Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency
A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic ...
Tag: newborn screening
From First Breath to Lifelong Care: How Newborn Screening Is Being Rebuilt Around Every Child
The Society for Pediatric Research's 2026 Mary Ellen Avery Award recognizes Wendy Chung's work building population-scale newborn screening systems, from ...
Hidden Genetic Burden: Three Rare Diseases Shape Child Health in Nunavut
A genomic study of nearly 3,000 Nunavut newborns reveals that three autosomal recessive conditions, including congenital sucrase-isomaltase deficiency at one ...
Brain Bleeds Strike About One in Fifty Newborns with Hemophilia, Meta-Analysis Finds
A new meta-analysis of thirteen studies finds that about 2.1 percent of newborns with hemophilia suffer an intracranial hemorrhage in ...
Hidden Metabolic Diseases Found in Unexplained Child Deaths Through Blood Spot and DNA Analysis
A retrospective Chinese cohort study combined tandem mass spectrometry of archived newborn blood spots with whole-exome sequencing to uncover previously ...
AI Genomics Pioneer from Hong Kong Wins 2026 APEC ASPIRE Prize
Professor Ruibang Luo of The University of Hong Kong has won the 2026 APEC ASPIRE Prize for his AI-driven genomic ...
Gene Therapy Now Leads Spinal Muscular Atrophy Treatment as Real-World Sequencing Patterns Emerge
A large US claims analysis shows that after widespread newborn screening, gene replacement therapy has become the dominant first treatment ...
Carbon Monoxide Breath Test Outperforms Blood Test in Detecting Newborn Hemolysis, Commentary Argues
A new correspondence in the Journal of Perinatology argues that end-tidal carbon monoxide testing detects newborn hemolysis far more reliably ...
Rare but Treatable: The Brain Diseases Radiologists Cannot Afford to Miss
A new review in Pediatric Radiology maps the MRI and MR spectroscopy patterns of treatable neurogenetic diseases, urging radiologists to ...
AI Reads Newborn Faces to Spot Prader-Willi Syndrome Earlier Than Ever
Researchers in Shanghai trained a machine learning model on children's facial features that successfully identified Prader-Willi syndrome in newborns with ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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