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 ...
Tag: genomic medicine
Genomics Moves From Variant Discovery to Precision Diagnosis Across Rare and Common Disease
A sweeping editorial on a 2024–2025 research collection describes how long-read sequencing, newborn screening, population genomics, and functional studies are ...
Only a Small Fraction of Genetic Variants Ever Change Clinical Meaning, 13-Year Study Finds
A 13-year analysis of 3.68 million ClinVar variants found that only 0.68 percent ever crossed the clinically actionable boundary between ...
Nearly 1 million genomes reveal what an average human genome contains
An analysis of 879,461 adult genomes found approximately 4.3 million to 5.3 million small variants per person, alongside de novo ...
From First Breath to Lifelong Care: How Newborn Screening Is Being Rebuilt Around Every Child
The Society for Pediatric Research's 2026 Mary Ellen Avery Award recognizes Wendy Chung's work building population-scale newborn screening systems, from ...
New database turns lab-scale gene tests into clinical evidence for uncertain variants
A new interface called MaveMD translates large-scale variant effect experiments into calibrated clinical evidence, enabling classification of 75 percent of ...
Whole-Genome Sequencing Outperforms Panel and Exome Tests for Diagnosing Myopathies
A nationwide French study of 265 patients shows whole-genome sequencing achieved a 26 percent conclusive diagnostic yield in previously unresolved ...
Trio Exome Sequencing Reveals Genetic Clues to Autism in Rwandan Children
A trio-based whole-exome sequencing study of Rwandan children with autism has identified rare pathogenic and uncertain variants in nearly a ...
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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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