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New research paves the way to a better understanding of telomeres

Posted on by | Research
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Much the way the caps on the ends of a shoelace prevent it from fraying, telomeres — regions of repetitive DNA sequences and a protein structure — protect the tips of chromosomes from damage. Every time our cells divide, telomeres lose a bit of that DNA. Eventually, telomeres become so short that they can no ... Read More
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Choosing fetoscopic spina bifida care for Hadley

Posted on by | Patient Stories
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When Katie and Derek learned in 2024 that their daughter Hadley would be born with spina bifida, they quickly set out to find the best care available. And as so often happens in parenting, their most important decision was to trust their instincts. Doing so led them to be among the first in New England ... Read More
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AI-designed proteins open doors to new immunotherapies

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Artificial intelligence (AI) is increasingly helping drive advances in science and medicine — including cellular signaling. In a recent study, published in Cell, a team of Boston Children’s researchers used groundbreaking AI-based protein design technologies to generate large numbers of immune cells — specifically T cells — in the laboratory and to enhance immune responses ... Read More
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Advancing global health: Using AI to detect heart disease in children

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In many low- and middle-income countries, pediatric cardiologists can’t help children with congenital heart conditions because of a critical hurdle. They don’t have easy access to advanced diagnostic technology. Key takeaways Children in many countries are not receiving proper heart care because they’re not being diagnosed. AI-powered electrocardiogram (AI-ECG) models could give cardiologists in these ... Read More
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Study highlights the severity of acute necrotizing encephalopathy in kids with the flu

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For most children, influenza (flu) usually means unpleasant symptoms like a fever, sore throat, and achy muscles. But for a small subset of kids, the flu can trigger a rare but serious complication called influenza-associated acute necrotizing encephalopathy (ANE). This form of brain inflammation typically occurs in response to a virus — such as those ... Read More
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A world of difference: Why Noah traveled from Florida for multiple sclerosis care

Posted on by | Patient Stories
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When Noah started having headaches four years ago, his mom, Jonda, initially wondered if it was a classic kid ruse. “I thought maybe he was trying to get out of doing chores,” she remembers. But when the headaches got worse and even his eyes hurt, she brought him to their local emergency room in Florida. ... Read More
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Hope in sight for autosomal dominant optic atrophy (ADOA)

Posted on by | Research, Therapeutics/Diagnostics/Devices
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Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test. But behind these subtle signs lies progressive, irreversible vision loss in both eyes caused by deterioration of ... Read More
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The dopamine reset: Restoring what’s missing in AADC deficiency

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In March 2023, a young girl came to Boston Children’s Hospital unable to hold up her head — one striking symptom of aromatic L-amino acid decarboxylase (AADC) deficiency. This rare neurological disorder prevents the brain from producing dopamine and serotonin — essential chemicals for controlling movement, mood, and basic body functions. Without them, children experience ... Read More
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An unbreakable bond: Brothers turn medical complexities into superpowers

Posted on by | Patient Stories
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“Look! Is that one JetBlue? I think that one’s Delta!” Running through the grass, climbing on the jungle gym, and watching planes take off and land at nearby Logan Airport: Castle Island in South Boston is Patrick and Teddy’s happy place. The brothers, ages 4 and 3 respectively, are almost as obsessed with airplanes as ... Read More
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New research sheds light on the genetic roots of amblyopia

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For decades, amblyopia has been considered a disorder primarily caused by abnormal visual experiences early in life. But new research from Mary Whitman, MD, PhD, pediatric ophthalmologist in the Department of Ophthalmology at Boston Children’s Hospital, and her colleagues suggests the story is more complicated. “There may be underlying neurodevelopmental differences in children with amblyopia ... Read More
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