men to be screened.

It says men whose first PSA test came back under 3.0 may not need annual testing and those with levels under 2.0 can most likely go eight years before getting retested.

“Every man should talk to their doctor regarding whether it’s in their best interest to have it done,” says Dr. White who adds there has always been controversy surrounding PSA screenings.

“You have to balance the side effects from treatment with the potential risk of prostate cancer.”

Now, two years later, and with a PSA level of .25, Kincaid is glad he was screened.

“It saved my life, just by my doctor saying Bill, you need to get checked.”

The study also says men with PSA levels of three or higher should have prostate biopsies. The current recommendation suggest a biopsy in men with a PSA level of four.

Dr. White says you should always consult with your doctor if you have questions.