Hemophilia Care Model Informs Comprehensive Care Framework for Hereditary Angioedema
Researchers propose adapting hemophilia comprehensive care principles to establish multidisciplinary care centers and national registries for hereditary angioedema.
Tag: rare diseases
HAE Patients Show No Distinct Autonomic Stress Response
A study in BioPsychoSocial Medicine found no distinct physiological stress responses in hereditary angioedema patients compared to those with immune ...
Study Analyzes Pediatric Major Illness Patterns and Healthcare Disparities Across China
A spatial analysis of 13,112 platform-reported pediatric major-disease cases in mainland China reveals pronounced regional clustering, healthcare resource inequalities, and ...
French Survey Assesses Non-Reimbursed and Indirect Costs of Duchenne Muscular Dystrophy
A survey of 25 families in France found that non-reimbursed care and indirect costs for Duchenne muscular dystrophy averaged €104,144 ...
Declining fertility rates may reshape future hereditary angioedema case numbers
A new correspondence explores how falling total fertility rates and disease-specific factors may reduce future new cases of hereditary angioedema.
Nine European Countries, Divergent Verdicts: How Health Technology Assessment Shapes Access to Advanced Therapies
A review of nine European countries finds that only six of 22 licensed ATMPs were assessed by all national HTA ...
Gene Editing Moves Toward Common Diseases as Cardiologists Urge Stronger Safeguards
University of Michigan cardiologists propose a five-question clinical framework for deciding when permanent genomic therapies are justified as gene editing ...
RASopathies and ciliopathies may share a common ciliary root cause
A new perspective proposes that defective primary cilium function could be a shared mechanistic denominator linking RASopathies and ciliopathies.
Researchers propose master protocols for rare neurological disease trials
A collaborative publication argues that master protocol trials could make rare neurological disease research more efficient, but it does not ...
SYNGAP1 burden study will survey at least 125 U.S. caregivers
A planned U.S. study involving at least 125 SYNGAP1 caregivers will examine quality of life, caregiving, independence, education, employment and ...
Metabolic disorders mimic hereditary spastic paraplegia in Egyptian children
A cross-sectional study of 10 Egyptian children and adolescents found that inherited metabolic disorders can mimic hereditary spastic paraplegia and ...
NIH grant funds research linking metabolism and glycosylation in rare diseases
A five-year NIH award will support Greenwood Genetic Center research using zebrafish models to examine how metabolism and glycosylation jointly ...
Landmark Study Maps 406 Rare Diseases and COVID-19 Infection Across 62.5 Million People in England
A national analysis of 62.5 million English health records reveals that rare disease prevalence varies substantially across ethnic groups, with ...
Hidden medication dangers uncovered in older patients with rare diseases
A Bulgarian study combining systematic review with real-world analysis reveals that drug-related problems in geriatric patients with rare diseases are ...
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 ...
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 ...
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 ...
