Darby Saxbe Flinching as a gunshot whizzes past your window. Covering your ears when a police car races down your street, sirens blaring. Walking past a drug deal on your block or a beating at your school. For kids living in picket-fence suburbia, these experiences might be rare. But for their peers in urban poverty, they are all too commonplace. More than half of children and adolescents living in cities have experienced some form of community violence – acts of disturbance or crime, such as drug use, beatings, shootings, stabbings and break-ins, within their neighborhoods or schools. Researchers know from decades of work that exposure to community violence can lead to emotional, social and cognitive problems. Kids might have difficulty regulating emotions, paying attention or concentrating at school. Over time, kids living with the stress of community violence may become less engaged in school, withdraw from friends or show symptoms of post-traumatic stress, like irritability and intrusive thoughts. In short, living in an unsafe community can have a corrosive effect on child development. Few studies, though, have specifically looked at the toll community violence may take on the growing brain. Recently, I studied this question in collaboration with a team of researchers here at the University of Southern California. Our goal: to see whether individuals exposed to more community violence in their early teen years would show differences in the structure and function of their brains in late adolescence. © 2010–2018, The Conversation US, Inc.

Keyword: Aggression; Development of the Brain
Link ID: 25087 - Posted: 06.14.2018

By Hannah Furfaro, Spectrum Boys with autism have smaller heads, are shorter and weigh less at birth than their typical peers do—but all that changes by age 3, a new study suggests. The new work is among the first to link autism to rapid skeletal growth. “Mapping physical growth as well as growth in head circumference is really important because it implicates a lot of other mechanisms that might be involved, not just the brain,” says Cheryl Dissanayake, professor of developmental psychology at La Trobe University in Melbourne, Australia, who co-led the work. Advertisement The findings hint that children with autism are smaller in utero, but their growth then accelerates: They catch up and surpass typical children in height and head size between birth and age 3. The results from the new study contrast with those from a 2014 report that found no difference in the rate of head or body growth between infants at risk for autism and controls. But many other studies have found differences in head size in children and adolescents with autism. “It’s now quite clear that growth dysregulation is a key and important phenomenon in autism,” says Eric Courchesne, co-director of the Autism Center of Excellence at the University of California, San Diego, who was not involved in the research. Growth spurt: The researchers reviewed growth charts for 135 boys with autism and 74 typical boys who live in Victoria, Australia. (They excluded children taking medications that affect growth and those born prematurely.) © 2018 Scientific American

Keyword: Autism; Development of the Brain
Link ID: 25078 - Posted: 06.11.2018

By Clyde Haberman For nine frustrating years, Lesley and John Brown tried to conceive a child but failed because of her blocked fallopian tubes. Then in late 1977, this English couple put their hopes in the hands of two men of science. Thus began their leap into the unknown, and into history. On July 25, 1978, the Browns got what they had long wished for with the arrival of a daughter, Louise, a baby like no other the world had seen. She came into being through a process of in vitro fertilization developed by Robert G. Edwards and Patrick Steptoe. Her father’s sperm was mixed with her mother’s egg in a petri dish, and the resulting embryo was then implanted into the womb for normal development. Louise was widely, glibly and incorrectly called a “test-tube baby.” The label was enough to throw millions of people into a moral panic, for it filled them with visions of Dr. Frankenstein playing God and throwing the natural order of the universe out of kilter. The reality proved far more benign, maybe best captured by Grace MacDonald, a Scottish woman who in January 1979 gave birth to the second in vitro baby, a boy named Alastair. Nothing unethical was at work, she told the BBC in 2003. “It’s just nature being given a helping hand.” In this installment of its video documentaries, Retro Report explores how major news stories of the past shape current events by harking back to Louise Brown’s birth. If anything, more modern developments in genetics have raised the moral, ethical and political stakes. But the fundamental questions are essentially what they were in the 1970s with the advent of in vitro fertilization: Are these welcome advances that can only benefit civilization? Or are they incursions into an unholy realm, one of “designer babies,” with potentially frightening consequences? In vitro fertilization, or I.V.F., is by now broadly accepted, though it still has objectors, including the Roman Catholic Church. Worldwide, the procedure has produced an estimated six million babies, and is believed to account for 3 percent of all live births in some developed countries. Designer-baby fears have proved in the main to be “overblown,” said Dr. Paula Amato, a professor of obstetrics and gynecology at Oregon Health & Science University in Portland. “We have not seen it with I.V.F. in general,” she told Retro Report. “We have not seen it with P.G.D.” © 2018 The New York Times Company

Keyword: Development of the Brain; Genes & Behavior
Link ID: 25077 - Posted: 06.11.2018

by Anthea Rowan When Mike Shooter was in medical school, he suffered the first of what he calls “thunderous depressions.” More followed. Shooter’s efforts to come to grips with these experiences has made him acutely aware of what young people with mental-health problems endure and forged his career as a preeminent child psychiatrist in England. He was the first such specialist to be elected president of the Royal College of Psychiatrists, a position he held from 2002 to 2005. Recently he published “Growing Pains,” which is based on 40 years of working with young people. The book explains why it’s imperative to differentiate between depression and the ordinary but often intense difficulties some children face. He recently spoke with The Washington Post on these issues. This transcript was edited for clarity and length. Q: Do you think young people are more vulnerable to mental illness now? A: Research suggests that the United Kingdom is the least happy place for a child to be brought up in the Western world; America cannot be far behind. Some of this could be attributed to the grinding effect of poverty. But not all: The frenetic competition, in school, in the scramble for jobs, in peer-group relationships, means many children fall off the bottom of the ladder of competition and feel as if they’ve failed. Or are so unsure of their own worth that they sit up all night searching for “likes” on social media in lieu of proper friendships. But it’s not all bad news. There is currently much research into resilience: what enables some children to cope while others do not. I know from experience that there is one thing that can make all the difference: a relationship with an adult close enough to them, that supports them, listens to their distress and treats them as worthwhile. That person could be a relative, a family friend, a teacher or, dare I say it, a child psychiatrist. © 1996-2018 The Washington Post

Keyword: Depression; Development of the Brain
Link ID: 25074 - Posted: 06.11.2018

Aimee Cunningham American kids with food allergies are more than twice as likely to have autism spectrum disorder as kids without, a study of national health data finds. The population-based finding adds to experimental evidence that there may be a connection between false steps or overreactions by the immune system and the neurodevelopmental disorder. Researchers looked only for an association between allergies and autism spectrum disorder, or ASD, among a total of 199,520 children ages 3 to 17 surveyed from 1997 to 2016 as part of the U.S. National Health Interview Survey. The study was not designed to discover what may be behind the link. The team found that, out of 1,868 children with autism, 216 had a food allergy — or about 11 percent. By comparison, only about 4 percent of children without autism had a food allergy, the researchers report online June 8 in JAMA Network Open. Kids with autism were also more likely to have respiratory or skin allergies like eczema than kids without autism. The number of children with autism has more than doubled since 2000, to a prevalence of 16.8 per 1,000 kids. Meanwhile, the number of kids with food allergies rose from 3.4 percent in 1997–1999 to 5.1 percent in 2009–2011. It is unknown whether developing food allergies may contribute to the development of autism, or vice versa, or if something else is causing both, says study coauthor and epidemiologist Wei Bao of the University of Iowa’s College of Public Health in Iowa City. “The causes of ASD remain unclear,” he says. |© Society for Science & the Public 2000 - 2018.

Keyword: Autism; Neuroimmunology
Link ID: 25072 - Posted: 06.09.2018

/ By Michael Schulson Biswaroop Roy Chowdhury is an Indian engineer with, he says, an honorary Ph.D. in diabetes science from Alliance International University, a school in Zambia that bears many of the hallmarks of an online scam. He runs a small nutrition clinic near Delhi. Two months ago, Chowdhury posted a brief video on YouTube arguing that HIV is not real, and that anti-retroviral medication actually causes AIDS. He offered to inject himself with the blood of someone who had tested positive. Within weeks, the video had more than 380,000 views on YouTube. Tens of thousands more people watched on Facebook. Most of the viewers appear to be in India, where some 60,000 people die of HIV-related causes each year. After the March video, Chowdhury kept on posting. Follow-up videos on HIV racked up hundreds of thousands more hits. He also distributed copies of an ebook titled “HIV-AIDS: The Greatest Lie of 21st Century.” When I spoke with Chowdhury by phone last month, he claimed that 700 people had gotten in touch to say they had gone off their HIV medications. The actual number, he added, might be even higher. “We don’t know what people are doing on their own. I can only tell you about the people who report to us,” he said. Chowdhury’s figures are impossible to verify, but his skills with digital media are apparent — as are the troubling questions they raise about the role of Silicon Valley platforms in spreading misinformation. Such concerns, of course, aren’t new: Over the past two years, consumers, lawmakers, and media integrity advocates in the United States and Europe have become increasingly alarmed at the speed with which incendiary, inaccurate, and often deliberately false content spreads on sites like Facebook and YouTube — the latter a Google subsidiary. Copyright 2018 Undark

Keyword: Autism
Link ID: 25065 - Posted: 06.07.2018

By Elizabeth Pennisi Three nearly identical genes could help explain how 0.5 liters of gray matter in early human ancestors became the 1.4-liter organ that has made our species so successful and distinctive. The newly identified genes could also help explain how brain development sometimes goes wrong, leading to neurological disorders. The genes, descendants of an ancient developmental gene that multiplied and changed in the course of evolution, add to a growing list of DNA implicated in human brain expansion. But they stand out because so much has been learned about how they work their magic, says James Noonan, an evolutionary genomicist at Yale University. Researchers have shown that this trio boosts the number of potential nerve cells in brain tissue, and one team even pinned down the protein interactions likely responsible. “These are new proteins that are potentially modifying a very important pathway in brain development in a very powerful way,” Noonan adds. Until now, the four genes were thought to be one, NOTCH2NL, itself a spinoff of the NOTCH gene family, which controls the timing of development in everything from fruit flies to whales. But two studies in the 31 May issue of Cell trace a series of genetic accidents in recent evolutionary history that have yielded four very closely related NOTCH2NL genes in humans (see graphic, below). David Haussler, a bioinformatician at the University of California, Santa Cruz, and his colleagues got on the trail of the genes after they discovered that the NOTCH pathway works differently in human and macaque brain organoids—test tube models of the developing brain. NOTCH2NL was missing in the macaque organoid and, later analyses showed, in other nonhuman apes as well. That suggested NOTCH2NL might have played a unique role in human evolution. © 2018 American Association for the Advancement of Science.

Keyword: Evolution; Development of the Brain
Link ID: 25046 - Posted: 06.01.2018

By Jessica Wright | A new patent on variants in an autism gene is unlikely to hold up in court, some experts say, but may still hamper research. In December, LabCorp, a healthcare diagnostics company in Burlington, North Carolina, received a patent that appears to cover any test that can identify three variants in the gene HOMER1. The patent relates to the testing of these variants to signal an increase in autism risk in a child or fetus. But the patent might also allow LabCorp to charge a licensing fee to any scientists who wish to sequence HOMER1 in people who may have autism. The patent revives a debate that many scientists hoped was behind them. In 2013, in response to the controversy over a breast cancer gene patent, the U.S. Supreme Court ruled that genes cannot be patented. “Gene patents restrict access to genetic tests; they restrict access to confirmatory testing and second opinions; they squelch sharing of data and they squelch research,” says James Evans, who headed a government advisory task force on the impact of gene patents. “That should be a settled issue, so it’s very depressing to see that at least in some people’s minds, it’s not.” Evans is professor of genetics and medicine at the University of North Carolina at Chapel Hill. © 1986-2018 The Scientist

Keyword: Autism; Genes & Behavior
Link ID: 25043 - Posted: 06.01.2018

Mark Brown Arts correspondent Teenagers are being damaged by the British school system because of early start times and exams at 16 when their brains are going through enormous change, a leading neuroscientist has said. Sarah-Jayne Blakemore said it was only in recent years that the full scale of the changes that take place in the adolescent brain has been discovered. “That work has completely revolutionised what we think about this period of life,” she said. Blakemore, a professor in cognitive neuroscience at University College London, told the Hay festival that teenagers were unfairly mocked and demonised for behaviour they had no control over, whether that was moodiness, excessive risk-taking, bad decision making or sleeping late. The changes in the brain were enormous, she said, with substantial rises in white matter and a 17% fall in grey matter, which affects decision making, planning and self-awareness. All parents know that teenagers would sleep late if they could but it is all to do with brain changes, she said. “It is not because they are lazy, it is because they go through a period of biological change where melatonin, which is the hormone humans produce in the evenings and makes us feel sleepy, is produced a couple of hours later than it is in childhood or adulthood.” They are then forced to go to school when their brain says they should still be sleeping. That is then exacerbated at weekends when teenagers try to catch up by sleeping until lunchtime – what Blakemore called “social jetlag”. © 2018 Guardian News and Media Limited

Keyword: Development of the Brain; Biological Rhythms
Link ID: 25035 - Posted: 05.30.2018

By Shawna Williams | Complications during pregnancy can magnify the effect of genetic risk factors for schizophrenia by altering gene expression in the placenta, a new study suggests. The paper appeared yesterday (May 28) in Nature Medicine. “To me the key thing in this paper is the recognition that environmental factors in early development, prenatal factors, are likely to be very important in schizophrenia and just as important as genes,” Allan Brown of Columbia University Medical Center who was not involved in the study tells Scientific American. An international team of researchers analyzed data from nearly 3,000 participants, including people with schizophrenia and healthy controls. The researchers found that, among people with known genetic risk factors, those who were products of a pregnancy complicated by conditions such as preeclampsia or diabetes were at least five times more likely to have the disease than were people born of uncomplicated pregnancies. The researchers also analyzed gene expression in placental tissue from complicated and uncomplicated pregnancies. That assay revealed that genes associated with schizophrenia risk tended to be “turned on” in the placentas from complicated pregnancies, and that higher expression of those genes was associated with inflammation and other signs of stress in the tissue. “We need to create a new risk score for schizophrenia, incorporating not only genes but also placental health,” study coauthor Daniel Weinberger of the Lieber Institute for Brain Research and the Johns Hopkins University School of Medicine tells STAT. “The odds of becoming schizophrenic based on your polygenic risk score is more than 10 times greater with these early-life complications than without them.” © 1986-2018 The Scientist

Keyword: Schizophrenia; Development of the Brain
Link ID: 25032 - Posted: 05.30.2018

By Dana G. Smith About 60 to 70 percent of a person’s risk for schizophrenia depends on their genes. Most of us have some of the schizophrenia-associated genetic variants—single-letter changes in the DNA of genes scattered across our genome—and the more we have, the greater our risk. At the same time, scientists have known that complications during pregnancy, including viral infections in the mother, increase the fetus’s risk for developing schizophrenia by two-fold, but scientists have been unsure why. New research published in Nature Medicine on May 28 reveals how when these two risk factors interact, the likelihood of an individual eventually being diagnosed with schizophrenia goes up at least five-fold compared to someone with a high genetic risk alone. Daniel Weinberger, director of the Lieber Institute for Brain Development in Baltimore and team discovered that roughly a third of the genes associated with schizophrenia are in the placenta. But certain variations in the DNA of these genes only result in schizophrenia if there are complications during pregnancy. The gene variants likely affect how resilient the placenta is to stress from its environment. If the mother or baby experiences a major health complication during pregnancy, the variants could activate these genes in the placenta and induce inflammation or affect the fetus’s development, increasing the risk for schizophrenia later in life. “The placenta is the missing link between maternal risk factors that complicate pregnancies and the development of the fetal brain and the emergence of developmental behavioral disorders,” Weinberger says. © 2018 Scientific American

Keyword: Schizophrenia; Development of the Brain
Link ID: 25029 - Posted: 05.29.2018

By Matthew Hutson It's a Saturday morning in February, and Chloe, a curious 3-year-old in a striped shirt and leggings, is exploring the possibilities of a new toy. Her father, Gary Marcus, a developmental cognitive scientist at New York University (NYU) in New York City, has brought home some strips of tape designed to adhere Lego bricks to surfaces. Chloe, well-versed in Lego, is intrigued. But she has always built upward. Could she use the tape to build sideways or upside down? Marcus suggests building out from the side of a table. Ten minutes later, Chloe starts sticking the tape to the wall. "We better do it before Mama comes back," Marcus says in a singsong voice. "She won't be happy." (Spoiler: The wall paint suffers.) Implicit in Marcus's endeavor is an experiment. Could Chloe apply what she had learned about an activity to a new context? Within minutes, she has a Lego sculpture sticking out from the wall. "Papa, I did it!" she exclaims. In her adaptability, Chloe is demonstrating common sense, a kind of intelligence that, so far, computer scientists have struggled to reproduce. Marcus believes the field of artificial intelligence (AI) would do well to learn lessons from young thinkers like her. Researchers in machine learning argue that computers trained on mountains of data can learn just about anything—including common sense—with few, if any, programmed rules. These experts "have a blind spot, in my opinion," Marcus says. "It's a sociological thing, a form of physics envy, where people think that simpler is better." He says computer scientists are ignoring decades of work in the cognitive sciences and developmental psychology showing that humans have innate abilities—programmed instincts that appear at birth or in early childhood—that help us think abstractly and flexibly, like Chloe. He believes AI researchers ought to include such instincts in their programs. © 2018 American Association for the Advancement of Science.

Keyword: Learning & Memory; Development of the Brain
Link ID: 25026 - Posted: 05.26.2018

By Judith Graham, You’ve turned 65 and exited middle age. What are the chances you’ll develop cognitive impairment or dementia in the years ahead? New research about “cognitive life expectancy”—how long older adults live with good versus declining brain health—shows that after age 65 men and women spend more than a dozen years in good cognitive health, on average. And, over the past decade, that time span has been expanding. By contrast, cognitive challenges arise in a more compressed time frame in later life, with mild cognitive impairment (problems with memory, decision-making or thinking skills) lasting about four years, on average, and dementia (Alzheimer’s disease or other related conditions) occurring over 1½ to two years. Even when these conditions surface, many seniors retain an overall sense of well-being, according to new research presented last month at the Population Association of America’s annual meeting. “The majority of cognitively impaired years are happy ones, not unhappy ones,” said Anthony Bardo, a co-author of that study and assistant professor of sociology at the University of Kentucky-Lexington. Recent research finds that: Most seniors don’t have cognitive impairment or dementia. Of Americans 65 and older, about 20 to 25 percent have mild cognitive impairment while about 10 percent have dementia, according to Dr. Kenneth Langa, an expert in the demography of aging and a professor of medicine at the University of Michigan. Risks rise with advanced age, and the portion of the population affected is significantly higher for people over 85. © 2018 Scientific American

Keyword: Alzheimers
Link ID: 25022 - Posted: 05.25.2018

By Jim Daley The organizer, a group of cells in the embryo that directs the developmental fates and morphogenesis of other embryonic cells, has been identified in human tissue for the first time, according to a study published today (May 23) in Nature. The discovery demonstrates that the organizer is evolutionarily conserved from amphibians to humans. “For many of us this was always the Holy Grail” of developmental biology, says Guillermo Oliver, the director of the Northwestern Feinberg School of Medicine’s Center for Vascular and Developmental Biology, who was not involved in the study. “The fact that now you can take stem cells and recapitulate those properties with the combination of actors reported here . . . is quite remarkable.” Rockefeller University embryologist Ali Brivanlou and colleagues report that when they grafted human stem cells that they’d treated with Wnt and Activin, two signaling proteins previously shown to be involved in organizer gene expression in other animals, into chick embryos, the grafted cells set off the developmental progress of the cells around them. The experiment establishes for the first time that the organizer exists in humans and that Wnt and Activin work in concert to make it possible for cells to direct embryonic development. S The search for the organizer, and with it the field of modern embryology, began nearly a century ago. Hilde Mangold, a PhD candidate in the lab of German zoologist Hans Spemann, wrote a dissertation in 1924 that described the organizer for the first time. Mangold and Spemann observed a distinct shape and morphology in some of the cells along the neural axis—the portion of the embryo that will become the central nervous system and one of the first structures to form during development—in a salamander embryo. When they grafted these cells from one embryo to another, the transplanted cells induced the formation of a second developmental axis in that embryo. Spemann would go on to receive the 1935 Nobel Prize in Physiology or Medicine for the discovery; Mangold died before then in an accident. © 1986-2018 The Scientist

Keyword: Development of the Brain
Link ID: 25021 - Posted: 05.25.2018

Anya Kamenetz "I want The Three Bears!" These days parents, caregivers and teachers have lots of options when it comes to fulfilling that request. You can read a picture book, put on a cartoon, play an audiobook, or even ask Alexa. A newly published study gives some insight into what may be happening inside young children's brains in each of those situations. And, says lead author Dr. John Hutton, there is an apparent "Goldilocks effect" — some kinds of storytelling may be "too cold" for children, while others are "too hot." And, of course, some are "just right." Hutton is a researcher and pediatrician at Cincinnati Children's Hospital with a special interest in "emergent literacy" — the process of learning to read. For the study, 27 children around age 4 went into an FMRI machine. They were presented with stories in three conditions: audio only; the illustrated pages of a storybook with an audio voiceover; and an animated cartoon. All three versions came from the Web site of Canadian author Robert Munsch. While the children paid attention to the stories, the MRI, the machine scanned for activation within certain brain networks, and connectivity between the networks. "We went into it with an idea in mind of what brain networks were likely to be influenced by the story," Hutton explains. One was language. One was visual perception. The third is called visual imagery. The fourth was the default mode network, which Hutton calls, "the seat of the soul, internal reflection — how something matters to you." The default mode network includes regions of the brain that appear more active when someone is not actively concentrating on a designated mental task involving the outside world. In terms of Hutton's "Goldilocks effect," here's what the researchers found: © 2018 npr

Keyword: Language; Development of the Brain
Link ID: 25016 - Posted: 05.24.2018

Kelly Crowe · In a darkened room at Toronto's Krembil Research Institute, Dr. Donald Weaver is looking at a screen covered in green fluorescent dots. That's not a good thing. Those glowing green dots are exactly what this Alzheimer's researcher did not want to see. "Weeks if not months of work went into this compound and it failed," he said. "It's done." Weaver, a neurologist and chemist, was testing a compound to see if it could prevent the clumping of a protein called tau which creates distinctive tangles in the brains of people with Alzheimer's disease. If it had worked, it might have been a candidate for a new drug. But it didn't work, just like the thousands of others he's already tried. Failure is normal for researchers engaged in the frustrating search for drugs to treat Alzheimer's disease. "You have to be passionate," Weaver said. "This is a disease in which so many approaches have failed. You really have to deeply believe that your approach is correct just to get up every day and keep working at it." Many promising drugs have failed But after a series of high-profile drug failures over the past few years, scientists are facing the disturbing possibility that their leading theory of Alzheimer's might be fatally flawed. It's called the amyloid hypothesis, and it was an obvious target for researchers because the amyloid protein forms distinctive plaques in the brains of people with Alzheimer's. "That led to the conclusion it must be playing a pretty important role in the disease," Weaver said. The amyloid hypothesis was first proposed in 1992, and for the past 25 years research has focused on finding compounds that clear amyloid from the brain or slow down its production. ©2018 CBC/Radio-Canada.

Keyword: Alzheimers
Link ID: 25015 - Posted: 05.24.2018

By Darold A. Treffert How many children have “autism”? Is that number increasing? Is there an “epidemic” of autism or have we merely been continually refining it, expanding it and moving the goalposts since it was first described by Leo Kanner in 1943? I met my first child with autism in 1959, almost 60 years ago. I had the good fortune to learn about autism firsthand from Kanner himself, when he was a visiting professor at the University of Wisconsin Medical School and I was a medical student there. Then, in 1962, I started a Children’s Unit at Winnebago Mental Health Institute in Wisconsin, on which almost all the children were autistic. That’s also the unit on which I met my first savant. The question of autism prevalence engaged me even then. In 1970, I carried out the first U.S. study of the epidemiology of infantile autism, published in Archives of General Psychiatry. Actually, autism was then most commonly diagnosed formally as childhood schizophrenia. At that time, the Wisconsin Department of Health and Human services provided me with a printout listing all patients age 12 and under seen for evaluation or treatment and given a diagnosis of childhood schizophrenia between fiscal 1962 and 1967 in 30 community mental health and child guidance clinics; four state and county mental hospitals; three colonies NOT REAL NAMES and training schools; and the children’s treatment center, children’s diagnostic center and university hospitals. © 2018 Scientific American,

Keyword: Autism
Link ID: 25014 - Posted: 05.24.2018

By Ashley Yeager Twenty years ago, Ilyce Randell and her husband received devastating news: their son Maxie, who was a little over four months old at the time, had Canavan disease. Maxie would never walk or talk, and he likely wouldn’t live past age 10. Not much could be done to help their son, the couple was told, though a geneticist offhandedly remarked that researchers were developing a gene therapy that might lessen Maxie’s symptoms or extend his life. But the Randells also learned that there was no funding available for a clinical trial on the gene therapy. Recently married, the couple contacted the same people they had invited to their wedding. Randell wrote a letter describing her son’s illness and included a photo of Maxie grinning. “That was my first fundraising campaign,” she says. It was also the start of Canavan Research Illinois, the Randell family’s foundation. Canavan disease is caused by mutations to the ASPA gene, which encodes an enzyme, aspartoacylase, that breaks down N-acetyl-L-aspartic acid. Without aspartoacylase, the acid builds up in the brain’s neurons and prevents their axons from being coated in fatty myelin sheaths. As a result, electrical signals don’t travel as efficiently from nerve cell to nerve cell. Neurons in the brain break down, leaving the organ spongy and leading to intellectual disabilities, loss of movement, abnormal muscle tone, and seizures, among other symptoms. In the first US trial of a gene therapy for Canavan, researchers tried encasing healthy copies of ASPA in liposomes and injecting them into the brain through an intraventricular catheter attached to a small, plastic, dome-shaped reservoir placed just beneath the scalp. The researchers injected the gene therapy into the reservoir, and it then diffused into the cerebrospinal fluid. In 1999, Maxie became one of 16 patients to receive the treatment. Maxie and his cohort showed some improvements in vision and movement, but the children weren’t cured. © 1986-2018 The Scientist

Keyword: Development of the Brain
Link ID: 25008 - Posted: 05.23.2018

By Carl Zimmer James Priest couldn’t make sense of it. He was examining the DNA of a desperately ill baby, searching for a genetic mutation that threatened to stop her heart. But the results looked as if they had come from two different infants. “I was just flabbergasted,” said Dr. Priest, a pediatric cardiologist at Stanford University. The baby, it turned out, carried a mixture of genetically distinct cells, a condition known as mosaicism. Some of her cells carried the deadly mutation, but others did not. They could have belonged to a healthy child. We’re accustomed to thinking of our cells sharing an identical set of genes, faithfully copied ever since we were mere fertilized eggs. When we talk about our genome — all the DNA in our cells — we speak in the singular. But over the course of decades, it has become clear that the genome doesn’t just vary from person to person. It also varies from cell to cell. The condition is not uncommon: We are all mosaics. For some people, that can mean developing a serious disorder like a heart condition. But mosaicism also means that even healthy people are more different from one another than scientists had imagined. In medieval Europe, travelers making their way through forests sometimes encountered a terrifying tree. A growth sprouting from the trunk looked as if it belonged to a different plant altogether. It formed a dense bundle of twigs, the sort that people might fashion into a broom. Germans call it Hexenbesen: witches’ broom. As legend had it, witches used magic spells to conjure the brooms to fly across the night sky. The witches used some as nests, too, leaving them for hobgoblins to sleep in. In the 19th century, plant breeders found that if they cut witches’ broom from one tree and grafted it to another, the broom would grow and produce seeds. Those seeds would sprout into witches’ broom as well. © 2018 The New York Times Company

Keyword: Epigenetics
Link ID: 25006 - Posted: 05.22.2018

Michaeleen Doucleff Six months ago, Melissa Nichols brought her baby girl, Arol, home from the hospital. And she immediately had a secret. "I just felt guilty and like I didn't want to tell anyone," says Nichols, who lives in San Francisco. "It feels like you're a bad mom. The mom guilt starts early, I guess." Across town, first-time mom Candyce Hubbell has the same secret — and she hides it from her pediatrician. "I don't really want be lectured," she says. "I know what her stance will be on it." The way these moms talk about their secret, you might think they're putting their babies in extreme danger. Perhaps drinking and driving with the baby in the car? Or smoking around the baby? But no. What they're hiding is this: They hold the baby at night while they sleep together in the bed. Here in the U.S., this is a growing trend among families. More moms are choosing to share a bed with their infants. Since 1993, the practice in the U.S. has grown from about 6 percent of parents to 24 percent in 2015. But the practice goes against medical advice in the U.S. The American Academy of Pediatrics is opposed to bed-sharing: It "should be avoided at all times" with a "[full-]term normal-weight infant younger than 4 months," the AAP writes in its 2016 recommendations for pediatricians. The organization says the practice puts babies at risk for sleep-related deaths, including sudden infant death syndrome, accidental suffocation and accidental strangulation. About 3,700 babies die each year in the U.S. from sleep-related causes. © 2018 npr

Keyword: Sleep; Development of the Brain
Link ID: 25002 - Posted: 05.21.2018