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 ...
Tag: rare disease
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 ...
Survey Reveals Why Many Patients Skip Treatment for Dangerous Swelling Attacks
A multinational survey of 225 physicians and over 1,100 patients with hereditary angioedema finds that perceived mild attack severity and ...
Single Genetic Change May Strike Twice in Rare Anemia Case, Long-Read Study Suggests
Long-read multi-omics sequencing of a severe GPI deficiency case has uncovered a candidate dual-effect variant that may simultaneously destabilize an ...
Rare Missing Lung Artery Discovered in Adult Coughing Up Blood
A 55-year-old man coughing up blood was found to have lived his whole life without a left pulmonary artery, a ...
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 ...
Explainable AI Outperforms Classical Statistics in Predicting Pediatric Achondroplasia Surgery
A multicenter study of 150 children with achondroplasia shows that an explainable stacked ensemble model outperformed classical penalized statistical methods ...
Hidden Lung Gene Mutation Behind Recurring Collapsed Lung Finally Identified
A 50-year-old woman with fifteen years of recurrent collapsed lungs was finally diagnosed with Birt-Hogg-Dubé syndrome after genetic sequencing revealed ...
Hidden RNA Switches Offer a New Way to Boost Genes in Rare Disease
Scientists have shown that removing hidden repressive elements from RNA messages with splice-switching antisense oligonucleotides can boost protein production from ...
Common Asthma Drug Shows Promise for Rare Childhood Muscle Diseases in Landmark Trial
A Swedish randomised crossover trial found that six months of oral salbutamol significantly improved motor function, muscle strength and respiratory ...
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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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