Mining for meaning

July 5, 2009 in autism, genetics, health, new research | Leave a comment

With each new genetic study of autism, scientists are flooded with raw data — but seem to be gaining little insight into how to interpret the ever-growing numbers.

Two months ago, the autism world was taken by storm with the announcement that some common genetic variants — carried by at least five percent of the general population — up the risk of developing the disorder. The pegged variants are found in about 60 percent of healthy people and 65 percent of people with autism.

The team behind the findings, led by Hakon Hakonarson at the Children’s Hospital of Philadelphia, also identified nine previously unknown copy number variations (CNVs) — large missing or duplicated regions of DNA — that are more likely to crop up in people with autism.

Now Hakonarson’s team has mined from the same large data set, looking specifically for variants in exons, stretches of the genome that go on to make proteins.

Read the rest of this entry »

Happy 4th!

July 4, 2009 in art, government, history, pretty stuff, videos, weird | Leave a comment

This ‘America the Beautiful’ animation is ridiculously cheesy, but I suppose cheesiness is OK for a holiday. Happy Independence Day! (Hat tip: Dad!)

eagle

Moon garden

July 3, 2009 in astrobiology, chemistry, history, pretty stuff, space | Leave a comment

I gave a delightful little giggle after reading this tidbit from Starts with a Bang:

One of the coolest biological things (to an astrophysicist) that was done recently was the crushing of moonrocks into a sandy dust, followed by planting seeds in them and watering them. The result?

Firefly nuptials

July 2, 2009 in animal behavior, love, media, pretty stuff | Leave a comment

This spiral 'nuptial gift', usually stored in the belly of a male firefly, contains protein and sperm. He passes it to his lady, and the extra nourishment helps her produce viable eggs.

I know, I’m probably the 1,000th blogger to give props to Carl Zimmer’s new piece about firefly courtship, cleverly titled ‘Blink Twice if You Like Me‘. But I don’t care. It’s an amazing read, and a perfect send-off to this weekend of fireworks. Here’s a taste:

For Dr. Lewis, this meadow is the stage for an invertebrate melodrama, full of passion and yearning, of courtship duets and competitions for affection, of cruel deception and gruesome death. For the past 16 years, Dr. Lewis has been coming to this field to decipher the evolutionary forces at play in this production, as fireflies have struggled to survive and spread their genes to the next generation.

“Smoked salmon, and Bach”

July 1, 2009 in brains, celebrity, music, neuroscience, videos | Leave a comment

A must-see clip of Oliver Sacks on the Daily Show (Hat tip: Neuron Culture)

sacks

Why hello there, sunshine

June 25, 2009 in autobiographical, pretty stuff | 1 comment

Sorry, blogloves, posting will be scant for awhile. I have Aruban (Arubian?) things to worry about!

Bird boogie

June 23, 2009 in animal behavior, autobiographical, celebrity, conferences, dance, funnies, intelligence, videos, zoology | Leave a comment

I had a fantastic time at the World Science Festival last weekend. I assessed clues from a murder scene, heard a lecture by the maker of the Inner Life of a Cell animation series, watched a dog-training demonstration for kids (”Who’s heard of Pavlov?”), and learned about ‘Generation IV’ nuclear reactors from a dude who designs them.

One thing I didn’t see was a session about Snowball, the famous dancing Cockatoo. After watching this video clip, I really, really wish I had:

Intelligently tested

June 19, 2009 in autism, brains, education, health, intelligence, neuroscience, new research, psychology | 2 comments

People with autism tend to score lower than average on intelligence tests. That includes the famous Wechsler intelligence scales, which assess verbal comprehension, working memory, and the manipulation of visual patterns to calculate a test taker’s intelligence quotient (IQ).

But on a less well-known test of general intelligence, people with autism perform surprisingly well — with accuracy equal to and speeds up to 40 percent faster than those of healthy controls, says a study published this week.

Read the rest of this entry »

NYT’s most commonly looked-up words

June 17, 2009 in books, education, funnies, linguistics, media, new york, news, web 2.0 | Leave a comment

Fascinating and somewhat hilarious post from Nieman Journalism Lab showing the top 50 words that Nytimes.com readers clicked on for a definition. Yes, swine really did make the list, as did other scientific/medical words, including pandemic, bonobo, adenoidal, phlogiston, and paroxysm):

If The New York Times ever strikes you as an abstruse glut of antediluvian perorations, if the newspaper’s profligacy of neologisms and shibboleths ever set off apoplectic paroxysms in you, if it all seems a bit recondite, here’s a reason to be sanguine: The Times has great data on the words that send readers in search of a dictionary.

As you may know, highlighting a word or passage on the Times website calls up a question mark that users can click for a definition and other reference material. (Though the feature was recently improved, it remains a mild annoyance for myself and many others who nervously click and highlight text on webpages.) Anyway, it turns out the Times tracks usage of that feature, and yesterday, deputy news editor Philip Corbett, who oversees the Times style manual, offered reporters a fascinating glimpse into the 50 most frequently looked-up words on nytimes.com in 2009. We obtained the memo and accompanying chart, which offer a nice lesson in how news sites can improve their journalism by studying user behavior.

(Hat tip: Dale)

EARLI signs

June 12, 2009 in autism, brains, genetics, health, medicine, neuroscience, new research, news, scientists | Tags: , , , , | 2 comments

Some of the most fascinating theories of what causes autism focus on the womb. There’s the idea that the disorder stems from maternal flu exposure during pregnancy, for example, or from too much prenatal testosterone, or from not enough prenatal folate.

The trouble is, for now these hypotheses leave us with more questions than answers. At what stage of pregnancy does a flu infection confer the most risk? Do these prenatal conditions lead to a range of developmental disorders, or specifically autism? How much does genetic predisposition come into play?

On Tuesday, researchers from four U.S. institutions launched a huge study that sets out to unpack some of this complexity. The Early Autism Risk Longitudinal Investigation (EARLI) will follow 1,200 pregnant women who already have a child with autism.

The researchers are collecting enormous amounts of data. They will gather blood and urine samples during pregnancy, and once the baby’s born, they’ll get tissue from the umbilical cord, placenta, and baby stool. They’ll collect more biological samples from the child, and test for language and developmental abilities, every few months until age 3.

A few other longitudinal studies are also studying infant siblings of children with autism, to discover early behaviors that might be used to diagnose the disorder. But these data won’t reveal much about prenatal risk factors.

Scandinavian medical registries hold loads of information about pregnancy complications and psychiatric diagnoses, and even samples of amniotic fluid. But the data are spotty and old, and weren’t necessarily collected to study autism.

EARLI is measuring changes starting from the first days of pregnancy and looking specifically for measures that may be relevant to understanding autism. I’m eager to see what new associations the data pinpoint, and of course whether they back those previously proposed hypotheses. Preliminary analyses are slated for 2012.