Gene Therapy for Deafness - Cocaine Commander - Optical Illusions - Milt Diamond Obit
Breedlove, S
UK toddler has hearing restored in world first gene therapy trial
Andrew Gregory Health editor
A British toddler has had her hearing restored after becoming the first person in the world to take part in a pioneering gene therapy trial, in a development that doctors say marks a new era in treating deafness.
Opal Sandy was born unable to hear anything due to auditory neuropathy, a condition that disrupts nerve impulses travelling from the inner ear to the brain and can be caused by a faulty gene.
But after receiving an infusion containing a working copy of the gene during groundbreaking surgery that took just 16 minutes, the 18-month-old can hear almost perfectly and enjoys playing with toy drums.
Her parents were left “gobsmacked” when they realised she could hear for the first time after the treatment. “I couldn’t really believe it,” Opal’s mother, Jo Sandy, said. “It was … bonkers.”
The girl, from Oxfordshire, was treated at Addenbrooke’s hospital, part of Cambridge university hospitals NHS foundation trust, which is running the Chord trial. More deaf children from the UK, Spain and the US are being recruited to the trial and will all be followed up for five years.
Prof Manohar Bance, an ear surgeon at the trust and chief investigator for the trial, said the initial results were “better than I hoped or expected” and could cure patients with this type of deafness.
“We have results from [Opal] which are very spectacular – so close to normal hearing restoration. So we do hope it could be a potential cure.”
He added: “There’s been so much work, decades of work … to finally see something that actually worked in humans …. It was quite spectacular and a bit awe-inspiring really. It felt very special.”
Auditory neuropathy can be caused by a fault in the OTOF gene, which makes a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve. To overcome the fault, the new therapy from biotech firm Regeneron sends a working copy of the gene to the ear.
© 2024 Guardian News & Media Limited
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Cocaine, morphine commandeer neurons normally activated by food, water in mice
By Lauren Schenkman
Repeated exposure to cocaine and morphine subverts the reward-system neurons that underlie hunger and thirst, according to a new study in mice.
“The nerve cells get scrambled at the neural level in terms of their responses to food and water,” says lead investigator Eric Nestler, professor of neuroscience at the Icahn School of Medicine at Mount Sinai. “So the ability of the brain, in a way, to compute that the individual is hungry or thirsty becomes lost.”
In addiction research, there has been a “long-appreciated hypothesis that drugs of abuse hijack the natural reward circuitry of the brain,” says Marcelo Wood, professor of neurobiology and behavior at the University of California, Irvine, who was not involved in the new work. “It’s something that everyone talks about and writes about,” he says, but the exact physiology behind it “remained rather unknown.”
In the new work, mice injected daily with morphine or cocaine for up to five days showed progressively increased activity in neurons in the nucleus accumbens that also respond to food and water, according to measures of FOS protein, a marker of neuronal activation. The drugs also elicited a stronger response than the natural rewards, two-photon calcium images showed, confirming what scientists have thought based on behavioral evidence, Nestler says.
These alterations ultimately curbed the animals’ urge for sustenance, the study also shows: The mice ate less food and drank less water than mice given a saline solution, and lost weight—even after withdrawing from the drugs for three days.
That confirms the hijacking hypothesis “pretty convincingly,” Wood says. “I thought that was brilliant.”
© 2024 Simons Foundation
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Studying Mouse Reactions to an Optical Illusion Can Teach Us about Consciousness
By Emily Cooke & LiveScience
Optical illusions play on the brain's biases, tricking it into perceiving images differently than how they really are. And now, in mice, scientists have harnessed an optical illusion to reveal hidden insights into how the brain processes visual information.
The research focused on the neon-color-spreading illusion, which incorporates patterns of thin lines on a solid background. Parts of these lines are a different color — such as lime green, in the example above — and the brain perceives these lines as part of a solid shape with a distinct border — a circle, in this case. The closed shape also appears brighter than the lines surrounding it.
It's well established that this illusion causes the human brain to falsely fill in and perceive a nonexistent outline and brightness — but there's been ongoing debate about what's going on in the brain when it happens. Now, for the first time, scientists have demonstrated that the illusion works on mice, and this allowed them to peer into the rodents' brains to see what's going on.
Specifically, they zoomed in on part of the brain called the visual cortex. When light hits our eyes, electrical signals are sent via nerves to the visual cortex. This region processes that visual data and sends it on to other areas of the brain, allowing us to perceive the world around us.
The visual cortex is made of six layers of neurons that are progressively numbered V1, V2, V3 and so on. Each layer is responsible for processing different features of images that hit the eyes, with V1 neurons handling the first and most basic layer of data, while the other layers belong to the "higher visual areas." These neurons are responsible for more complex visual processing than V1 neurons.
© 2024 SCIENTIFIC AMERICAN,
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https://www.nytimes.com/2024/05/08/health/milton-diamond-dead.html
Milton Diamond, Sexologist and Advocate for Intersex Babies, Dies at 90
By Clay Risen
Academic conferences are usually staid affairs, but the 1973 International Symposium on Gender Identity, held in Dubrovnik, Yugoslavia, was an exception. Everything was peaceful until a psychologist named John Money stood and yelled, “Mickey Diamond, I hate your guts!”
Milton Diamond, a sexologist who had gone by Mickey since childhood, was sitting on the other side of the room. Dr. Money and Dr. Diamond were bitter rivals: Dr. Money, a nationally recognized researcher at Johns Hopkins University, had long argued that sexual and gender identity are neutral at birth and shaped primarily by an infant’s surroundings.
Dr. Diamond, who was just beginning his career at the University of Hawaii, strongly disagreed, and had said so repeatedly — including in a widely read 1965 critique of Dr. Money’s work. He took particular issue with Dr. Money’s recommendation that intersex infants have surgery to “correct” their genitals.
Dr. Money rushed over to Dr. Diamond, getting in his face, furiously insisting he was right.
Dr. Diamond only replied, “The data is not there.”
At one point, eyewitnesses reported that Dr. Money slugged Dr. Diamond, though Dr. Diamond later said he didn’t remember it.
The incident, reported by the journalist John Colapinto in Rolling Stone magazine and in a subsequent book, “As Nature Made Him: The Boy Who Was Raised as a Girl” (2000), was especially heated because of a recent announcement by Dr. Money.
He had been working with a child who in 1965, after his penis was irreparably damaged during a circumcision, had undergone further surgery to remove his male genitalia. The child was then raised as a girl, taking on all the conventional physical and emotional characteristics of a female adolescent — happily, Dr. Money said.
Though the child was not born intersex, Dr. Money claimed that the case proved that gender and sexual identity were malleable and that intersex children should indeed receive surgery.
© 2024 The New York Times Company
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