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.
Tag: rare diseases
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 ...
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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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