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 ...
Tag: rare disease
Rare ERBB2 Variants Expand the Genetic Picture of a Multisystem Congenital Disorder
A Lithuanian case report describes a boy with novel compound heterozygous ERBB2 variants, only the second family ever documented with ...
DNA Methylation Episignatures Emerge as a Powerful New Diagnostic Layer for Rare Disease
A new review explains how DNA methylation episignatures provide functional evidence of disease mechanism in rare genetic disorders, helping resolve ...
Rare Giant Lung Tumour With Suspected Liver Spread Challenges Diagnosis and Treatment
A case report describes a 57-year-old woman with a giant intrapulmonary solitary fibrous tumour exceeding 16 centimetres, complicated by suspected ...
One Gene, Four Very Different Fates: Rare Wolfram Syndrome Cases Reveal Family Puzzle
A Palestinian family case series shows four girls with the same homozygous WFS1 mutation developing strikingly different Wolfram syndrome features, ...
Rare Facial-Onset Nerve Disease Reveals Its Brain Footprint in Advanced MRI Study
Advanced MRI has revealed the first consistent brain signature of the ultra-rare neurological disorder FOSMN, showing brainstem atrophy and damage ...
Single Mutation, Many Faces: Study Maps Mitochondrial Disease in Chinese Children
A study of eleven Han Chinese children with the m.3243 A>G mitochondrial DNA mutation reveals striking phenotypic variability, a mean ...
Rare Castleman Disease Masquerading as Tuberculosis Finally Diagnosed as TAFRO Syndrome
A new case report describes a young man whose three-year illness, misdiagnosed as tuberculosis, was finally identified as idiopathic multicentric ...
New Web Tool Helps Geneticists Pick the Right CADD Score Threshold for Every Gene
Researchers in Berlin have launched CADD-ThresholdApp, a free interactive web tool that uses ClinVar data to help geneticists calibrate CADD ...
New Hunger Scale Puts Rare Obesity Diseases Under the Microscope
Researchers have validated a simple patient-reported hunger scale across four rare melanocortin 4 receptor pathway diseases, showing that patients share ...
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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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