By Pam Belluck Before dawn on a March morning, Doug Whitney walked into a medical center 2,000 miles from home, about to transform from a mild-mannered, bespectacled retiree into a superhuman research subject. First, a doctor inserted a needle into his back to extract cerebral spinal fluid — “liquid gold,” a research nurse called it for the valuable biological information it contains. Then, the nurse took a sample of his skin cells. After that came an injection of a radioactive tracer followed by a brain scan requiring him to lie still for 30 minutes with a thermoplastic mask over his face. Then, another tracer injection and another brain scan. During his three-day visit to the center, at Washington University School of Medicine in St. Louis, he also had cognitive assessments, neurological evaluations and blood draws that extracted multiple tubes for analysis. For 14 years now, Mr. Whitney has been the one-person focus of exceptionally detailed scientific investigation, for which he travels periodically to St. Louis from his home in Port Orchard, Wash. It is not because he is ill. It is because he was supposed to be ill. Mr. Whitney, 76, is a scientific unicorn with potential to provide answers about one of the world’s most devastating diseases. He has a rare genetic mutation that essentially guaranteed he would develop Alzheimer’s disease in his late 40s or early 50s and would likely die within a decade. His mother and nine of her 13 siblings developed Alzheimer’s and died in the prime of their lives. So did his oldest brother, and other relatives going back generations. It is the largest family in the United States known to have an Alzheimer’s-causing mutation. “Nobody in history had ever dodged that bullet,” Mr. Whitney said. © 2025 The New York Times Company

Keyword: Alzheimers; Genes & Behavior
Link ID: 29962 - Posted: 10.08.2025

Asif Ghazanfar Picture someone washing their hands. The water running down the drain is a deep red. How you interpret this scene depends on its setting, and your history. If the person is in a gas station bathroom, and you just saw the latest true-crime series, these are the ablutions of a serial killer. If the person is at a kitchen sink, then perhaps they cut themselves while preparing a meal. If the person is in an art studio, you might find resonance with the struggle to get paint off your hands. If you are naive to crime story tropes, cooking or painting, you would have a different interpretation. If you are present, watching someone wash deep red off their hands into a sink, your response depends on even more variables. How we act in the world is also specific to our species; we all live in an ‘umwelt’, or self-centred world, in the words of the philosopher-biologist Jakob von Uexküll (1864-1944). It’s not as simple as just taking in all the sensory information and then making a decision. First, our particular eyes, ears, nose, tongue and skin already filter what we can see, hear, smell, taste and feel. We don’t take in everything. We don’t see ultraviolet light like a bird, we don’t hear infrasound like elephants and baleen whales do. Second, the size and shape of our bodies determine what possible actions we can take. Parkour athletes – those who run, vault, climb and jump in complex urban environments – are remarkable in their skills and daring, but sustain injuries that a cat doing the exact same thing would not. Every animal comes with a unique bag of tricks to exploit their environment; these tricks are also limitations under different conditions. Third, the world, our environment, changes. Seasons change, what animals can eat therefore also changes. If it’s the rainy season, grass will be abundant. The amount of grass determines who is around to eat it and therefore who is around to eat the grass-eaters. Ultimately, the challenge for each of us animals is how to act in this unstable world that we do not fully apprehend with our senses and our body’s limited degrees of freedom. There is a fourth constraint, one that isn’t typically recognised. Most of the time, our intuition tells us that what we are seeing (or hearing or feeling) is an accurate representation of what is out there, and that anyone else would see (or hear or feel) it the same way. But we all know that’s not true and yet are continually surprised by it. It is even more fundamental than that: you know that seemingly basic sensory information that we are able to take in with our eyes and ears? It’s inaccurate. How we perceive elementary colours, ‘red’ for example, always depends on the amount of light, surrounding colours and other factors. In low lighting, the deep red washing down the sink might appear black. A yellow sink will make it look more orange; a blue sink may make it look violet. © Aeon Media Group Ltd. 2012-2025.

Keyword: Vision; Attention
Link ID: 29961 - Posted: 10.08.2025

By Zunnash Khan You can inherit a talent for athletics from your parents, but physical fitness—which is determined in large part by exercise and other lifestyle choices—doesn’t seem like it can be inherited. But now, a paper suggests male mice that exercise can pass their newly gained fitness on to male offspring. If the same holds true in humans, the researchers say, fathers could help improve the health of any future children by staying in shape themselves. The study is the latest example of how traits can be passed to the next generation not through the DNA in genes, but via snippets of DNA’s chemical cousin, RNA, packed as cargo into sperm cells and delivered to the embryo. “You’re having the animals exercise and then you’re getting the transmission of the phenotype to the next generation,” says Colin Conine, an epigeneticist at the University of Pennsylvania who was not involved in the work. “I think that’s interesting.” Most heritable traits are passed from parents to their offspring through the DNA in genes. (Inheriting genes for a large lung volume might increase your chances of becoming a runner, for example.) But things you experience or learn—such as the ability to make a soufflé or read Sanskrit—aren’t encoded into genes and can’t be passed on this way. Still, recent advances in biology have shown there’s more to heritability than genes. Some acquired traits can alter the chemical packaging of the DNA and affect the properties of the offspring, a phenomenon known as epigenetics. Recent research has identified so-called microRNAs (miRNAs) in sperm cells as one way epigenetic information can be passed on. For example, scientists have shown that diet, stress, and toxins can have an impact on the embryo through miRNAs. A 2021 paper suggested male mice can confer a susceptibility to depression to their offspring this way. © 2025 American Association for the Advancement of Science.

Keyword: Epigenetics
Link ID: 29960 - Posted: 10.08.2025

By Meghie Rodrigues Babies start processing language before they are born, a new study suggests. A research team in Montreal has found that newborns who had heard short stories in foreign languages while in the womb process those languages similarly to their native tongue. The study, published in August in Nature Communications Biology, is the first to use brain imaging to show what neuroscientists and psychologists had long suspected. Previous research had shown that fetuses and newborns can recognize familiar voices and rhythms and even that they prefer their native language soon after birth. But these findings come mostly from behavioral cues—sucking patterns, head turns or heart rate changes—rather than direct evidence from the brain. “We cannot say babies ‘learn’ a language prenatally,” says Anne Gallagher, a neuropsychologist at the University of Montreal and senior author of the study. What we can say, she adds, is that neonates develop familiarity with one or more languages during gestation, which shapes their brain networks at birth. The research team recruited 60 people for the experiment, all of them about 35 weeks into their pregnancy. Of those, 39 exposed their fetuses to 10 minutes of prerecorded stories in French (their native language) and another 10 minutes of the same stories in either Hebrew or German at least once every other day until birth. These languages were chosen because their acoustic and phonological properties are very distinctfrom French and from each other, explains co-lead author Andréanne René, a Ph.D. candidate in clinical neuropsychology at the University of Montreal. The other 21 participants were part of the control group; their fetuses were exposed to French in their natural environments, with no special input. © 2025 SCIENTIFIC AMERICAN

Keyword: Language; Development of the Brain
Link ID: 29959 - Posted: 10.08.2025

Natasha May Health reporter Women carry a higher genetic risk of depression, a new study has found. Claiming to be the largest genetic study to date on sex differences in major depression, the research published on Wednesday in Nature Communications has found 16 genetic variants linked to depression in women and eight in men. The study, led by Australia’s QIMR Berghofer Medical Research Institute, showed a large proportion of the variants associated with depression were shared between sexes, but there was a “higher burden of genetic risk in females which could be due to female-specific variants”. Dr Brittany Mitchell, a senior researcher at QIMR Berghofer’s genetic epidemiology lab, said “we already know that females are twice as likely to suffer from depression in their lifetime than males”. “And we also know that depression looks very different from one person to another. Until now, there hasn’t been much consistent research to explain why depression affects females and males differently, including the possible role of genetics.” The study acknowledged explanations have been put forward spanning behavioural, environmental and biological domains, including men being less likely to seek help leading to under-diagnosis, and environmental exposures such as women being more frequently exposed to sexual abuse and interpersonal violence. The study stated that together these factors highlight the need for a “multifaceted approach” to understanding the underlying mechanisms of depression but proposed that a “key component of the biological mechanisms underlying these disparities could be differences in genetics”. © 2025 Guardian News & Media Limited

Keyword: Depression; Genes & Behavior
Link ID: 29958 - Posted: 10.08.2025

By Catherine Offord Neuroscientists have been studying synapses, the fundamental junctions that allow rapid communication between neurons, for well over a century. But now, a research team has identified a different set of neuronal connections in the brain—one that might bypass synapses altogether, the group reports today in Science. Using high-resolution images of mouse and human brains, the researchers documented a network of tubes, each about 3 micrometers long and just a few hundred nanometers thick, connecting neurons to one another. In mouse cells, the team found evidence of neuron-to-neuron transfer of electrical signals via these nanotubes, and even the passage of proteins linked to Alzheimer’s disease. “We’ve been looking at the brain forever now, and every once in a while, a surprise comes along,” says Lary Walker, a neuroscientist and professor emeritus at Emory University who was not involved in the work. Although there’s still a lot to pin down about these nanotubes’ basic biology, he suggests the discovery could have wide implications for scientists’ understanding of neuronal communication and disease. Researchers already knew some cells form nanotubes. In a 2004 Science paper, a team in Germany described tiny channels that emerged spontaneously between rat kidney cells in a dish and allowed the transfer of organelles. Studies since then have documented these so-called tunneling nanotubes (TNT) in a variety of cell and tissue types, and have linked their presence to processes including organ development, tissue repair, and the spread of viruses within the body. Recent research has identified TNTs forming between neurons and microglia, the brain’s immune cells, and hinted that they have important functions in brain health and disease. But scientists have struggled to find such conduits connecting neurons to one another in the mammalian brain. The search is particularly tricky because neurons’ branching ends, or dendrites, form a tangled mass with one another, and because researchers lack molecular markers distinguishing nanotubes from other cell structures. © 2025 American Association for the Advancement of Science.

Keyword: Development of the Brain; Brain imaging
Link ID: 29957 - Posted: 10.04.2025

By Devin Effinger, Melissa Herman Psychedelics show growing promise as treatments for a variety of psychiatric diseases. Clinical trials have demonstrated rapid and persistent improvements in major depressive disorder, for example, sparking interest among both psychiatrists and neuroscientists. However, the clinical use of psychedelics is challenging; the drugs induce prolonged visual hallucinations and must be administered and monitored by trained staff, which creates barriers in terms of their availability and accessibility. Clinical trials are also challenging. Psychedelics produce profound subjective effects that make it impossible to properly placebo-control or effectively blind participants. And given the widespread cultural fascination with these drugs, it’s difficult to remove expectancy bias—if someone strongly believes a drug will work, that can influence their perception and reporting of their outcome. Moreover, these drugs are typically delivered and tested in combination with psychotherapy. Discerning whether any treatment effects stem from the drug versus the psychotherapy, as well as the role of therapy in clinical response, is a point of debate within the field. To help resolve some of these issues, we need to better understand the neurobiological mechanisms involved. Human imaging studies have shown that some psychedelics, such as psilocybin, produce long-lasting alterations in global connectivity and negative affect. But to design more effective versions of these drugs, we need to uncover their underlying mechanisms of action at greater resolution—something that is possible only through preclinical research at the level of molecular, cellular and systems neuroscience. © 2025 Simons Foundation

Keyword: Drug Abuse; Depression
Link ID: 29956 - Posted: 10.04.2025

By Ellen Barry Around the time of the pandemic, I began to notice something happening in my social circle. A close friend, then in her early 50s, got a diagnosis of attention deficit hyperactivity disorder. She described it as a profound relief, releasing her from years of self-blame — about missed deadlines and lost receipts, but also things that were deeper and more complicated, like her sensitivity to injustice. Listen to this article with reporter commentary Something similar happened to a co-worker, and a cousin in his 30s, and an increasing number of people I met covering mental health. It wasn’t always A.D.H.D. For some of them, the revelation was a diagnosis of autism spectrum disorder: After years of inarticulate unease in social situations, they felt freed by the framework of neurodivergence, and embraced by the community that came along with it. Since then I’ve heard accounts from people who received midlife diagnoses of binge eating disorder, post-traumatic stress disorder, anxiety. Nearly all of them said the diagnosis provided relief. Sometimes it led to an effective treatment. But sometimes, simply identifying the problem — putting a name to it — seemed to help. Lately, it seems as if we never stop talking about the rising rates of chronic diseases, among them autism, A.D.H.D., depression, anxiety and PTSD. Health Secretary Robert F. Kennedy Jr. has pointed to these trends as evidence that Americans are “the sickest people in the world,” and has set about upending whole swaths of our public health system in search of causes, like vaccines or environmental toxins. But much of what we’re seeing is a change in diagnostic practices, as we apply medical labels to ever milder versions of disease. There are many reasons for this: The shame that once accompanied many disorders has lifted. Screening for mental health problems is now common in schools. Social media gives us the tools to diagnose ourselves. And clinicians, in a time of mental health crisis, see an opportunity to treat illnesses early. © 2025 The New York Times Company

Keyword: ADHD; Autism
Link ID: 29955 - Posted: 10.04.2025

Gemma Conroy Whether it’s dancing the tango or playing the guitar, engaging in a creative pastime can slow brain ageing, according to a study of dancers, musicians, artists and video game players from multiple countries. The analysis used brain clocks — models that measure the difference between a person’s chronological age and the age their brain appears to be — to assess whether creative activities help to maintain neurological youth. In brain regions that are most susceptible to ageing, engaging in creative activities increased connections with different areas of the brain. Although experts had ‘younger’ brains than their less-experienced counterparts did, even learning a creative skill from scratch had an anti-ageing effect on the brain. The findings were published on 3 October in Nature Communications1. Song and dance Previous studies suggest that engaging in creative activities can help to keep the brain young and foster emotional well-being. But few have investigated the biological basis of these brain benefits or what drives them, says study co-author Agustín Ibáñez, a neuroscientist at Adolfo Ibáñez University in Santiago, Chile. “There is really poor mechanistic evidence,” he says. How fast are you ageing? Ordinary brain scans reveal the pace To address this gap, Ibáñez and his colleagues created brain clocks using neuroimaging data of brain activity taken from 1,240 participants across 10 countries. These machine-learning models used functional connectivity, a measure of how brain regions work together, to estimate brain age. The researchers then applied their brain clocks to 232 tango dancers, musicians, visual artists and video game players of different ages and experience levels to calculate their ‘brain age gap’ — the difference between their predicted brain age and their actual age. © 2025 Springer Nature Limited

Keyword: Alzheimers; Learning & Memory
Link ID: 29954 - Posted: 10.04.2025

By Keith Schneider Jane Goodall, one of the world’s most revered conservationists, who earned scientific stature and global celebrity by chronicling the distinctive behavior of wild chimpanzees in East Africa — primates that made and used tools, ate meat, held rain dances and engaged in organized warfare — died on Wednesday in Los Angeles. She was 91. Her death, while on a speaking tour, was confirmed by the Jane Goodall Institute, whose U.S. headquarters are in Washington, D.C. When not traveling widely, she lived in Bournemouth, on the south coast of England, in her childhood home. Dr. Goodall was 29 in the summer of 1963 when National Geographic magazine published her 7,500-word, 37-page account of the lives of primates she had observed in the Gombe Stream Chimpanzee Reserve in what is now Tanzania. The National Geographic Society had been financially supporting her field studies there. The article, with photographs by Hugo van Lawick, a Dutch wildlife photographer whom she later married, also described Dr. Goodall’s struggles to overcome disease, predators and frustration as she tried to get close to the chimps, working from a primitive research station along the eastern shore of Lake Tanganyika. On the scientific merits alone, her discoveries about how wild chimpanzees raised their young, established leadership, socialized and communicated broke new ground and attracted immense attention and respect among researchers. Stephen Jay Gould, the evolutionary biologist and science historian, said her work with chimpanzees “represents one of the Western world’s great scientific achievements.” On learning of Dr. Goodall’s documented evidence that humans were not the only creatures capable of making and using tools, Louis Leakey, the paleoanthropologist and Dr. Goodall’s mentor, famously remarked, “Now we must redefine ‘tool,’ redefine ‘man,’ or accept chimpanzees as humans.” © 2025 The New York Times Company

Keyword: Evolution; Animal Communication
Link ID: 29953 - Posted: 10.04.2025

By Yasemin Saplakoglu From Santiago Ramón y Cajal’s hand came branches and whorls, spines and webs. Now-famous drawings by the neuroanatomist in the late 19th and early 20th centuries showed, for the first time, the distinctiveness and diversity of the fundamental building blocks of the mammalian brain that we call neurons. In the century or so since, his successors have painstakingly worked to count, track, identify, label and categorize these cells. There is now a dizzying number of ways to put neurons in buckets, often presented in colorful, complex brain cell atlases. With such catalogs, you might organize neurons based on function by separating motor neurons that help you move from sensory neurons that help you see or number neurons that help you estimate quantities. You might distinguish them based on whether they have long axons or short ones, or whether they’re located in the hippocampus or the olfactory bulb. But the vast majority of neurons, regardless of function, form or location, fall into one of two fundamental categories: excitatory neurons that trigger other neurons to fire and inhibitory neurons that stop others from firing. Maintaining the correct proportion of excitation to inhibition is critical for keeping the brain healthy and harmonious. “Imbalances in either direction can be really catastrophic,” said Mark Cembrowski (opens a new tab), a neuroscientist at the University of British Columbia, or lead to neurological conditions. Too much excitation and the brain can produce epileptic seizures. Too little excitation can be associated with conditions such as autism. Neuroscientists are working to uncover how these two classes of cells work — and specifically, how they interact with a rarer third category of cells that influence their behavior. These insights could eventually help reveal how to restabilize networks that get out of balance, which can even occur as a result of normal aging. © 2025 Simons Foundation

Keyword: Epilepsy; Attention
Link ID: 29952 - Posted: 10.01.2025

Tobi Thomas Health and inequalities correspondent Scientists have linked the impact of living in an unequal society to structural changes in the brains of children – regardless of individual wealth – for the first time. A study of more than 10,000 young people in the US discovered altered brain development in children from wealthy and lower-income families in areas with higher rates of inequality, which were also associated with poorer mental health. The data was gathered from the Adolescent Brain Cognitive Development study and published in the journal Nature Mental Health. Researchers at King’s College London, Harvard University, and the University of York then measured inequality within a particular US state by scoring how evenly income is measured. States with higher levels of inequality included New York, Connecticut, California and Florida, while Utah, Wisconsin, Minnesota and Vermont were more equal. MRI scans were analysed to study the surface area and thickness of regions in the cortex, including those involved in higher cognitive functions including memory, emotion, attention and language. Connections between different regions of the brain were also analysed by the scans, where changes in blood flow indicate brain activity. The research found that children living in areas with higher levels of societal inequality, including socioeconomic imbalances and deprivation for example, were linked to having a reduced surface area of the brain’s cortex, and altered connections between multiple regions of the brain. The findings, the first to reveal the impact societal inequality has on the structures of the brain, also provided evidence that the impacted neurodevelopment might relate to future mental health and cognitive function. Notably, these brain changes in children were seen regardless of their economic background. © 2025 Guardian News & Media Limited

Keyword: Development of the Brain; Learning & Memory
Link ID: 29951 - Posted: 10.01.2025

By Lauren Schneider Bad news for mouse poker players: Their facial movements offer “tells” about decision-making variables that the animals track without always acting on them, according to a study published today in Nature Neuroscience. The findings indicate that “cognition is embodied in some surprising ways,” says study investigator Zachary Mainen, a researcher at the Champalimaud Center for the Unknown. And this motor activity holds promise as a noninvasive bellwether of cognitive patterns. The study builds on mounting evidence that mouse facial expressions are not solely the result of a task’s motor demands and provides a “very clear” illustration of how this movement reflects cognitive processes, says Marieke Schölvinck, a researcher at the Ernst Strüngmann Institute for Neuroscience, who was not involved with the work. For years, mouse facial movements have mostly served as a way for researchers to gauge an animal’s pain levels. Now, however, machine-learning technology has made it possible to analyze this fine motor behavior in greater detail, says Schölvinck, who has investigated how facial expressions reflect inner states in mice and macaques. Evidence that mouse facial expressions correspond to emotional states inspired the new analysis, according to Fanny Cazettes, who conducted the experiments as a postdoctoral researcher in Mainen’s lab. She says she wondered what other ways the “internal, private thoughts of animals” might manifest on their faces. Two variables shape most mouse decisions over different foraging sites, the team found: the number of failures at a site (unrewarded licks from a source of sugar water) and the site’s perceived value (the difference between reward and failure). © 2025 Simons Foundation

Keyword: Emotions; Evolution
Link ID: 29950 - Posted: 10.01.2025

By Katarina Zimmer Few mammals sleep as deeply as the ampurta. When the blonde, rat-like marsupial returns to its burrow after a night of hunting in the Australian desert, it drifts into a slumber known as torpor. While many other mammals quickly burn through their energy reserves in order to maintain stable body temperatures as they fall asleep, ampurtas allow their bodies to cool down to as low as 50 degrees Fahrenheit, saving energy critical to survival in this harsh desert environment. “I’ve held some when they’re in torpor, and they feel like they’ve been in a freezer,” says wildlife ecologist Dympna Cullen of the University of New South Wales in Sydney. Instead of using their own energy to warm up again, upon waking, the animals drag themselves to the mouths of their burrows to soak up the morning sun. Some scientists say this energy-saving trick helped the ampurta—once thought doomed to extinction—to make a comeback during a severe drought. In what they call a “rare and hopeful conservation signal,” the authors document in a new study in Biological Conservation how, during a two-year drought that lasted from 2017 to 2019—one of the region’s harshest droughts on record—the vulnerable marsupials actually significantly extended their range, reclaiming a large chunk of lost habitat. “Everything crashes during a drought,” Cullen says, “so it was quite unexpected that not only were [ampurtas] increasing in abundance but also increasing their area of occupancy by quite a significant amount during a drought.” Like many other Australian mammals, the ampurta—the Aboriginal name for Dasycercus hillieri or the crest-tailed mulgara—once seemed like it might vanish from the Earth. Rabbits brought to Australia by European colonists in the 19th century wreaked ecological havoc on the continent. They ravaged Australia’s vegetation, robbing small native herbivores of cover and food, including some of the ampurta’s prey, such as smaller mammals. The rabbit boom also fed the spread of non-native foxes and cats, which picked off ampurtas and other native wildlife. But in 1996, the Australian government released a rabbit-killing virus to quash rabbit populations, which allowed some native species populations to recover. Ampurtas were downgraded from endangered in the mid-1990s to “vulnerable” in 2013, and eventually to a species of “least concern.” © 2025 NautilusNext Inc.,

Keyword: Sleep; Evolution
Link ID: 29949 - Posted: 10.01.2025

Lynne Peeples From TikTok videos touting mouth tape and weighted blankets, to magazines ranking insomnia-curbing pillows, sleep advice is everywhere. And it’s no wonder. People all over the world complain of insomnia and not getting enough sleep, driving a market for sleep aids worth more than US$100 billion annually. But scientists warn that online hacks and pricey tools aren’t always effective. And failed attempts to remedy the situation could have negative effects, says Andrew McHill, a circadian scientist at Oregon Health & Science University in Portland. “It could discourage people from finding help, and things could get worse,” he says. Instead, researchers point to the lessons coming from circadian science, which over the past five decades has exposed a network of biological clocks throughout the body. This timekeeping machinery ensures that physiological systems are primed to do the right things at the right times — such as defend against pathogens, digest food and sleep. But circadian clocks don’t cycle precisely on their own. To stay in sync and function optimally, they need regular calibration from sunlight, daily routines and other cues. Modern life doesn’t often cooperate. People spend much of their time indoors. They eat late into the night. They shift sleep schedules between workdays and weekends, effectively jet-lagging themselves. The toll is steep. In the short term, circadian disruption and insufficient sleep can reduce cognition, mood and reaction time. In the long term, they can increase risks of infections, diabetes, depression, dementia, cancer, heart disease and premature death. For better sleep and overall health, McHill and other scientists emphasize three basics: contrasting light and dark, consolidating mealtimes and keeping sleep times consistent. “Simply taking a walk outside during the day and reducing our light exposure in the evening could have great effect,” says McHill. © 2025 Springer Nature Limited

Keyword: Sleep
Link ID: 29948 - Posted: 10.01.2025

By Azeen Ghorayshi As a child, Jodie Singer barely spoke. She could repeat words that people said to her or recite the book “Madeline” from beginning to end, but she could not answer yes or no when her mother asked if she wanted juice. Sometimes she hurt herself, compulsively tearing at the skin and hair on the nape of her neck. She threw tantrums, thrashing and refusing to be comforted. When she was almost 3, Jodie was given a diagnosis of autism. Now 28, she still speaks only in short, repetitive phrases and requires round-the-clock care, including help eating, getting dressed and using the toilet. At the time Jodie’s diagnosis was first made, the definition of autism was expanding, as it would continue to do over the next 25 years. Once primarily limited to severely disabled people, autism began to be viewed as a spectrum that included far less impaired children and adults. Along the way, it also became an identity, embraced by college graduates and even by some of the world’s most successful people, like Elon Musk and Bill Gates. That broadening of the diagnosis, autism experts believe, along with the increasing awareness of the disorder, is largely responsible for the steep rise in autism cases that Health Secretary Robert F. Kennedy Jr. has called “an epidemic” and has attributed to theories of causality that mainstream scientists reject, like vaccines and, more recently, Tylenol. And the diagnostic expansion has now become a flashpoint in a long-running debate over how autism should defined, one that has divided parents and activists, ignited social media battles and grown fiercer with Mr. Kennedy’s laser focus on autism. Speaking of autistic children in the spring, Mr. Kennedy said, “These are kids who will never pay taxes, they’ll never hold a job, they’ll never play baseball, they’ll never write a poem, they’ll never go out on a date.” His words drew a swift backlash from many autistic adults, who called his characterization of their lives false and dehumanizing. But Jodie’s mother, Alison Singer, said that, though she disagrees with Mr. Kennedy’s views on the causes of autism, his words about the harsh realities of living with the disorder spoke to families like her own. © 2025 The New York Times Company

Keyword: Autism
Link ID: 29947 - Posted: 10.01.2025

By Bethany Brookshire Even hearing the phrase “Huntington’s disease” will make a room suddenly somber. So the joy that accompanied a recent announcement of results of an experimental gene therapy for the deadly diseases signaled an unfamiliar sense of hope. In a small clinical trial, brain injections of a virus that codes for a tiny segment of RNA may have prevented the formation of the rogue proteins that make Huntington’s so devastating. The early results, announced September 24 in a news release, show that over three years, the treatment slowed Huntington’s progression by up to 75 percent. While not a cure, the treatment could potentially give people living with Huntington’s disease, who might otherwise face early disability and death, the gift of many more years of life. “We’re doing science because it’s interesting and important, but we’re also in this game to save our friends and family from a horrible fate,” says Ed Wild, a neurologist at University College London. “That’s the most meaningful thing, looking my friends in the eye and [saying], ‘We did it.’” Huntington’s disease currently has no effective treatments or cures. It is relatively rare, affecting about 7 out of every 100,000 people, and is the result of mutation in a single gene, appropriately called huntingtin. In the disease, that gene is mutated in only one way, making the front end of the resulting protein grow, says Russell Snell, a geneticist at the University of Auckland in New Zealand who was not involved in the study. This expanded huntingtin is a protein gone toxic. It aggregates in the brain and kills cells largely in brain areas crucial for voluntary movements. Patients end up with increasing involuntary movements, stiffness, difficulties speaking and swallowing and cognitive decline. Huntington’s is genetically dominant — it takes only one copy of the defective gene to cause it — so a patient’s offspring have a 50 percent chance of inheriting the disease. Wild and his colleagues, working with the Dutch pharmaceutical company uniQure, used microRNA — tiny segments of RNA that can trigger machinery to break down huntingtin RNA before it gets made into protein. Some other trials have tried simply injecting some of these RNAs, but have not succeeded, possibly because they were injected into the cerebrospinal fluid and couldn’t infiltrate the right areas of the brain. This time, the scientists injected them directly into the brain, packaged inside a well-studied viral vector. The virus would “infect” neurons in the brain with the RNA, and “it basically reprograms the neuron to become a factory for a molecule that tells it not to make huntingtin protein,” Wild says. © Society for Science & the Public 2000–2025.

Keyword: Huntingtons; Genes & Behavior
Link ID: 29946 - Posted: 09.27.2025

Hannah Devlin Science correspondent Huntington’s disease, a devastating degenerative illness that runs in families, has been treated successfully for the first time in a breakthrough gene therapy trial. The disease, caused by a single gene defect, steadily kills brain cells leading to dementia, paralysis and ultimately death. Those who have a parent with Huntington’s have a 50% chance of developing the disease, which until now has been incurable. The gene therapy slowed the progress of the disease by 75% in patients after three years. Prof Sarah Tabrizi, the director of University College London’s Huntington’s disease centre, who led the trial, said: “We now have a treatment for one of the world’s more terrible diseases. This is absolutely huge. I’m really overjoyed.” The drug, which inactivates the mutant protein that causes Huntington’s, is delivered to the brain in a single shot during a 12- to 20-hour surgical procedure, meaning that it will be expensive. The breakthrough is sending ripples of hope through the Huntington’s community, many of whom have witnessed the brutal impact of the disease on family members. The first symptoms, which typically appear when the affected person is in their 30s or 40s, include mood swings, anger and depression. Later patients develop uncontrolled jerky movements, dementia and ultimately paralysis, with some people dying within a decade of diagnosis. With treatment, people would be able to work and live independently for significantly longer, Tabrizi said, and the dramatic impact of the therapy raises the possibility that it could prevent symptoms occurring if given at an earlier stage. © 2025 Guardian News & Media Limited

Keyword: Huntingtons; Genes & Behavior
Link ID: 29945 - Posted: 09.27.2025

Heidi Ledford After a mouse received treatment to eliminate immune cells called microglia, it was injected with human progenitor cells that developed into human immune cells (green, pink and blue) in the animal’s brain.Credit: M. M.-D. Madler et al./Nature A fresh supply of the immune cells that keep the brain tidy might one day help to treat a host of conditions, from ultra-rare genetic disorders to more familiar scourges, such as Alzheimer’s disease. In the past few months, a spate of new studies have highlighted the potential of a technique called microglia replacement and explored ways to make it safer and more effective. “This approach is very promising,” says Pasqualina Colella, who studies gene and cell therapy at Stanford University School of Medicine in California. “But the caveat is the toxicity of the procedure.” Microglia are immune cells that patrol the brain, gobbling up foreign invaders, damaged cells and harmful substances. They can help to protect neurons — cells that transmit and receive messages to and from other tissues — during seizures and strokes, and they prune unneeded connections between neurons during normal brain development. “Microglia do a lot of important things,” says Chris Bennett, a psychiatrist who studies microglia at the Children’s Hospital of Philadelphia in Pennsylvania. “So, it’s not surprising that they are involved in the pathogenesis of many diseases.” Those diseases include a suite of rare disorders caused by genetic mutations that directly affect microglia. Malfunctioning microglia have also been implicated in more familiar conditions with complex causes, such as Alzheimer’s disease and Parkinson’s disease, as well as ageing, says Bo Peng, a neuroscientist at Fudan University in Shanghai, China. © 2025 Springer Nature Limited

Keyword: Development of the Brain; Glia
Link ID: 29944 - Posted: 09.27.2025

By Calli McMurray The authors behind a contentious 2022 Science paper that purported to measure neuronal activity using functional MRI (fMRI) retracted the work today. The retraction marks the end of the road for the method, called “direct imaging of neuronal activity,” or DIANA, says Noam Shemesh, principal investigator at the Champalimaud Centre for the Unknown, who was not involved in the now-retracted work. But many neuroimaging researchers still hope to one day use fMRI to capture neuronal activity. “MRI is such a rich modality. It has such rich physics, and not all of it has been exploited in the functional sense,” Shemesh says. DIANA collected fMRI data in a way that enabled the researchers to measure signal changes on the order of tens of milliseconds. The team, led by Jang-Yeon Park at Sungkyunkwan University, captured a signal peak in the somatosensory cortex of mice 25 milliseconds after shocking their whisker pads. Despite an initial flurry of excitement from the field, other labs could not replicate the results. As a result, the paper received an editorial expression of concern in August 2023 because “the methods described in the paper are inadequate to allow reproduction of the results and … the results may have been biased by subjective data selection,” the notice states. Following the editorial expression of concern, “we reanalyzed the data. Unfortunately, the additional results revealed unexpected MR signal characteristics and did not robustly support the original conclusions. We are therefore retracting the paper,” the retraction notice states. Science did not have any additional comment beyond what is outlined in the expression of concern and retraction notice. © 2025 Simons Foundation

Keyword: Brain imaging
Link ID: 29943 - Posted: 09.27.2025