Retinal organoids provide a powerful tool to diagnose and study Leber congenital amaurosis
Leber Congenital Amaurosis (LCA) is an inherited retinal disease leading to severe vision impairment from early infancy, affecting…
AI model popEVE: Prioritizing genetic variants effectively
By combining deep evolutionary signals with human population data, the popEVE model provides a novel approach to identifying…
New method reveals how human cells initiate DNA replication
When cells proliferate, genomic DNA is precisely duplicated once per cell cycle. Abnormalities in this DNA replication process…
Gene variant linked to higher risk of chronic rejection after lung transplant
About one third of lung transplant recipients have a genetic variant that makes them more likely to develop…
Breakthrough platform reveals the choreography of mammalian transcription
Life’s instructions are written in DNA, but it is the enzyme RNA polymerase II (Pol II) that reads…
These archaea built a distinct genetic code to put pyrrolysine in proteins
 There are few hard and fast rules in the study of life, but perhaps the closest we…
Genetic signals reveal why erectile dysfunction develops and who is most at risk
New genomic evidence unmasks the biological pathways driving erectile dysfunction, linking cardiometabolic disease and addiction traits to ED…
New insights into ribosome collisions and stress response
LMU researchers uncover the mechanism by which ribosomes raise alarms in the cell. Ribosomes, the protein factories of…
Development of a polygenic risk score for pelvic organ prolapse in Chinese women
Pelvic organ prolapse (POP), a condition whose development is shaped by both genetic and clinical risk factors, significantly…
Discovery of sequence-driven DNA methylation offers new path for epigenetic engineering
All the cells in an organism have the exact same genetic sequence. What differs across cell types is…
UK Biobank releases the world’s largest metabolomic dataset for disease research
UK Biobank has today [Thursday 20 November] released the final set of data on nearly 250 metabolites – the molecules in our blood produced by…
Scientists uncover genetic components linked to bone density in young people
Researchers at Children’s Hospital of Philadelphia (CHOP) revealed important genetic components that affect bone density in children and…