Child Health
Study Identifies Cause for Mysterious Cases of Epilepsy in Children
International collaboration uncovers mosaicism, a condition in which cells within the same person have a different genetic makeup, as a cause for pediatric seizures
By studying resectioned brain tissue for mutations, researchers have identified genetic factors that may cause malformations of cortical development, a form of pediatric epilepsy.
« Study Identifies Cause for Mysterious Cases of Epilepsy in Children
Newswise — Epilepsy is present in 4% of the population, and is among the most common brain disorders in children. Modern medicine can prevent most seizure recurrences, but approximately 20% of patients do not respond to treatment.
In these cases, the reason may originate in patches of damaged or abnormal brain tissue known as “malformations of cortical development” (MCD), which results in a diverse group of neurodevelopment disorders. Surgical resection or removal of the patch can cure the seizures, and epilepsy surgery to improve neurological outcomes is now a key part of the modern medical armamentarium, but what causes the patches has largely remained a mystery.
Writing in the January 12, 2023 issue of Nature Genetics, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine, collaborating with an international consortium of more than 20 children’s hospitals worldwide, report a significant breakthrough in understanding the genetic causes of MCD.
Members of the Focal Cortical Dysplasia Neurogenetics Consortium investigated 283 brain resections from children across a range of MCD types, with parental consent, looking for potential genetic causes. Because most brain tissue in these children is normal, the scientists focused on mutations present in a small subset of brain cells, a phenomenon termed genetic somatic mosaicism.
“This was a decade-long journey, bringing specialists together from around the world, to recruit patients for this study,” said senior study author Joseph Gleeson, MD, Rady Professor of Neuroscience at UC San Diego School of Medicine and director of neuroscience research at the Rady Children’s Institute for Genomic Medicine. “Until recently, most hospitals did not study resected brain tissue for genetic causes. The consortium organized a biobank to store tissue for high-throughput mosaicism analysis.”
Previous research by Gleeson and colleagues had shown that genetic somatic mosaicism in the mTOR signaling pathway was a contributing factor, said co-first author Changuk Chung, PhD, a postdoctoral fellow in the Gleeson lab.
“But most patients remain undiagnosed, which hinders treatment. We tested for hidden mutations, detectable only by greatly expanding the cohort size and improving methods so that the results could be meaningful. We collaborated to solve technical and logistical bottlenecks. The pieces fell into place, but it took 10 years.”
The team conducted intensive genomic discovery using state-of-art somatic mosaic algorithms developed by the National Institutes of Health-sponsored Brain Somatic Mosaicism Network, of which UC San Diego is a member.
“We tried our best to detect mutations in as little as 1 percent of cells,” said co-first author Xiaoxu Yang, PhD, a postdoctoral scholar in Gleeson’s lab. “Initially we failed. To solve these problems, we needed to develop novel artificial intelligence methods to overcome barriers in sensitivity and specificity.”
The team ultimately identified 69 different genes carrying somatic brain mutations, the majority of which have never previously reported in MCD.
“We can draw parallels with the cancer field because these mutations disrupt cellular function and need to be resected,” said co-first author Chung. “However, unlike cancer cells, brain cells mostly do not divide so these cells misbehave by stimulating epileptic seizures. The question that arose was whether the newly found gene mutations were sufficient to cause MCD disease.”
Gleeson said the scientists found that the genes converged on calcium signaling, gene expression and synaptic functions, and noted that when the mutations were introduced into a mouse model, abnormalities similar to those seen in patients were observed. The study authors suggest the findings could be used to improve diagnosis and develop cures for MCD disease.
“The MCD genes in patient brains have demonstrated critical roles during cortical development,” said Gleeson. “These findings could lead to new molecular classifications for MCD, and ultimately to personalized therapies for epilepsy.”
For a complete list of co-authors, see full study.
Funding for this research came, in part, from the National Institutes of Health (grants NIMH U01MH108898 and R01MH124890, NIA R21AG070462, NINDS R01NS083823), the San Diego Supercomputer Center and UC San Diego Institute of Genomic Medicine.
Source: University of California San Diego
Child Health
Pediatric Cancer Goes Beyond a Victory Bell: How Research and Innovation Improve Survivorship Rates
(Feature Impact) For every tear-jerking video found online of a child ringing a bell that signifies a cancer journey victory, there are dozens, if not more, people working behind the scenes. From leading minds in cancer research to doctors, nurses and support staff, a vast network of people and decades of medical advancements make those moments possible.
In fact, in the last 10 years, the FDA approved 10 new immunotherapies and 20 molecularly targeted therapies to treat pediatric cancers, according to the American Association for Cancer Research. Those breakthroughs – and the children they impact – come with a cost, which is why Hyundai Hope on Wheels has served as a pioneer in increasing survival rates by investing $303 million in pediatric cancer research over nearly three decades.
Those funds have supported more than 1,600 grants to 210 institutions, leading to new insights into cancer biology, clinical trials and new drug development while bringing hope at all stages of a child’s cancer journey.
However, there remains work to be accomplished. According to a survey conducted by Atomik Research on behalf of Hyundai Hope on Wheels, 46% of U.S. adults believe that a child ringing a hospital bell after cancer treatment signifies the child is cancer-free and their medical journey is largely over. The reality is more nuanced than that. In fact, more than one-third of respondents said they’re not familiar with the term cancer survivorship or they have heard the term but don’t fully understand what it means.
Many health care organizations define survivorship as beginning at the time of diagnosis and continuing through treatment and beyond. According to the American Association for Cancer Research, children who survive cancer face several long-term physical and psycho-social challenges due to their cancer and treatment, including planned surgeries, additional rounds of radiation or other forms of medical treatment to address common physical challenges stemming from chemotherapy.
Survival rates continue increasing with scientific and technological breakthroughs, up from 75% to 85% in nearly three decades, representing roughly 40,000 more children surviving their diagnoses. More than 3 in 4 U.S. adults are encouraged by that progress.
For survivors, treatment is just the beginning. Research, follow-up care and long-term funding determine what comes next, and every grant funded and every survivorship program backed means more children reaching adulthood.
According to the survey, more than 80% of adults said they’re more likely to support organizations that fund survivorship services, creating opportunities to fund crucial research and support for children facing pediatric cancer. Collaboration among leading minds, made possible by funding from organizations like Hyundai Hope on Wheels, has led to the development of comprehensive approaches to help children thrive during life after cancer, including enhanced medical records, AI integration, socioemotional support and combatting long-term side effects.
Find more information and ways you can join the fight by visiting HyundaiHopeOnWheels.org.
Photo courtesy of Shutterstock
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Child Health
A child rings the cancer bell. Here’s what that moment doesn’t show
Cancer Bell: A child who’s been treated for cancer walks down the hall of a medical facility, nurses and doctors smiling at them from all corners of the room. The child rings a bell, and everyone cheers as the kid hugs their loved ones. These heartfelt videos appear regularly across social media. What helps make each of those moments possible is decades of research and innovation. For every bell-ringing child whose video goes viral online, a longer health journey awaits.
A child rings the cancer bell. Here’s what that moment doesn’t show
(Sheeka Sanahon) A child who’s been treated for cancer walks down the hall of a medical facility, nurses and doctors smiling at them from all corners of the room. The child rings a bell, and everyone cheers as the kid hugs their loved ones. These heartfelt videos appear regularly across social media. What helps make each of those moments possible is decades of research and innovation. In the last 10 years, the Food and Drug Administration (FDA) approved 10 new immunotherapies and 20 molecularly targeted therapies to treat pediatric cancers, according to the American Association for Cancer Research.
For every bell-ringing child whose video goes viral online, a longer health journey awaits. Hyundai Hope on Wheels, which has funded pediatric cancer research for nearly three decades, commissioned a survey to understand how much Americans know about that journey.
As September marks Childhood Cancer Awareness Month, what that journey actually looks like is worth understanding. According to the survey, 46% of U.S. adults believe that a child ringing a hospital bell after cancer treatment signifies the child is cancer-free and their medical journey is largely over. The reality is more nuanced than that.
When cancer survivorship begins
Many health care organizations define survivorship as beginning at the time of diagnosis and continuing through treatment and beyond. Understanding survivorship this way helps recognize that a child’s cancer journey is about more than reaching the end of treatment. It also includes managing long-term physical, emotional and medical needs that may continue for years to come.
More than a third of U.S. adults say they’re not familiar with the term cancer survivorship or they have heard theterm but don’t fully understand what it means.
According to the American Association for Cancer Research, children who survive cancer face several long-term physical and psycho-social challenges due to their cancer and treatment. Children could face planned surgeries, additional rounds of radiation, or other forms of medical treatment to address common physical challenges stemming from chemotherapy. Every child’s medical treatment plan is different based on their specific needs, but one thing is clear: Pediatric cancer survivors need ongoing support as they navigate long-term health challenges.
Supporting children to live long, full lives
More than 3 in 4 U.S. adults are encouraged by the progress in pediatric cancer, up 5 points from last year. There’s good reason to be hopeful, too. According to the American Cancer Society, the survival rate among pediatric cancer patients has increased from 75% to 85% in nearly three decades, representing 40,000 more children surviving their cancer diagnosis.
Survival rates continue to increase thanks to breakthrough science and technology, and higher standards of care. Pediatric cancer research has led to new insights into cancer biology, clinical trials, and new drug development.
More than 8 in 10 adults say they’re more likely to support organizations that fund survivorship services, which creates more opportunities to fund crucial research and support for children facing pediatric cancer.
Methodology
Hyundai Hope on Wheels commissioned Atomik Research to conduct an online survey of 1,005 adults throughout the United States. The margin of error is +/- 3 percentage points with a confidence level of 95%. Fieldwork took place March 19-26, 2026. Atomik Research, part of 4media group, is a creative market research agency.
Photo courtesy of Shutterstock
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Family
The back-to-school haircut is more than hair: Survey finds 94% of parents say their son’s appearance affects their confidence
(Sheeka Sanahon) Parents spend years styling their children, picking out just the right outfits for special occasions, choosing a haircut that suits their sweet little faces, and doing their best to keep up with how quickly they outgrow their shoes. Just as parents begin to master all the moving parts, a new variable gets thrown into the equation: the opinions of the child whose every style decision they once made.
According to survey data from Sport Clips Haircuts, a sports-themed haircutting franchise specializing in haircuts for men and boys, 84% of parents say that by the time their son reaches middle or high school, he cares significantly or somewhat more about his appearance. According to Psychology Today, physical appearance is important for adolescent children as a means to express identity and to fit in with the norms of their peers. What has changed is the amount of pressure on today’s generation of children to present themselves well; 71% of parents surveyed by Sport Clips say boys today face more pressure to look put together going into a new school year than they remember from their own school years.
Preteen and Teen Boys are Developing Their Own Sense of Style
The surveyed parents report that in the coming days and weeks before the new school year begins, more than a third of their preteen and teen boys ask for a back-to-school haircut. Another 22% of parents say both they and their boys bring it up around the same time. That’s more than half of boys already thinking about how they’ll show up on the first day.
If you thought mom and dad’s opinions mattered regarding the type of haircut they want, think again. More than half of boys ages 11 to 17 know exactly what haircut they want to get before the school year begins. Parents report that many of them are inspired by celebrities, athletes or people they follow online.
The Confidence Connection
As children get older and express more desire for choosing their style, giving them the choice to pick what’s right for them can be a great opportunity to boost their confidence. Ninety-five percent of parents say there is a connection between how confident their son feels about his appearance and how he shows up at school, in sports and social activities. Young boys and their parents are thinking about more than just the haircut. Finding clothes that their son feels good in, as well as talking through what he’s most excited and most nervous about for the new school year, are all part of the preparation.
The Back-to-School Checklist
This checklist creates an important set of traditions to get the school year started off on the right foot. While 71% of parents say getting their son a fresh haircut or new hairstyle has become a reliable part of their back-to-school routine, 20% notice their child shift back into school mode when they pick out their first day outfit. For 19%, it’s when he packs or organizes his bag.
The Styles Middle School and High School Boys Are Asking For
So what styles are boys most likely to ask for to start this school year? According to the survey data, 30% of boys want a tapered fade like the haircut U.S. goalkeeper Matt Freese wore during the 2026 World Cup. Nearly a quarter (24%) of respondents said their child wants a classic cut, like the kind of style YouTuber Caylus Cunningham tends to wear. Only 10% of boys are requesting a longer or shaggy style, like actor Jacob Elordi, and even fewer are looking for fringe bangs, the broccoli cut (which is short on the sides and curly on top) or a buzz cut.
A few parents aren’t sure what kind of look their child is going for this school year. Eight percent say they’re not even sure what to call the hairstyle preferred by the boys in their lives.
Methodology: Sport Clips Haircuts commissioned Atomik Research to conduct an online survey of 1,000 adults throughout the United States. The sample consists of U.S. parents of boys aged 11 to 17. The margin of error is +/- 3 percentage points with a confidence level of 95 percent. Fieldwork took place between July 9 and July 15, 2026. Atomik Research, part of 4media group, is a creative market research agency.
Photo courtesy of Shutterstock (children on school bus)
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