3D Facial Scans Could Turn Swelling Into an Objective Biomarker for a Rare Disease
For people living with rare diseases, the road to a diagnosis is often measured in years. More than 10,000 distinct ...
Tag: rare diseases
One Gene, Three Diseases: NGLY1 Genotypes Drive Divergent Neuronal Trajectories
A head-to-head multi-omics comparison of patient-derived neurons from three distinct NGLY1 genotypes reveals divergent molecular routes converging on impaired network ...
When AI Forgets, Rare Diseases Pay the Price: New Audit Exposes Hidden Risks in Medical Model Maintenance
A new safety audit shows that machine unlearning in medical AI can silently degrade performance on rare diagnoses, and proposes ...
Editors Flag Concerns Over Fuzzy Logic Method for Ranking Orphan Drugs
PLOS One has issued an Expression of Concern on a 2024 multi-criteria decision-making paper after three of its cited references ...
Long Drives to Rare Disease Care Reveal Who Is Sickest in Italy
A large Italian registry study finds that patients with systemic sclerosis who travel farther for tertiary care have more severe ...
Rare Disease Hospitalizations Climb Steeply at a Major Chinese Regional Hospital
An eight-year study of 3,496 rare disease hospitalizations at a tertiary hospital in northern Henan reveals rising admission numbers, heavy ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Rare Disease Patients Tell Researchers Exactly What Digital Health Tools They Need Most
A mixed-methods study of 149 rare disease patients and caregivers identifies centralized health data, telehealth, patient-generated data, and emergency support ...
Rare Neurological Diseases in Children Are Rising Worldwide, First Global Analysis Finds
The first global assessment of rare neurological diseases in children finds rising prevalence and disability from 1990 to 2021, declining ...
Global Survey Reveals How Plasma Donors Transform Lives of Patients Worldwide
A new global survey of more than 1,100 patients, caregivers, and providers finds that 69 percent noticed health changes within ...
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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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