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Children’s Hospital of Philadelphia researchers identify novel gene associated with neurodevelopmental disorders and epilepsy

A study published in the American Journal of Human Genetics identified a novel gene, BSN, linked to neurodevelopmental disorders and epilepsy. The research used large biorepositories and computational techniques to analyze data from patients with variants of the BSN gene. Key findings include the common symptoms of epilepsy, febrile se...

SourceChildren's Hospital of Philadelphia·JournalAmerican Journal of Human Genetics·TypeObservational study·DateJun 18, 2025

Children’s Hospital of Philadelphia researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants

Children's Hospital of Philadelphia researchers found that rare instances of SYNGAP1-related disorders can be caused by inherited genetic variants, which could help guide clinical care and influence family planning decisions. The study identified eight individuals with inherited protein-truncating variants in the SYNGAP1 gene.

SourceChildren's Hospital of Philadelphia·JournalEpilepsia·TypeObservational study·DateJun 18, 2025

UC San Diego researchers find evidence of accelerated aging in children with multiple sclerosis

Researchers discovered that children with MS show signs of accelerated biological aging, even in their teenage years, which may lead to new treatment possibilities beyond immunosuppression. The study found that youth with MS had evidence of accelerated epigenetic age, a measurement of DNA chemical modifications associated with aging.

Firearm laws and pediatric mortality in the US

A new study reveals that states with permissive firearm laws have significantly higher rates of pediatric mortality due to gun accidents. The research highlights the need for stricter regulations to prevent such tragedies and determine which laws are most effective in reducing harm.

SourceJAMA Network·JournalJAMA Pediatrics·DateJun 9, 2025

Children’s Hospital of Philadelphia researchers show stem cell transplant offers potentially curative therapy in pediatric patients with monogenic inflammatory bowel disease

A retrospective study found that allogeneic hematopoietic stem cell transplant is a highly effective method for treating children with monogenic inflammatory bowel disease, resulting in sustained medication-free remission in over 90% of patients. The treatment also led to significant improvements in growth, reduced hospital visits, and...

SourceChildren's Hospital of Philadelphia·JournalClinical Gastroenterology and Hepatology·TypeObservational study·DateMay 21, 2025

World's first patient treated with personalized CRISPR gene editing therapy at Children’s Hospital of Philadelphia

A child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy, showcasing the power of tailored gene editing to treat patients. The infant is now growing well and thriving after receiving three doses of the therapy with no serious side effects.

SourceChildren's Hospital of Philadelphia·JournalNew England Journal of Medicine·TypeCase study·DateMay 15, 2025

Models predict severity of pneumonia in kids to help guide treatment

Researchers developed pragmatic models that accurately distinguish between mild, moderate and severe pneumonia in children based on evidence from 73 EDs across 14 countries. The new predictive tools are intended to complement clinician judgement in deciding whether a child’s pneumonia warrants hospitalization or intensive care.

SourceAnn & Robert H. Lurie Children's Hospital of Chicago·JournalThe Lancet Child & Adolescent Health·DateMay 14, 2025

Prenatal cannabis use and neonatal outcomes

A recent study published in JAMA Pediatrics found that prenatal cannabis use is associated with an increased risk of preterm birth and low birth weight. The research also suggests a potential link between cannabis use during pregnancy and smaller-than-average newborns.

SourceJAMA Network·JournalJAMA Pediatrics·DateMay 5, 2025

Nicotine pouch and e-cigarette use and co-use among U.S. youths

A cross-sectional study finds a doubling in nicotine pouch past-30-day use and an increase in pouch plus e-cigarette dual use, leading to decreased exclusive e-cigarette use among US 10th and 12th graders. Prioritizing surveillance, regulation, and prevention strategies is crucial for addressing pediatric nicotine pouch use.

SourceJAMA Network·JournalJAMA Network Open·DateApr 30, 2025

University of Houston BRAIN, TIRR Memorial Hermann develop first wearable pediatric soft exoskeleton made of smart materials

The MyoStep project represents a significant advancement in pediatric mobility aids for children with cerebral palsy, addressing motor impairments that restrict participation in physical activities. The soft power suit provides a lightweight, discreet solution tailored to fit seamlessly into the lives of children and their families.

SourceUniversity of Houston·JournalIEEE Electron Devices Magazine·DateApr 29, 2025

Pediatric investigation review discusses the challenges, innovations, and future directions in dengue vaccine development

The review highlights the limitations of existing dengue vaccines, such as CYD-TDV and TAK-003, and the urgent need for more effective vaccines to protect millions of people. The Butantan-DV vaccine has shown promise with its single-dose regimen, but its efficacy against DENV-3 and DENV-4 is still unclear.

SourcePediatric Investigation·JournalPediatric Investigation·TypeLiterature review·DateApr 29, 2025