Categoría: Articulos
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A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
Mok et al. identify a recurrent de novo missense variant, c.1126G>A (p.Glu376Lys), in BMPR2 in individuals presenting with neurodevelopmental symptoms. Using Drosophila functional assays, they show that this allele possesses ligand-independent, type-1-…
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The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
European Journal of Human Genetics, Published online: 21 September 2026; doi:10.1038/s41431-026-02241-4The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
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International experiences of genomic newborn screening: Lessons from over 10,800 newborns
This perspective summarizes early experiences from genomic newborn screening studies, totaling over 10,800 infants from the US, Belgium, and Australia. While these provide data on technical feasibility and likely volumes of screen-positive results, man…
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Social context matters when studying the genetics of social behavior
Social behavior is heritable but heterogeneous. A mother reporting on her toddler learning to share, a teacher observing a schoolchild navigating friendships and peer relations, and a teenager describing their own social relations are all examples of s…
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Social context matters when studying the genetics of social behavior
Social behavior is heritable but heterogeneous. A mother reporting on her toddler learning to share, a teacher observing a schoolchild navigating friendships and peer relations, and a teenager describing their own social relations are all examples of s…
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Two protective genetic pathways may converge to reduce Alzheimer’s disease risk
Alzheimer’s disease is the most common form of dementia worldwide. Although the APOE ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, not all carriers develop dementia, indicating that other genetic factors can modify …
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Two protective genetic pathways may converge to reduce Alzheimer’s disease risk
Alzheimer’s disease is the most common form of dementia worldwide. Although the APOE ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, not all carriers develop dementia, indicating that other genetic factors can modify …
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Base editing corrects mutation and slows motor neuron disease in mouse model
In a study published in Molecular Therapy Advances a team of researchers led by Professor Haruhisa Inoue (Center for iPS Cell Research and Application, Kyoto University) and Professor Yuishin Izumi (Tokushima University) demonstrate that adenine base e…
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Base editing corrects mutation and slows motor neuron disease in mouse model
In a study published in Molecular Therapy Advances a team of researchers led by Professor Haruhisa Inoue (Center for iPS Cell Research and Application, Kyoto University) and Professor Yuishin Izumi (Tokushima University) demonstrate that adenine base e…
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A tiny worm helps scientists unravel a genetic clue to kidney disease
A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease. By making a precise change in the roundworm’s DNA and following the proteins it produces, research…