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Over the past few years, Pawan Sinha has worked out a provocative theory that might help explain these anecdotes: people with autism have trouble with ‘temporal integration’, or drawing upon information learned in the past to anticipate the future.
The basic idea is that meaningful social interactions — which are difficult for people with autism — hinge on precisely synchronized events. For example, to understand spoken language, you must quickly and seamlessly integrate sounds to form meaningful words: myoo plus zik becomes music, not muse, use or sick. Similarly, imagine how difficult it would be to have a party conversation if you couldn’t monitor, in real time, your companion’s facial expressions or gestures in response to your words.
In between setting world records, carrying out vision experiments on his infant son, and launching a campaign to build a large eye hospital in New Delhi, Sinha has led an effort to test about 40 children with autism on a variety of visual and auditory experiments. Preliminary data from his team at the Massachusetts Institute of Technology (MIT) show that these children do have deficits in temporal integration.
Anyone who reads my blog knows how I feel about this “debate”. In fact, the answer to whether genetics is helping us understand disease, and health, is so ridiculously, obviously YES that the question seems not worth asking. But BMJ asked it, and managed to find two experts with opposing answers.
David Weatherall, a professor at the, ahem, Weatherall Institute of Molecular Medicine at the University of Oxford, agrees with me. He points out that genetic science has (among other things): found the cause of many single-gene disorders, such as cystic fibrosis and Huntington’s; uncovered how cholesterol metabolism works, leading to new drug treatments; and has shown us how acquired mutations (from, say, cigarette smoke) can cause cancer.
On the other side is James Le Fanu, a general practitioner and book author from London. He agrees that now, 10 years since figuring out the sequence of the human genome, geneticists generate “billions of bytes of biological data each week” and have published “fascinating insights”. He just doesn’t think they matter much in the clinic: “And yet for all this cornucopia of new facts and knowledge, its influence on everyday medical practice remains scarcely detectable.”
He gives two possible explanations for this slow start: A) genetics may not be all that important to disease; and B) we don’t understand even the basic function of a gene, let alone how they work together to create disease.
I have two objections to Le Fanu’s argument. The first is that 10 years is not a long time! Yes, this is extremely complicated science, which is why I often marvel at just how much has been learned about our genome in only 10 years.
The second problem is that Le Fanu made a negative argument, rather than a positive one. He says we shouldn’t bother spending money on genetics to understand medicine. OK, so what should we study, then? He ends his commentary with this doozy: “The current dominance of medical genetics threatens to bury the true spirit of intellectual inquiry under an avalanche of undigested (and indigestible) facts.” On the contrary, I think what he’s advocating — giving up on a young and extremely productive field — is a much better example of “burying intellectual inquiry.” Well, since we don’t understand a lot of this stuff, let’s not even bother trying to.
Of course genetics is not everything, and of course, the more we find out, the more that remains a mystery. But isn’t that what science is all about?
I can’t even put to words how much I adore these cookies. Just imagine me eek-ing. HUGE props to the creator of these beauties, the biological anthropologist/baker at notsohumblepie.blogspot.com!
This morning at SfN, I had a short chat with Francis Collins, the new head of the National Institutes of Health. I asked him about the agency’s plans for autism research. Go check out the video! I didn’t ask him about his faith, but I did ask him about autism and genetic research.
Collins was head of the National Human Genome Research Institute for 15 years, and led the high-profile Human Genome Project, so he is no stranger to the limelight. But as head of the NIH, in charge of a $31 billion annual budget, he is a powerful man with big ambitions.
Collins told a packed hall this afternoon that one of his major goals will be “to tackle questions that have the word ‘all’ in them”: for example, what are all of the protein interactions in a cell, and what are all the ion channels in a given neuron?
In particular, Collins spent a large part of his talk highlighting recent research on autism, “a disease of great public concern and great scientific puzzlement,” and the related fragile X syndrome. He said that high-throughput technology has already identified more than 50 variations, both rare and common, linked to autism spectrum disorders. He added that $30 million dollars of funds from the American Recovery and Reinvestment Act will be used for full sequencing of target genes and, for a few individuals with the disorder, whole-genome sequencing.
That’s what I asked Tracy Bale, neuroscientist at the University of Pennsylvania, yesterday at a morning session at SfN. Bale studies how maternal stress during pregnancy might lead to neuropsychiatric diseases, such as schizophrenia or autism. Check out a video of her answer, or the other SfN conference reports on SFARI.org.
Science news editors are usually leery of papers published in the Proceedings of the National Academy of Sciences (PNAS). Although the journal seems to carry weight among the scientific community — and is frequently cited by other journals — it’s known for having a fairly lax peer-review process.
A potential PNAS paper must first be sponsored by one of the 2,000-odd elite members of the Academy, who is then responsible for sending it out to anonymous reviewers and collecting their responses. Apparently, some of the members have their own ways of doing this.
Academy member Lynn Margulis, a biologist from the University of Massachusetts, Amherst, reportedly disregarded a bunch of negative reviews for a paper she sponsored, which proposed a theory that she agrees with: that caterpillars become butterflies because, many eons ago, butterflies accidentally mated with velvet worms. The paper was published online in PNAS after Margulis finally gathered some positive reviews of it. Now (after she spoke about her selection bias with a Scientific American reporter) the journal’s editor-in-chief is saying the paper will never make it into print, and moreover, that two new papers sponsored by Margulis will also be held up.
Dr. Margulis defended herself in an email to Nature News:
“We will win one way or another because this is science,” Margulis wrote in an e-mail. “I followed all the rules and submitted more reviews than I needed, and if they definitively reject these papers I will make it very clear to the reading public (because they make it clear in their anonymous letters) that, as usual, they don’t like my ideas.”
It’s not clear to me if ethics were breached in this particular case. But it’s safe to say that I’ll continue to take claims made in PNAS papers with a healthy dose of skepticism.
Very early this morning, molecular biologist Carol Greider was involved in the mundane task of washing clothes. Then she got a phone call. From the Nobel Prize committee. Telling her that she won a Nobel Prize.
A couple of years ago, back when she was only a Lasker Award winner, I had the pleasure of chatting with Greider about her research on the basic workings of chromosomes. In 1984, looking in pond scum, she and her colleagues discovered telomerase, an enzyme that extends the end of a chromosome and is critical to cell aging and cancer.
Over at Nobelprize.org, you can listen to a 9-minute phone interview with Greider talking about this morning’s phone call. The site also features great background on the science of telomeres and the other two scientists, Elizabeth Blackburn and Jack Szostak, with whom Greider shares the prize. Congratulations to all!
But medicine, too, was giving him little satisfaction.
Wigler lives by a handful of axioms: an apple falls when you drop it; every human is equally “weird;” and nearly every human opinion is flat-out wrong.
But doctors make life-or-death decisions based on other people’s research, which is often ambivalent or inconclusive.
“There’s a small set of things that I have good evidence to believe are true, and I base everything on them. You can’t do that and be a doctor,” he says. “I just couldn’t live like that.”
After Austin (above) and his brother were diagnosed with autism, their mother Beth Malow, an expert in sleep disorders, began studying the link between autism and sleep.
When they were young, Matthew Belmonte and his older brother, John, were fascinated by the same obscure sights: the rise and fall of shadows under streetlights when walking down the street, or individual specks of dust revealed in a beam of sunlight. They both enjoyed rocking back and forth to the high-pitched hum emanating from an old television. But in at least one respect, the boys were markedly different: Matthew had a huge vocabulary, and John didn’t speak.
“Even though he wasn’t speaking, I had the sense that I saw what he saw, and he saw what I saw,” Belmonte recalls. “I always knew that he and I thought in the same way.”
John had been diagnosed with autism in 1964, a few years before Matthew was born. In 1998, their sister’s daughter was also diagnosed with autism.
Inspired partly by his family’s struggles, Matthew, an assistant professor at Cornell University, studies perceptual experiences and cognition in people with autism.
Among autism researchers, he is one of many with close family ties to the disorder.
In her NYT column yesterday, evolutionary biologist Olivia Judson asked readers: If you had to choose one organism’s genome to fully sequence, which would it be?
She chose Latimeria chalumnae, an African coelacanth, for two reasons:
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