Archives for category: Health and Medicine

It’s been almost a year since I wrote about my genetic testing results from 23andMe. That’s because, despite paying $5 a month for the site’s mandatory Personal Genome Service®, I rarely look at it.

It’s not that I’m scared of the data (been there), and not because I forgot — every six or eight weeks I get an email from the company saying things like, You have 8 new results from 23andMe! New discoveries have been made about your DNA! I hadn’t visited the site because, frankly, I was bored of it. How many times is one expected to look sort-of-interesting, sort-of-meaningless risk calculations and ponder healthier ways to live?

Then at a conference last week, while trying to make small talk with a scientist, I mentioned my 23andMe subscription. Turns out he has one, too. “Isn’t it funny when you get those messages from your distant relatives?” he said. I told him I didn’t know what he meant. “I get them all the time,” he said, shaking his head.

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The Last Word on Nothing, March 2012.

This worm is born to travel. It begins life in human lymph, only to seep out of the lymphatic vessels into the grimy fluid that bathes our organs. From there, it drifts into the blood stream. During the day, it keeps to deep veins. Once darkness falls, it migrates up to the skinny veins just under the skin.

Then one lucky night, a mosquito will find the sleeping human and feast on its blood. The worm will end up in the insect’s gut and, eventually, in its muscles. It will reach adolescence there, and then travel to the mosquito’s head, stinger and, finally, to the next person the insect bites. From the blood stream, the worm will find its way back to the lymph to mate and, after such a long journey, retire. It will stay there for six to eight years, the rest of its life, and pump out millions of new little worms to embark on the same cross-species adventure.

Unfortunately, the health of these worms, called parasitic filarial nematodes, is in direct conflict with that of their human hosts. The worms slowly accumulate inside of people, eventually clogging lymph nodes and causing the extreme swelling, discoloration and deformity known as elephantiasis. More than 120 million people in 72 countries are infected with the disease, formally called lymphatic filariasis, leaving some 40 million incapacitated.

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The Last Word on Nothing, March 2012.

Children with autism who have different verbal and intellectual abilities seem to glean useful social information from different parts of the face, according to the largest-ever eye-tracking study of the disorder.

These differences suggest that children with autism adapt to their environment based on their specific strengths and weaknesses, the researchers say.

The findings, published in the March issue of the Journal of the American Academy of Child and Adolescent Psychiatry, illustrate both the importance and the challenges of studying differences among people with autism.

“Different people have different compensatory strategies to navigate the demands of social life,” says lead investigator Ami Klin, chief of the division of autism and related disorders at Emory University School of Medicine in Atlanta.

Experts applaud the study for taking an approach that’s only beginning to gain traction in the autism field: parsing the notoriously diverse disorder into smaller groups of children that share a particular trait, such as verbal ability. Doing so could help pinpoint new imaging or genetic biomarkers, and could help clinicians choose effective treatments, researchers say.

“The study highlights that any interventions that are used need to be specific to the child in question,” says Gwyneth Doherty-Sneddon, professor of psychology at Northumbria University in the U.K., who was not involved with the new study. “There are important individual differences, so an intervention that might work well with one group of children is not going to work well with another group.”

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SFARI, March 2012.

We’ve all caught grandma or grandpa catching some z’s after a big meal, or while watching TV, or apropos of nothing at all. Popular wisdom says that older people tend to have restless sleep and more fatigue during the day.

That may be true, but a huge survey published today in the journal Sleep finds that elderly people are more satisfied with their sleep habits than people in any other age group.

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Smithsonian’s Surprising Science, March 2012.

In a mouse model of Alzheimer’s disease, memory problems stem from an overactive enzyme that shuts off genes related to neuron communication, a new study says.

When researchers genetically blocked the enzyme, called HDAC2, they ‘reawakened’ some of the neurons and restored the animals’ cognitive function. The results, published February 29, 2012, in the journal Nature, suggest that drugs that inhibit this particular enzyme would make good treatments for some of the most devastating effects of the incurable neurodegenerative disease.

“It’s going to be very important to develop selective chemical inhibitors against HDAC2,” says Howard Hughes Medical Institute investigator Li-Huei Tsai, whose team at the Massachusetts Institute of Technology performed the experiments. “If we could delay the cognitive decline by a certain period of time, even six months or a year, that would be very significant.”

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HHMI News, February 2012.

We’ve learned a lot in the past few decades about how brain connections in children with autism go awry during early development, and the genetic and environmental factors that contribute to these changes. Veteran autism researchers often quip, “We’ve come a long way from refrigerator mothers,” referring to the notorious theory from the 1950s that cold, unaffectionate mothering causes the disorder.

In France, however, much of the psychiatric establishment has not moved on.

At least, that’s the message of Sophie Robert’s documentary film, Le Mur (The Wall), which purports that four out of every five psychologists in France follow Sigmund Freud’s psychoanalytic method and shun biological explanations for autism. Their ignorance is shocking and almost comical, except that it’s preventing thousands of children with the disorder from accessing behavioral therapies.

Over the course of four years, Robert interviewed 30 psychiatrists and psychoanalysts in France regarding their beliefs about autism, and followed one family that has two boys with the disorder and was searching for help. One of the boys, Guillaume, showed marked improvements in speech after his parents began behavioral intervention — the very approach eschewed by analyst after analyst. Autism, the analysts insist, is the result of ”la folie maternelle,“ or maternal madness, and the best way to treat it is to remove the child from her care.

The film was released online last September, prompting outrage from the psychologists who were featured in the film, as well as their colleagues. Three sued Robert for allegedly misrepresenting their views through editing. Then last month, a court ruled in their favor, censoring the film until Robert removes their interviews and pays more than 30,000 euros in damages and fees. Robert, who denies taking the interviewees’ comments out of context and says they all signed detailed releases, is filing an appeal.

The uncut film is still available online with rough English subtitles. (See this site for a handy transcript.) But even with the poor translation, it’s easy to see why these psychologists — most of whom are in their later years — are embarrassed by the way they’re portrayed.

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SFARI, February 2012.

The new study, certainly not the last word on DNA, was published last week in The EMBO Journal. The music is Chopin’s Minute Waltz, the subject of another post.

First published on…

The Last Word on Nothing, February 2012.

The development of white matter tracts, the nerve bundles that join one brain region to another, is different in babies who go on to develop autism compared with those who do not, according to a new study.

Researchers scanned the brains of infant siblings of children with autism — who have an increased risk of developing the disorder themselves — several times during their first two years of life. The so-called ‘baby sibs’ who go on to receive a diagnosis of autism at 24 months of age have distinct brain patterns at 6 months and abnormal neural development from 6 to 24 months, according to the study. The results were published 17 February in the American Journal of Psychiatry.

“The story is that autism is an unfolding process, not something that happens in the third trimester and then is done,” says lead investigator Joseph Piven, professor of psychiatry at the University of North Carolina-Chapel Hill. “We see the brain changing over time in a dynamic way.”

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SFARI, February 2012.

Just over a year ago, I wrote about a handful of research groups creating robots that can engage children who have autism using speech, facial expressions or body movements. These ‘social’ bots ranged from a miniature dinosaur and a dancing yellow snowman to several sophisticated, full-size humanoids.

The eclectic collection now includes a boy that can sense when it’s touched, a floating female head that expresses a wide range of emotions and a low-cost fuzzy penguin that can track a child’s eye movements. Descriptions of all three appear in the latest conference proceedings of the IEEE Engineering in Medicine and Biology Society.

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SFARI, February 2012.