By Helen Briggs BBC News Keeping mentally active by reading books or writing letters helps protect the brain in old age, a study suggests. A lifetime of mental challenges leads to slower cognitive decline after factoring out dementia's impact on the brain, US researchers say. The study, published in Neurology, adds weight to the idea that dementia onset can be delayed by lifestyle factors. An Alzheimer's charity said the best way to lower dementia risk was to eat a balanced diet, exercise and stay slim. In a US study, 294 people over the age of 55 were given tests that measured memory and thinking, every year for about six years until their deaths. They also answered a questionnaire about whether they read books, wrote letters and took part in other activities linked to mental stimulation during childhood, adolescence, middle age, and in later life. After death, their brains were examined for evidence of the physical signs of dementia, such as brain lesions and plaques. The study found that after factoring out the impact of those signs, those who had a record of keeping the brain busy had a rate of cognitive decline estimated at 15% slower than those who did not. Dr Robert Wilson, of Rush University Medical Center in Chicago, who led the study, said the research suggested exercising the brain across a lifetime was important for brain health in old age. BBC © 2013

Keyword: Alzheimers; Learning & Memory
Link ID: 18347 - Posted: 07.04.2013

It only takes one bad apple to spoil the bunch, and the same may be true of certain proteins in the brain. Studies have suggested that just one rogue protein (in this case, a protein that is misfolded or shaped the wrong way) can act as a seed, leading to the misfolding of nearby proteins. According to an NIH-funded study, various forms of these seeds — originating from the same protein — may lead to different patterns of misfolding that result in neurological disorders with unique sets of symptoms. “This study has important implications for Parkinson’s disease and other neurodegenerative disorders,” said National Institute of Neurological Disorders and Stroke (NINDS) Director Story Landis, Ph.D. “We know that among patients with Parkinson’s disease, there are variations in the way that the disorder affects the brains. This exciting new research provides a potential explanation for why those differences occur.” An example of such a protein is alpha-synuclein, which can accumulate in brain cells, causing synucleinopathies, multiple system atrophy, Parkinson’s disease, Parkinson’s disease with dementia (PDD), and dementia with Lewy bodies (DLB). In addition, misfolded proteins other than alpha-synuclein sometimes aggregate, or accumulate, in the same brains. For example, tau protein collects into aggregates called tangles, which are the hallmark of Alzheimer’s disease and are often found in PDD and DLB brains. Findings from this study raise the possibility that different structural shapes, or strains, of alpha-synuclein may contribute to the co-occurrence of synuclein and tau accumulations in PDD or DLB.

Keyword: Parkinsons; Alzheimers
Link ID: 18346 - Posted: 07.04.2013

A UC Berkeley study suggests that sleep deprivation triggers anxiety by inducing hyperactivity in brain regions that control emotions. The study, published in the Journal of Neuroscience, suggests that sleep therapy can help patients with anxiety disorders. Stress and anticipation bring anxiety that can sometimes be good; if under control, anxiety might help a person focus and be more efficient. But a patient with anxiety disorders, such as post-traumatic stress disorder (PTSD), generalized anxiety disorder (GAD), obsessive-compulsive disorder (OCD) or other disorders and phobias, cannot control it. The feeling of anxiety and nervousness is constant and has major negative impact on their everyday life. The socioeconomic impact is huge as about one in five adults in the U.S. are affected by such mental illnesses. What are the drivers of anxiety disorders? Why can some people control anxiety while others cannot? Research studies have shown over the years that causes can be genetics, personality, social environment and brain chemistry. Scientists have found a network of neurons in the brain that supports affective anticipation and anxiety. More precisely, those with anxiety disorders have hyperactivity in certain regions of the brain that process emotions, including the amygdala and anterior insula cortex. On top of that, sleep deprivation amplifies the symptoms, a setback for patients because it is very common for them to suffer from sleep abnormalities. Looking for more clues about the connection between sleep and anxiety management, Matthew P. Walker, professor of psychology and neuroscience at UC Berkeley, led a study that looked for differences in the activity of the amygdala and anterior insula cortex in the brains of healthy adults after sleep deprivation and after a good night’s sleep.

Keyword: Sleep; Emotions
Link ID: 18345 - Posted: 07.04.2013

By GRETCHEN REYNOLDS In an eye-opening demonstration of nature’s ingenuity, researchers at Princeton University recently discovered that exercise creates vibrant new brain cells — and then shuts them down when they shouldn’t be in action. For some time, scientists studying exercise have been puzzled by physical activity’s two seemingly incompatible effects on the brain. On the one hand, exercise is known to prompt the creation of new and very excitable brain cells. At the same time, exercise can induce an overall pattern of calm in certain parts of the brain. Most of us probably don’t realize that neurons are born with certain predispositions. Some, often the younger ones, are by nature easily excited. They fire with almost any provocation, which is laudable if you wish to speed thinking and memory formation. But that feature is less desirable during times of everyday stress. If a stressor does not involve a life-or-death decision and require immediate physical action, then having lots of excitable neurons firing all at once can be counterproductive, inducing anxiety. Studies in animals have shown that physical exercise creates excitable neurons in abundance, especially in the hippocampus, a portion of the brain known to be involved in thinking and emotional responses. But exercise also has been found to reduce anxiety in both people and animals. How can an activity simultaneously create ideal neurological conditions for anxiety and leave practitioners with a deep-rooted calm, the Princeton researchers wondered? So they gathered adult mice, injected them with a substance that marks newborn cells in the brain, and for six weeks, allowed half of them to run at will on little wheels, while the others sat quietly in their cages. Copyright 2013 The New York Times Company

Keyword: Neurogenesis; Emotions
Link ID: 18344 - Posted: 07.03.2013

by Helen Fields When a bat moves in for the kill, some moths jiggle their genitals. Researchers made the observation by studying three species of hawk moths—big moths that can hover—in Malaysia. They snared the insects with bright lights, tied tiny leashes around their waists, and let them fly while bat attack sounds played. All three species responded to the noises with ultrasound—which they made by shaking their private parts, the team reports online today in Biology Letters. Males have a structure they use for hanging onto females when they mate; to make the sound, they scrape a patch of large scales on the structure against the very end of their abdomen , letting out two bursts of rapid clicks. Females also make a sound, but the researchers aren't sure how. The scientists don't know exactly what the sounds are for, either. The noise may warn the bats that they're trying to mess with a fast-moving, hard-to-catch piece of prey, or it might jam the bat's ultrasound signals. Either way, the racy display may save their lives. © 2010 American Association for the Advancement of Science

Keyword: Hearing; Sexual Behavior
Link ID: 18343 - Posted: 07.03.2013

By SABRINA TAVERNISE PORTSMOUTH, Ohio — Prescription pain pill addiction was originally seen as a man’s problem, a national epidemic that began among workers doing backbreaking labor in the coal mines and factories of Appalachia. But a new analysis of federal data has found that deaths in recent years have been rising far faster among women, quintupling since 1999. More women now die of overdoses from pain pills like OxyContin than from cervical cancer or homicide. And though more men are dying, women are catching up, according to the analysis by the Centers for Disease Control and Prevention. And the problem is hitting white women harder than black women, and older women harder than younger ones. In this Ohio River town on the edge of Appalachia, women blamed the changing nature of American society. The rise of the single-parent household has thrust immense responsibility on women, who are not only mothers, but also, in many cases, primary breadwinners. Some who described feeling overwhelmed by their responsibilities said they craved the numbness that drugs bring. Others said highs made them feel pretty, strong and productive, a welcome respite from the chaos of their lives. “I thought I was supermom,” said Crystal D. Steele, 42, a recovering addict who said she began to take medicine for back pain she developed working at Kentucky Fried Chicken. “I took one kid to football, the other to baseball. I went to work. I washed the car. I cleaned the house. I didn’t even know I had a problem.” © 2013 The New York Times Company

Keyword: Drug Abuse; Pain & Touch
Link ID: 18342 - Posted: 07.03.2013

Should I stay or should I go? Well, how much food do you have? In some organisms, sexual desire is expressed by leaving, that is, by bidding adieu to a delicious pile of food and wandering off in search of a mate. But not just any mate, a mate with food! Lipton et al., at Albert Einstein College of Medicine, use the “leaving assay” to measure male sexual desire. Their subject is the elegant, rod-like worm, Caenorhabditis elegans.* They start by placing males on their preferred food source; then they measure how often males exit in search of mating partners. You can see the trails they leave in the substrate in this video of C. elegans appropriating Harlem art and culture. How do the researchers know “leaving” is a sex behavior? Context. Leaving a food source occurs only in a sexual context, and the leaving assay is being used to tease apart the threads that control the appetites for food and sex. First, a quick lesson in the fascinating sexuality of C. elegans. Males are not interested in other males, but they search intensely for a mating partner of the other sex. Note that I said “other sex” not “opposite sex.” There are no female C. elegans. Males of this species mate enthusiastically with hermaphrodites. Hermaphrodites can, of course, self-fertilize, but sexual unions between males and hermaphrodites are far more fruitful than selfing. For hermaphrodites, mating with a male will produce more offspring, and for males, hermaphrodites are the only crying game in town.

Keyword: Sexual Behavior
Link ID: 18341 - Posted: 07.03.2013

by Mark Viney The largest and most comprehensive study yet into the long-term health of children born as a result of IVF confirms that they are no more likely to develop autism than children conceived naturally. Some IVF procedures can, however, lead to a small but significant increased risk of intellectual disability. Making babies isn't what it once was. Around 1 in 50 children are now conceived through IVF, and 5 million "test tube babies" have been born worldwide since 1978. The growing numbers of IVF births has prompted some to question whether the procedure leads to any health problems. For example, the IVF embryo transfer procedure is more likely to lead to twin births, which can lead to health problems in babies. Others wonder whether children born through IVF procedures are at a greater risk of developing autism. The evidence to date has been ambiguous. In an effort to resolve the question, a research team including Karl-Gösta Nygren at the Karolinska Institute in Stockholm, Sweden, looked at the health of 2.5 million children born in Sweden between 1982 and 2007, following them for an average of 10 years. Of these children, about 31,000 were born following an IVF procedure. Some 19,500 of these IVF births followed simple mixing of sperm and egg in a dish, but in 10,500 cases, the sperm were unable to penetrate and fertilise the egg under their own steam, and were instead artificially injected into the egg. For the remaining cases – fewer than 1000 in total – there were no sperm in the prospective fathers' ejaculate, so the sperm were extracted from their testicles through a surgical procedure before being injected into the egg. © Copyright Reed Business Information Ltd.

Keyword: Autism
Link ID: 18340 - Posted: 07.03.2013

by Emily Underwood Pay attention! Whether it's listening to a teacher giving instructions or completing a word problem, the ability to tune out distractions and focus on a task is key to academic success. Now, a new study suggests that a brief training program in attention for 3- to 5-year-olds and their families could help boost brain activity and narrow the academic achievement gap between low- and high-income students. Children from families of low socioeconomic status generally score lower than more affluent kids on standardized tests of intelligence, language, spatial reasoning, and math, says Priti Shah, a cognitive neuroscientist at the University of Wisconsin who was not involved in the study. "That's just a plain fact." A more controversial question that scientists and politicians have batted around for decades, says Shah, is "What is the source of that difference?" Part of it may be genetic, but environmental factors, ranging from prenatal nutrition to exposure to toxic substances like lead, may also account for the early childhood differences in cognitive ability that appear by age 3 or 4. So far, however, "there aren't that many randomized, controlled trials that show that the environment has an impact on a child's abilities," Shah says. The new study does just that. It focuses on the ability to hone in on a task and ignore distractions, which "leverages every single thing we do," says cognitive neuroscientist Helen Neville at the University of Oregon, Eugene. For more than 30 years, Neville and her colleagues have been studying the neural bases of this ability, called selective attention. © 2010 American Association for the Advancement of Science

Keyword: Attention; Development of the Brain
Link ID: 18339 - Posted: 07.03.2013

By Christie Aschwanden, It’s a thought that crosses many middle-aged minds when a word is forgotten or a set of keys misplaced: Is this a fluke, or the first sign of dementia? “Most of us will experience some cognitive changes with age,” says Molly Wagster, chief of the behavioral and systems neuroscience branch of the National Institute on Aging, who likens the mental change to the slowing of a marathon runner’s times with advancing years. The ability to call up words is one of the first things to slip. “You might find it more difficult to recall someone’s name or the name of a book you read or favorite movie. Eventually, you’ll remember it, but it takes a little longer,” Wagster says. Such problems are irritating and frustrating, but they’re usually not a sign that your mind is going, Wagster says. “There are a lot of things that have some evidence behind them, but it’s hard to find interventions that have convincing evidence behind them,” says Victor Henderson, a neurologist who studies cognitive aging at Stanford University Medical School. Physical activity seems like the most promising thing you can do to keep your brain at its best, Henderson says. The evidence comes mostly from observational studies rather than the randomized, controlled trials that are considered the gold standard, but it’s consistent: People who engage in aerobic activity — for instance, walking several times per week — show improvements in their cognitive function, particularly in their ability to switch quickly from task to task, Wagster says. © 1996-2013 The Washington Post

Keyword: Learning & Memory; Alzheimers
Link ID: 18338 - Posted: 07.03.2013

By RONI CARYN RABIN Martha Rhodes experienced her first bout of depression at 13. By her late 50s, she had taken just about every antidepressant there is, including Zoloft, Lexapro and Paxil — which did the trick for many years, but had side effects — then Effexor, Lamictal, Seroquel and Abilify. After a suicide attempt in 2009, she tried something radically different: transcranial magnetic stimulation, or TMS, a treatment in which magnetic pulses are used to stimulate parts of the brain believed to be involved in mood regulation. Unlike electroconvulsive or shock therapy, which is also used to treat stubborn depression, TMS does not generally produce seizures. Every day, she spent just over half an hour in a chair with a powerful magnet affixed to the front left side of her head. After four weeks, “I woke up and something was different,” said Mrs. Rhodes, who wrote a book, “3,000 Pulses Later” describing the treatment. “I felt lighter. I didn’t wake up in the morning and wish I were dead.” For Mrs. Rhodes, 63, a former advertising executive in Danbury, Conn., TMS treatment was transformative, and she no longer needs antidepressants. But there are still many questions about just how many severely depressed patients respond to TMS, which requires daily office visits for several weeks, costs thousands of dollars and is often not covered by insurance. For the therapy, patients sit in a doctor’s office with a large magnet pressed to the left side of their heads. The idea is that a pulsed magnetic field, similar to that used in M.R.I.’s, creates an electrical current in the surface of the brain that “resets” the patient’s mood regulatory system. Copyright 2013 The New York Times Company

Keyword: Depression
Link ID: 18337 - Posted: 07.02.2013

By Scicurious Sometimes, funny stories really bring out the wonder of the human body. You can get orgasms triggered in your feet, because of overlap in the sensory cortex. Receptors that are involved in narcolepsy are also involved in how much you eat. And knocking out receptors that regulate taste…can make you sterile? Who knew? Let’s start with taste. We taste because the chemicals in foods hit receptors on our tongues. Receptors for sweet, salt, bitter, sour, and umami (which can commonly be thought of as “savory”). Now, a receptor isn’t just a single protein, it’s actually several protein subunits working together to function. So, for example, the receptor subunit TAS1R3 is a subunit that can play two different tasting roles. When combined with one other subunit, it helps to sense sweet (like saccharin), and when combined with another, if helps you taste umami (like MSG, which is definitely umami flavored). If you get rid of the gene for TAS1R3, you end up with an animal that can’t detect either sweet or umami very well. There’s another subunit that is covered in this paper as well, GNAT3. GNAT3, instead of being specific for something like sweet or bitter, instead plays a role in “basic taste“. But these two protein subunits are not JUST expressed on the tongue and in the gastrointestinal tract. They are expressed elsewhere in the body…and especially in the testicles. © 2013 Scientific American

Keyword: Chemical Senses (Smell & Taste); Sexual Behavior
Link ID: 18336 - Posted: 07.02.2013

By C. CLAIBORNE RAY Q. What effect does the barometric pressure have on humans? Can it cause headaches and other discomforts? A. Differences in air pressure because of the weather or changes in altitude can have noticeable effects on the human body, though some people are more sensitive than others. Low barometric pressure can cause headaches by creating a pressure difference between the surrounding atmosphere and the sinuses, which are filled with air, said Dr. Matthew Fink, neurologist in chief at NewYork-Presbyterian Hospital/Weill Cornell Medical Center. That leads to distended sinuses, especially if there is any congestion or blockage. “The same thing can happen with joints in people who have arthritis,” Dr. Fink said, with the low pressure associated with a coming storm aggravating joint pains in some. “High barometric pressure does not usually cause a problem, unless it is extreme,” he said. For example, water pressure can cause serious problems for a scuba diver because nitrogen dissolves in the blood when it is under pressure for some time. When the pressure is released as a diver ascends too quickly, the gas expands into bubbles; the resulting organic distress, often called the bends, can be fatal. One of the most noticeable effects of shifting air pressure occurs when a plane changes altitude rapidly. As expanding or contracting air in the inner ear equalizes its pressure with the surrounding atmosphere, ear popping and pain are common. © 2013 The New York Times Company

Keyword: Pain & Touch
Link ID: 18335 - Posted: 07.02.2013

by Elizabeth Norton Transforming fat cells into calorie-burning machines may sound like the ultimate form of weight control, but the idea is not as far-fetched as it sounds. Unexpectedly, some fat cells directly sense dropping temperatures and release their energy as heat, according to a new study; that ability might be harnessed to treat obesity and diabetes, researchers suggest. Fat is known to help protect animals from the cold—and not only by acting as insulation. In the early 1990s, scientists studying mice discovered that cold temperatures trigger certain fat cells, called brown adipose tissue, to release stored energy in the form of heat—to burn calories, in other words. Researchers have always assumed this mechanism was an indirect response to the physiological stress of cold temperatures, explains cell biologist Bruce Spiegelman of Harvard Medical School, Boston. The activation of brown fat seems to start with sensory neurons throughout the body informing the brain of a drop in temperature. In response the brain sends out norepinephrine, the chief chemical messenger of the sympathetic nervous system, which mobilizes the body to cope with many situations. In experimental animals, stimulating norepinephrine receptors triggered brown adipose tissue to release its energy and generate heat, while animals bred to be missing these receptors were unable to mount the same fat cell response. People also have brown adipose tissue that generates heat when the body is cold. And unlike white fat, which builds up around the abdomen and contributes to many disorders including heart disease and diabetes, this brown fat is found in higher proportions in leaner people and seems to actively protect against diabetes. © 2010 American Association for the Advancement of Science

Keyword: Obesity
Link ID: 18334 - Posted: 07.02.2013

By DOUGLAS QUENQUA For recovering alcoholics, memories associated with drinking — the smell of a bar, ice clinking in a glass — are among the greatest threats to sobriety. But what if retrieval of those memories could be blocked? Using a drug typically given to organ-transplant patients, researchers at the University of California, San Francisco, reduced the incidence of relapse in rats by disrupting memories linked to past drinking. For several weeks the researchers allowed rats to binge on alcohol. Then, after 10 days of abstinence, the rats were exposed to just a drop of alcohol — enough to awaken their memories of drinking. The researchers then used brain scans to identify the neural mechanism responsible for triggering the reactivation of those memories, known as the mTORC1 signaling pathway. Rapamycin, a drug known to disrupt the pathway, was then given to some of the rats. Those that received it were significantly less likely to consume alcohol. “A single administration of this drug prevented relapse for a period of two weeks,” said Dorit Ron, a neuroscientist at the university and an author of the study, which was published in the journal Nature Neuroscience. Just how long the rats might have stayed dry is hard to say, she added, because “two weeks is when we ended the study.” Rapamycin, which is normally used to suppress transplant patients’ immune systems, is already approved by the Food and Drug Administration. But more study is required to determine whether it could help people abstain from alcohol, Dr. Ron said, adding that the drug also has significant side effects, including increased susceptibility to infection. © 2013 The New York Times Company

Keyword: Drug Abuse; Learning & Memory
Link ID: 18333 - Posted: 07.02.2013

By TIM REQUARTH and MEEHAN CRIST Babies learn to speak months after they begin to understand language. As they are learning to talk, they babble, repeating the same syllable (“da-da-da”) or combining syllables into a string (“da-do-da-do”). But when babies babble, what are they actually doing? And why does it take them so long to begin speaking? Insights into these mysteries of human language acquisition are now coming from a surprising source: songbirds. Researchers who focus on infant language and those who specialize in birdsong have teamed up in a new study suggesting that learning the transitions between syllables — from “da” to “do” and “do” to “da” — is the crucial bottleneck between babbling and speaking. “We’ve discovered a previously unidentified component of vocal development,” said the lead author, Dina Lipkind, a psychology researcher at Hunter College in Manhattan. “What we’re showing is that babbling is not only to learn sounds, but also to learn transitions between sounds.” The results provide insight into language acquisition and may eventually help shed light on human speech disorders. “Every time you find out something fundamental about the way development works, you gain purchase on what happens when children are at risk for disorder,” said D. Kimbrough Oller, a language researcher at the University of Memphis, who was not involved in the study. At first, however, the scientists behind these findings weren’t studying human infants at all. They were studying birds. “When I got into this, I never believed we were going to learn about human speech,” said Ofer Tchernichovski, a birdsong researcher at Hunter and the senior author of the study, published online on May 29 in the journal Nature. © 2013 The New York Times Company

Keyword: Language; Evolution
Link ID: 18332 - Posted: 07.01.2013

Posted by Alison Abbott Two months after animal-rights activists broke into an animal facility at the University of Milan and removed hundreds of animals, photographs of many of the mice have appeared on the Facebook page of one of the protestors’ supporters who uses the pen name Jooleea Carleenee. The raid took place on 20 April. Researchers at the university said that they lost years of their work along with the animals, most of which were genetically modified mice serving as models for disease. They said that they did not expect mutants that were particularly delicate, or immunosuppressed ‘nude’ mice, to survive outside controlled laboratory conditions. Carleenee says that she posted the pictures to show that the animals were still alive. But the images of the overcrowded and uncontrolled conditions in which the mice appear to have been kept in her home have fuelled a new row, with scientists posting angry comments, complaining of cruelty. Daria Giovannoni, president of the pro-science lobby group Pro-Test Italia, says: “If these photos show the actual conditions of the stolen mice, we’re seriously concerned about their well-being and health: we don’t think that these animals are faring better now than when they were in the laboratory.” The raid on 20 April spurred the nascent Pro-Test Italia — modelled on UK and US Pro-Test organizations — to action. It arranged a series of demonstrations by scientists in defence of their work on animals. © 2013 Nature Publishing Group

Keyword: Animal Rights
Link ID: 18331 - Posted: 07.01.2013

By JANE E. BRODY Most people know that obesity can result in serious health problems, yet many of us continue to focus on its cosmetic consequences rather than its risks to health. This distorted view may change now that the American Medical Association has finally labeled obesity a disease, not just a risk factor for other disorders. Last month, the organization recognized that obesity is a verifiable illness that warrants far more attention than physicians, patients and insurers currently give it. The designation may change how aggressively doctors treat obesity, foster the development of new therapies, and lead to better coverage byinsurers. After all, the price of not treating obesity is now in the stratosphere. Obesity-related health conditions cost the nation more than $150 billion and result in an estimated 300,000 premature deaths each year. If the population’s weight gain is not soon capped (or better yet, reversed), experts predict that half of adults in America will be obese by 2040. The A.M.A. has said in effect that it is medicine’s responsibility to provide the knowledge and tools needed to curb this runaway epidemic. On June 19, James Gandolfini, the hefty award-winning actor who portrayed Tony Soprano in “The Sopranos,” died at 51, apparently of a heart attack, while on vacation in Italy. Even if genetics played a role, Mr. Gandolfini’s weight contributed significantly to his risk of sudden cardiac death. Not a week earlier, a 46-year-old member of my family who weighed over 300 pounds died suddenly of what might have been a heart attack while dozing in front of the television. He had long suffered from sleep apnea (a risk factor for sudden death), high blood pressure and severe gout, all results of his extreme weight. Copyright 2013 The New York Times Company

Keyword: Obesity
Link ID: 18330 - Posted: 07.01.2013

Brendan Maher Hugh Rienhoff says that his nine-year-old daughter, Bea, is “a fire cracker”, “a tomboy” and “a very sassy, impudent girl”. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Bea’s birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughter’s condition might come with serious heart problems. Rienhoff, a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis. He bought lab equipment so that he could study his daughter’s DNA himself — and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease (see Nature 449, 773–776; 2007). “Talk about personal genomics,” says Gary Schroth, a research and development director at the genome-sequencing company Illumina in San Diego, California, who has helped Rienhoff in his search for clues. “It doesn’t get any more personal than trying to figure out what’s wrong with your own kid.” Now nearly a decade into his quest, Rienhoff has arrived at an answer. Through the partial-genome sequencing of his entire family, he and a group of collaborators have found a mutation in the gene that encodes transforming growth factor-β3 (TGF-β3). Genes in the TGF-β pathway control embryogenesis, cell differentiation and cell death, and mutations in several related genes have been associated with Marfan syndrome and Loeys–Dietz syndrome, both of which have symptomatic overlap with Bea’s condition. The mutation, which has not been connected to any disease before, seems to be responsible for Bea’s clinical features, according to a paper to be published in the American Journal of Medical Genetics. © 2013 Nature Publishing Group,

Keyword: Movement Disorders; Genes & Behavior
Link ID: 18329 - Posted: 07.01.2013

Niko J. Kallianiotis for The New York Times Autism, or the fear of it, chased one Korean mother from her Queens church. “I very carefully told the mom: ‘I think your child is a little different. Why don’t you take the test for autism?’ ” said the Rev. Joy Lee of the Korean Presbyterian Church in Flushing. “She told me, ‘Oh no, my child will be O.K.’ So then she quit. After that, she did not pick up the phone.” Ms. Ko said her own mother refused to discuss Jaewoo with relatives and friends after he was given his diagnosis. It crushed another Korean mother — twice. First, she said, when her son received the diagnosis, and again when friends saw it as a sign that she herself was sick. To cure him, they said, she needed psychotherapy. Sun Young Ko, of Forest Hills, whose 8-year-old son, Jaewoo Kwak, was given a diagnosis of autism 18 months ago, said her own mother refused to discuss her grandson with relatives or friends. “She’s kind of hiding,” Ms. Ko said. Raising an autistic child is hard enough, let alone raising one in a culture in which the stigma surrounding autism still runs high. Now, inspired by a 2011 study of a South Korean city that found relatively high rates of autism, a leading advocacy group is teaming with churches, doctors, schools and news organizations in Flushing, trying gingerly to bring Korean parents around to the idea that if there is something unusual about their child, concealing it and avoiding help are absolutely the wrong things to do. “More so than other populations, Korean-Americans really measure their own self-worth, and the worth of the family, in terms of what the child is able to achieve and what the child means to the family,” said Roy Richard Grinker, a professor of anthropology at George Washington University and the senior author of the South Korea study. © 2013 The New York Times Company

Keyword: Autism
Link ID: 18328 - Posted: 07.01.2013