Chapter 16. None

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By Israel Robledo As has often been said, with great power comes great responsibility. As we saw in the recent election, social media is a great example of a powerful medium that can change minds and change lives but can also give credibility to false or misguiding information. As someone diagnosed with Parkinson’s disease (PD) nine years ago, I’ve thrilled at seeing social media’s growing power as an agent for good. As our advocacy community has grown, social media has allowed for more information to be circulated in the PD community than ever before, and has become a vital link through which we share experiences, raise awareness about quality of life issues, point people to clinical trials, spread knowledge about cutting-edge research—and importantly, raise critical dollars to fund it. Connecting our community more tightly together has underscored the important role each of us can play in finding an eventual cure. A downside to the awesome power of this platform comes from not knowing or perhaps not caring about the source of information shared on social media. Just as “fake news” has flourished in an environment where speed, rather than accuracy, is what counts, patients—who are understandably vulnerable to hopeful reports about their disease—must recognize that not everything they read is equally credible. In my years of advocating for PD-related causes, hundreds of so-called “miracles” have been announced, all of which have proven to have disappointing results. © 2016 Scientific American

Keyword: Parkinsons
Link ID: 22950 - Posted: 12.05.2016

Gabrielle Emanuel Megan Lordos, a middle school teacher, says she was not allowed to use the word "dyslexia." She's not alone. Parents and teachers across the country have raised concerns about some schools hesitating, or completely refusing, to say the word. As the most common learning disability in the U.S., dyslexia affects somewhere between 5 and 17 percent of the population. That means millions of school children around the country struggle with it. Under the Individuals with Disabilities Education Act (IDEA), schools are required to provide special services to help these students — things like reading tutors and books on tape. But those special services can be expensive, and many schools don't have the resources to provide these accommodations. That has led some parents and advocates to worry that some schools are making a careful calculation: If they don't acknowledge the issue — or don't use the word "dyslexia" — then they are not obligated to provide services. Last year, when Lordos was teaching English at a public school in Arlington, Va., she recalls a parent-teacher meeting in the conference room. Things started smoothly. Lordos says two parents had come in to talk with teachers and administrators about their son – Lordos' student, an eighth-grader – who was struggling to read. Partway through the meeting, Lordos says she suggested that the student might have orthographic dyslexia. Two of Lordos' own children have dyslexia and, she says, she noticed her student had similar challenges to the ones she'd seen at home. © 2016 npr

Keyword: Dyslexia
Link ID: 22949 - Posted: 12.05.2016

By Alice Klein It’s something all whale-watchers yearn to see. The sight of whales breaking the surface and slapping their fins on the water is a true spectacle – but the animals don’t do it just for show. Instead, it appears that all that splashing is about messaging other whales, and the big splashes are for long-distance calls. Ailbhe Kavanagh at the University of Queensland in Gatton, Australia, and her colleagues studied 94 different groups of humpback whales migrating south along the Queensland coast in 2010 and 2011. Humpback whales regularly leap out of the water and twist on to their backs – an action known as breaching – and slap their tails and fins in a repetitive fashion. The resulting sounds travel underwater and could possibly communicate messages to other whales. Drowning in sound: The sad case of the baby beluga whales The team found evidence for this idea. The animals were significantly more likely to breach when the nearest other whale group was more than 4 kilometres away, suggesting that the body-slapping sound of breaching was used to signal to distant groups. In contrast, repetitive tail and pectoral-fin slapping appeared to be for close-range communication. There was a sudden increase in this behaviour just before new whales joined or the group split up. © Copyright Reed Business Information Ltd.

Keyword: Animal Communication; Language
Link ID: 22948 - Posted: 12.05.2016

By Jessica Boddy Memory researchers have shone light into a cognitive limbo. A new memory—the name of someone you've just met, for example—is held for seconds in so-called working memory, as your brain's neurons continue to fire. If the person is important to you, the name will over a few days enter your long-term memory, preserved by permanently altered neural connections. But where does it go during the in-between hours, when it has left your standard working memory and is not yet embedded in long-term memory? In Science, a research team shows that memories can be resurrected from this limbo. Their observations point to a new form of working memory, which they dub prioritized long-term memory, that exists without elevated neural activity. Consistent with other recent work, the study suggests that information can somehow be held among the synapses that connect neurons, even after conventional working memory has faded. "This is a really fundamental find—it's like the dark matter of memory," says Geoffrey Woodman, a cognitive neuroscientist at Vanderbilt University in Nashville who was not involved with the work. "It's hard to really see it or measure it in any clear way, but it has to be out there. Otherwise, things would fly apart." Cognitive neuroscientist Nathan Rose and colleagues at the University of Wisconsin (UW) in Madison initially had subjects watch a series of slides showing faces, words, or dots moving in one direction. They tracked the resulting neural activity using functional magnetic resonance imaging (fMRI) and, with the help of a machine learning algorithm, showed they could classify the brain activity associated with each item. Then the subjects viewed the items in combination—a word and face, for example—but were cued to focus on just one item. At first, the brain signatures of both items showed up, as measured in this round with electroencephalography (EEG). But neural activity for the uncued item quickly dropped to baseline, as if it had been forgotten, whereas the EEG signature of the cued item remained, a sign that it was still in working memory. Yet subjects could still quickly recall the uncued item when prompted to remember it a few seconds later. © 2016 American Association for the Advancement of Science.

Keyword: Learning & Memory
Link ID: 22947 - Posted: 12.03.2016

Maanvi Singh "I lost more than 80 percent of my university friends," recalls Jagannath Lamichhane. After silently struggling with depression for two decades, Lamichhane published an essay in Nepal Times about his mental illness. "I could have hid my problem — like millions of people around the world," he says, but "if we hide our mental health, it may remain a problem forever." Many of his friends and family didn't agree with that logic. In Nepal — as in most parts of the world — there's quite a lot of stigma around mental illness. That was eight years ago. Now 35-year-old Lamichhane is a mental health advocate, working to challenge the stigma around depression. "People believe that depression is the result of personal weaknesses and the result of bad karma in a past life," he says. Even worse, they don't believe they can be helped, he says — so they don't seek treatment. The problem isn't unique to Lamichhane's community. An estimated 350 million people are affected by depression, and the vast majority of them don't get treatment for their condition either due to stigma or a lack of knowledge, according to a study of more than 50,000 people in 21 countries. The study was led by Graham Thornicroft, a professor of psychiatry at King's College London. He and his team of researchers from King's College London, Harvard Medical School and the World Health Organization found that in the poorest countries, one in 27 people with depression received minimally adequate care for their condition. Even in the richest countries, only one in five people with depression sought care. The data was published Thursday in The British Journal of Psychiatry. © 2016 npr

Keyword: Depression
Link ID: 22945 - Posted: 12.03.2016

By Torah Kachur, A dog's nose is an incredible scent detector. This ability has been used to train bomb-sniffing dogs, narcotics and contraband sniffers as well as tracking hounds. But even the best electronic scent-detection devices — which use the dog's nose as their gold standard — have never been able to quite live up to their canine competition. But new research — which took a plastic dog nose and strapped it to a bomb sniffing device — might change that. The shape and function of a dog's nose is being used to improve electronic scent detectors. (Flickr / montillon.a) Dogs have almost 300 million smell receptors in their noses, compared to the meagre six million us humans have: their sense of smell is more than 40 times better than ours. But those smell receptors are just part of the puzzle. Matthew Staymates, lead author on a new paper published Thursday, figured that the canine sniffing skill also has something to do with the anatomy of a dog's nose. A former roommate of his had done his PhD in dog nose anatomy and actually had a computer model of a dog's nose and entire head. So Staymates used a 3D printer, printed out a dog's nose, and attached it to an electronic detector. "Sure enough, a week or two later, I had a fully functioning, anatomically correct dog's nose that sniffs like a real dog." From that, he worked with something called a schlieren imager to watch air go in and out of a nose when the dog is snuffling around the ground. ©2016 CBC/Radio-Canada.

Keyword: Chemical Senses (Smell & Taste); Robotics
Link ID: 22941 - Posted: 12.03.2016

By BENEDICT CAREY The same digital screens that have helped nurture a generation of insomniacs can also help restore regular sleep, researchers reported on Wednesday. In a new study, more than half of chronic insomniacs who used an automated online therapy program reported improvement within weeks and were sleeping normally a year later. The new report, published in the journal JAMA Psychiatry, is the most comprehensive to date suggesting that many garden-variety insomniacs could benefit from the gold standard treatment — cognitive behavior therapy — without ever having to talk to a therapist. At least one in 10 adults has diagnosable insomnia, which is defined as broken, irregular, inadequate slumber at least three nights a week for three months running or longer. “I’ve been an insomniac all my life, I’ve tried about everything,” said Dale Love-Callon, 70, a math tutor living in Rancho Palos Verdes, Calif., who recently used the software. “I don’t have it 100 percent conquered, but I’m sleeping much better now.” Previous studies have found that online sleep therapy can be effective, but most have been smaller, or focused on a particular sleep-related problem, like depression. The new trial tested the digital therapy in a broad, diverse group of longtime insomniacs whose main complaint was lack of sleep. Most had used medication or supplements over the years, and some still did. “These results suggest that there are a group of patients who can benefit without the need of a high-intensity intervention,” like face-to-face therapy, said Jack Edinger, a professor in the department of medicine at National Jewish Health in Denver, who was not a part of the study. “We don’t know yet exactly who they are — the people who volunteer for a study like this in first place are self-motivated — but they’re out there.” © 2016 The New York Times Company

Keyword: Sleep
Link ID: 22939 - Posted: 12.01.2016

By Clare Wilson WE HAVE been thinking about Parkinson’s disease all wrong. The condition may arise from damage to the gut, not the brain. If the idea is correct, it opens the door to new ways of treating the disease before symptoms occur. “That would be game-changing,” says David Burn at Newcastle University, UK. “There are lots of different mechanisms that could potentially stop the spread.” Parkinson’s disease involves the death of neurons deep within the brain, causing tremors, stiffness and difficulty moving. While there are drugs that ease these symptoms, they become less effective as the disease progresses. One of the hallmarks of the condition is deposits of insoluble fibres of a substance called synuclein. Normally found as small soluble molecules in healthy nerve cells, in people with Parkinson’s, something causes the synuclein molecules to warp into a different shape, making them clump together as fibres. The first clue that this transition may start outside the brain came about a decade ago, when pathologists reported seeing the distinctive synuclein fibres in nerves of the gut during autopsies – both in people with Parkinson’s and in those without symptoms but who had the fibres in their brain. They suggested the trigger was some unknown microbe or toxin. © Copyright Reed Business Information Ltd.

Keyword: Parkinsons
Link ID: 22938 - Posted: 12.01.2016

Amanda Gefter As we go about our daily lives, we tend to assume that our perceptions—sights, sounds, textures, tastes—are an accurate portrayal of the real world. Sure, when we stop and think about it—or when we find ourselves fooled by a perceptual illusion—we realize with a jolt that what we perceive is never the world directly, but rather our brain’s best guess at what that world is like, a kind of internal simulation of an external reality. Still, we bank on the fact that our simulation is a reasonably decent one. If it wasn’t, wouldn’t evolution have weeded us out by now? The true reality might be forever beyond our reach, but surely our senses give us at least an inkling of what it’s really like. Not so, says Donald D. Hoffman, a professor of cognitive science at the University of California, Irvine. Hoffman has spent the past three decades studying perception, artificial intelligence, evolutionary game theory and the brain, and his conclusion is a dramatic one: The world presented to us by our perceptions is nothing like reality. What’s more, he says, we have evolution itself to thank for this magnificent illusion, as it maximizes evolutionary fitness by driving truth to extinction. Getting at questions about the nature of reality, and disentangling the observer from the observed, is an endeavor that straddles the boundaries of neuroscience and fundamental physics. On one side you’ll find researchers scratching their chins raw trying to understand how a three-pound lump of gray matter obeying nothing more than the ordinary laws of physics can give rise to first-person conscious experience. This is the aptly named “hard problem.”

Keyword: Consciousness
Link ID: 22937 - Posted: 12.01.2016

By Clare Wilson Could a brain stimulation device change our sex drive? The first study of this approach suggests that people’s libido can be turned up or down, depending on the device’s setting. The study didn’t measure how much sex people had in real life, instead it measured participant’s sexual responsiveness. Unusually, this was done by fixing customised vibrators to people’s genitals and gauging how their brainwaves changed when they expected a stimulating buzz. “You want to see if they want what you’re offering,” says Nicole Prause at the University of California, Los Angeles. “This is a good model for sexual desire.” The technique involves transcranial magnetic stimulation (TMS), where a paddle held above the head uses a strong magnetic field to alter brain activity. It can be used to treat depression and migraines, and is being investigated for other uses, including preventing bed-wetting, and helping those with dyslexia. The part of the head targeted in this study – called the left dorsolateral prefrontal cortex, roughly above the left temple – is involved in the brain’s reward circuitry. © Copyright Reed Business Information Ltd.

Keyword: Sexual Behavior
Link ID: 22936 - Posted: 12.01.2016

Erika Check Hayden Physicians may soon have a lot more help in treating newborns. Neuroscientists and physicians have embarked on what they hope will be a revolution in treatments to prevent brain damage in newborn babies. As many as 800,000 babies die each year when blood and oxygen stop flowing to the brain around the time of birth. And thousands develop brain damage that causes long-lasting mental or physical disabilities, such as cerebral palsy. Physicians have few tools to prevent this, but they are optimistic that clinical trials now under way will change things. The trials were sparked by neuroscientists’ realization in the 1990s that some brain injuries can be repaired. That discovery spurred a flurry of basic research that is just now coming to fruition in the clinic. In January, a US study will start to test whether the hormone erythropoietin, or EPO, can prevent brain damage hours after birth when combined with hypothermia, in which babies are cooled to 33.5 °C. A trial in Australia is already testing this treatment. Physicians in countries including the United States, China and Switzerland are testing EPO in premature babies, as well as other treatments, such as melatonin, xenon, argon, magnesium, allopurinol and cord blood in full-term babies. “The world has really changed for us,” says neurologist Janet Soul at Boston Children’s Hospital in Massachusetts. Therapeutic hypothermia was the first success: clinical trials over the past decade have shown that it decreases the risk of death and of major brain-development disorders by as much as 60%. It is now standard treatment for babies in developed countries whose brains are deprived of blood and oxygen during birth. © 2016 Macmillan Publishers Limited,

Keyword: Development of the Brain
Link ID: 22935 - Posted: 11.30.2016

By David Grimm Animal research has a publication problem. About half of all animal experiments in academic labs, including those testing for cancer and heart drugs, are never published in scientific journals, and those that are have been notoriously hard to replicate. That’s part of the reason that most drugs that work in animals don’t work in people—only 11% of oncology compounds that show promise in mice are ever approved for humans—despite billions of dollars spent by pharmaceutical and biotech companies. Meanwhile, academic labs waste money, mice, and other resources on experiments that, unbeknownst to them, have already been done but were never reported. In response to similar concerns about human studies, the U.S Food and Drug Administration (FDA) in 2007 mandated that researchers conducting human clinical trials preregister the details in an online database like ClinicalTrials.gov. Now, some scientists are wondering whether a similar approach makes sense for animal experiments. In a study published this month in PLOS Biology, Daniel Strech, a bioethicist at Hannover Medical School in Germany, and colleagues investigated the idea of so-called animal study registries. They scoured the literature and interviewed nearly two dozen scientists to determine the pros and cons of such registries—and whether they would actually make a difference. Strech chatted with Science to discuss the group’s findings. This interview has been edited for clarity and length. Q: What would these registries look like? © 2016 American Association for the Advancement of Science

Keyword: Animal Rights
Link ID: 22930 - Posted: 11.30.2016

By NICHOLAS BAKALAR Stroke rates have been declining in older people over the past 20 years — but have sharply increased in those under 55. Researchers at Rutgers University used data from the New Jersey Department of Health on more than 227,000 hospitalizations for stroke from 1995 through 2014, calculating incidence by age over five-year periods. The findings appeared in the Journal of the American Heart Association. Compared with the 1995-99 period, the rate of stroke in 2010-14 increased by 147 percent in people 35 to 39, by 101 percent in people 40 to 44, by 68 percent in those 45 to 49, and by 23 percent in the 50 to 54 group. Stroke is still far more common in older people. But the rate decreased by 11 percent in those 55 to 59, by 22 percent in the 60 to 64 group, and by 18 percent in people 65 to 69. The reasons are unclear, but the lead author, Joel N. Swerdel, now an epidemiologist with Janssen Pharmaceuticals, said that increasing obesity and diabetes in younger people are probably involved. “For a person 30 to 50, the good news is you ain’t dead yet,” he said. “With behavioral changes, changing diet, increasing exercise, there’s still hope for you. Behavioral change is hard, but this study is an early warning sign.” © 2016 The New York Times Company

Keyword: Stroke
Link ID: 22929 - Posted: 11.30.2016

By Virginia Morell If you’ve ever watched ants, you’ve probably noticed their tendency to “kiss,” quickly pressing their mouths together in face-to-face encounters. That’s how they feed each other and their larvae. Now, scientists report that the insects are sharing much more than food. They are also communicating—talking via chemical cocktails designed to shape each other and the colonies they live in. The finding suggests that saliva exchange could play yet-undiscovered roles in many other animals, from birds to humans, says Adria LeBoeuf, an evolutionary biologist at the University of Lausanne in Switzerland, and the study’s lead author. “We’ve paid little attention to what besides direct nutrition is being transmitted” in ants or other species, adds Diana Wheeler, an evolutionary biologist at the University of Arizona in Tucson, who was not involved with the work. Social insects—like ants, bees, and wasps—have long been known to pass food to one another through mouth-to-mouth exchange, a behavior known as trophallaxis. They store liquid food in “social stomachs,” or crops, from which they can regurgitate it later. It’s how nutrients are passed from foraging ants to nurse ants, and from nurses to the larvae in a colony. Other research has suggested that ants also use trophallaxis to spread the colony’s odor, helping them identify their own nest mates. © 2016 American Association for the Advancement of Science

Keyword: Chemical Senses (Smell & Taste)
Link ID: 22928 - Posted: 11.29.2016

By John Horgan Asked for a comment on the language-acquisition theory of Noam Chomsky (in photo above), psychologist Steven Pinker says: “Chomsky has been a piñata, where anyone who finds some evidence that some aspect of language is learned (and there are plenty), or some grammatical phenomenon varies from language to language, claims to have slain the king. It has not been a scientifically productive debate, unfortunately.” Credit: Ministerio de Cultura de la Nación Argentina Flickr (CC BY-SA 2.0) Noam Chomsky’s political views attract so much attention that it’s easy to forget he’s a scientist, one of the most influential who ever lived. Beginning in the 1950s, Chomsky contended that all humans possess an innate capacity for language, activated in infancy by minimal environmental stimuli. He has elaborated and revised his theory of language acquisition ever since. Chomsky’s ideas have profoundly affected linguistics and mind-science in general. Critics attacked his theories from the get-go and are still attacking, paradoxically demonstrating his enduring dominance. Some attacks are silly. For example, in his new book A Kingdom of Speech Tom Wolfe asserts that both Darwin and “Noam Charisma” were wrong. (See journalist Charles Mann’s evisceration of Wolfe.) © 2016 Scientific American

Keyword: Language
Link ID: 22927 - Posted: 11.29.2016

By Sarah Kaplan I don't know if the holidays are as emotional for you as they are for me, but I have never been able to get through this season without shedding buckets of tears. Why do we cry in the first place? Does it actually do anything to make us feel better? Here's what science has to say: Girl, we feel you. (Or guy. Guys can cry, too. And psychologists say that emotional control probably isn't good for men. So go ahead and let it out.) Anyway. You shouldn't feel shame about shedding tears of emotion. Weeping is part of what makes you human. Although other animals may yelp or whimper in pain or fear, and many creatures have tear ducts in their eyes to help flush out dirt and irritants, humans are the only species known to cry for emotional reasons. And scientists aren't really sure why. One theory is that tears are a communication tool. Before they learn to speak, babies cry to get attention. They start out with tearless wails, but at around three or four months, they start to weep when upset as well. Evolutionary psychologists have argued that infants' tears are related to the distress vocalizations produced by other young animals: Crying conveys their need for parental care. It's also thought that a baby's crying has evolved to be especially evocative for parents — something few stressed-out, sleep-deprived parents of newborns would disagree with. This theory would explain the loud, chaotic tantrums thrown by children when hurt or distressed. But what about adult emotional tears, which are usually much quieter? In those cases, crying could be a method of “conspecific communication” — a way of alerting sympathetic neighbors that something is wrong, without attracting the attention of a predator. © 1996-2016 The Washington Post

Keyword: Emotions
Link ID: 22926 - Posted: 11.29.2016

By Smitha Mundasad Health reporter About 9,000 stroke patients a year are missing out on a treatment that can prevent disability following a stroke, say UK experts. Clot retrieval can restore blood flow to the brain, preventing some lasting damage, but currently only 600 patients a year get this therapy, they estimate. A national stroke audit reveals part of the problem is a lack of skilled staff to do the procedure. NHS England says stroke patients are receiving high quality care. During a stroke, the blood supplying vital parts of the brain is interrupted. The most common reason is a clot blocking a major blood vessel in the head, although some strokes are caused by a bleed. The longer a part of the brain is starved of blood, the more likely lasting damage - such as paralysis and speech problems - will occur. Expanding mesh While many people with a stroke caused by a clot currently get drugs to help dissolve the blockage, this does not always work completely. Thrombectomy - or clot retrieval - is another method, which aims to remove the clot mechanically. It is a highly skilled operation, and stroke services need to be set up to be able to deliver the treatment. A thin metal wire housing a mesh is inserted into a major artery in the leg and, under X-ray guidance, it is directed to the site of the problem in the brain. The mesh is then expanded, like a miniature fishing net, to trap and remove the clot. 'Once the clot was out, the damage stopped' © 2016 BBC

Keyword: Stroke
Link ID: 22923 - Posted: 11.29.2016

By Ben Andrew Henry As a graduate student in the field of olfactory neuroscience, conducting what his former mentor describes as ambitiously clever research, Jason Castro felt something was missing. “I wanted to use science to make a connection with people,” he says, not just to churn out results. In 2012, the 34-year-old Castro accepted a faculty position at Bates College, a small liberal arts school in Maine, in order to “do the science equivalent of running a mom-and-pop—a small operation, working closely with students, and staying close to the data and the experiments myself,” he says. Students who passed through his lab or his seminars recall Castro as a dedicated mentor. “He spent hours with me just teaching me how to code,” recalled Torben Noto, a former student who went on to earn a PhD in neuroscience. After he arrived at Bates, Castro, along with two computational scientists, enlisted big-data methodologies to search for the olfactory equivalent of primary colors: essential building blocks of the odors we perceive. Their results, based on a classic set of data in which thousands of participants described various odors, identify 10 basic odor categories.1 Castro launched another project a few months later, when a paper published in Science reported that humans could discriminate between at least a trillion different odors. A friend from grad school, Rick Gerkin, smelled something fishy about the findings and gave Castro a call. “We became obsessed with the topic,” says Gerkin, now at Arizona State University. The researchers spent almost two years pulling apart the statistical methods of the study, finding that little tweaks to parameters such as the number of test subjects created large swings in the final estimate—a sign that the results were not robust.2 This August, the original study’s authors published a correction in Science. © 1986-2016 The Scientist

Keyword: Chemical Senses (Smell & Taste)
Link ID: 22922 - Posted: 11.29.2016

By C. CLAIBORNE RAY Q. Is a night’s sleep physiologically beneficial even if it includes emotionally disturbing nightmares? A. Almost certainly yes, said Dr. Neomi Shah, a specialist at the Mount Sinai Integrative Sleep Center in New York. Despite the problems nightmares can cause, sleeping and having them is better than not sleeping, research suggests. Nightmares can make it difficult to sleep and interfere with daytime functioning, but physiological indicators of sleep patterns and quality do not differ in people who have nightmares, Dr. Shah said. Frequent long, distressing and vivid dreams often wake people and cause problems like insomnia and poor sleep quality, she said. Research has also consistently demonstrated that nightmares can harm general well-being, affect mood and elevate stress. Some studies suggest there are measurable sleep problems for people who have nightmares, while others show no difference. The studies that show such a link found that people who woke up stayed awake longer and that certain stages of sleep did not last as long. But people in those studies who had nightmares also had longer periods of rapid eye movement, or REM, sleep, when most dreaming occurs. A weakness of these studies is that they were not conducted in the subjects’ normal sleeping environment. A more recent study in such an environment found no differences in so-called sleep architecture, sleep-cycle and REM durations, or sleep patterns for just the nights with nightmares. © 2016 The New York Times Company

Keyword: Sleep
Link ID: 22921 - Posted: 11.29.2016

By PAGAN KENNEDY Abby Solomon suffers from a one-in-a-billion genetic syndrome: After just about an hour without food, she begins to starve. She sleeps in snatches. In her dreams she gorges on French fries. But as soon as she wakes up and nibbles a few bites, she feels full, so she ends up consuming very few calories. At 5 feet 10 inches tall, she weighs 99 pounds. Now 21 years old, she is one of the few people in the world to survive into adulthood with neonatal progeroid syndrome, a condition that results from damage to the FBN1 gene. This mutation mangles noses and eyes and destroys the layer of fat under the skin so that even teenagers look middle-aged. It also interferes with the body’s ability to make a hormone called asprosin, which regulates blood sugar. Atul Chopra, a medical geneticist at Baylor College of Medicine, told me that people with the disorder don’t experience ordinary hunger — instead they waver on the edge of hypoglycemia and must constantly snack to keep from passing out. And yet when I asked Ms. Solomon if she wished she could magically repair her damaged gene, she answered without hesitation: “I wouldn’t change it for anything.” This is because her painful body may hold the clues to a lifesaving treatment for millions of people with obesity and diabetes. Dr. Chopra told me that, as far as medical science is concerned, Abby Solomon is worth thousands of the rest of us. By observing her, scientists can see how a hormone deficiency affects a living person, from her thoughts to her liver function. Several years ago, she spent a day inside a metabolic chamber in a lab so that Dr. Chopra could measure everything she breathed and ate. The results showed that Ms. Solomon takes in about half the calories of a typical woman her age, and also expends half as much energy. “Nothing comes close to starting with people who are naturally different,” he said. This is why he searches out patients at the extreme ends of the spectrum — those who are wired to weigh 80 pounds or 380 pounds. He said, “We have the opportunity to help a bigger swath of humanity when we learn from these outliers.” © 2016 The New York Times Company

Keyword: Obesity; Genes & Behavior
Link ID: 22919 - Posted: 11.28.2016