Rare Childhood Bleeding Disorder Traced to Two New ADAMTS13 Gene Variants
A Chinese pediatric case series has identified two previously unreported ADAMTS13 gene variants in children with hereditary thrombotic thrombocytopenic purpura, ...
Tag: genetic diagnosis
Misfolded Proteins May Explain a Hidden Share of Inherited Deafness
A large-scale computational study finds that protein misfolding may underlie a substantial share of hereditary hearing loss, reclassifying tens of ...
Hidden Gene Deletions Explain Severe Friedreich Ataxia Cases Misdiagnosed by Standard Testing
Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a ...
Rare Genetic Syndrome Unmasked by Sudden Kidney Failure in Young Woman
A case report from Lahore describes a 27-year-old woman whose sudden kidney failure revealed both advanced undiagnosed chronic kidney disease ...
Long-Read Sequencing Steps Into the Clinic for Spinal Muscular Atrophy Diagnosis
A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...
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 ...
Hidden Genetic Neuropathies Revealed in Older Adults by Decade of DNA Testing
A ten-year French study found that nearly 9 percent of patients genetically tested for neuropathy after age 50 had confirmed ...
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 ...
Novel ALAS2 Mutation Unmasked as Hidden Cause of Severe Macrocytic Anemia in Teenage Girl
Whole exome sequencing of a teenage girl with treatment-refractory macrocytic anemia revealed a novel frameshift mutation in ALAS2, confirming X-linked ...
Rare Immune Disorder Masqueraded as MOGAD in a Young Girl, Case Report Reveals
A case report in Annals of Clinical and Translational Neurology describes a girl whose relapsing neuroinflammatory disease, long attributed to ...
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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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