Categoría: Noticias
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Hidden sex differences may explain why lupus strikes women far more often
Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a condition where the immune system misfires…
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One overlooked detail in cancer genomes is rewriting which mutations really matter
It’s a fundamental principle of science: Correlation does not equal causation. Every cancer cell has genetic mutations, but not all of those mutations necessarily drive the cancer.
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Blood protein study of 78,000 people uncovers disease mechanisms and drug repurposing leads
Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of London’s Precision Healthcare University Research Institute and Berlin Institute of Health (BIH) at Charité have led the world’…
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Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease
An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.
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Same genetic mutation, different clinical outcomes: Study shows why neurodevelopmental disorders vary so widely
Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only exhibit milder psychiatric f…
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Unmasking autism spectrum disorder through its gene-based roots
Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal social interactions, and rest…
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Complete remission of aggressive pituitary tumor achieved through immunotherapy
Researchers at the University of Cincinnati Gardner Neuroscience Institute’s Brain Tumor Center have been confirmed as the first in the world to achieve complete remission of a rare pituitary cancer using a novel immunotherapy treatment.
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Digital archive opens funding ‘black box’ behind genomics breakthroughs
A new digital archive developed by Northwestern scientists reveals how state-supported research funding agencies cooperate with the scientific community to decide to support scientific research projects and contribute to scientific innovation, as detai…
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How sugar fuels sight: Glucose metabolism linked to epigenetic and gene expression changes in the retina
National Eye Institute (NEI) scientists have found that the way the retina metabolizes glucose directly controls which genes get switched on and off in light-sensing photoreceptors. The findings suggest that metabolic disruptions seen in aging and dise…
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Many genes have been linked to autism—but a new study suggests it may be their path to the brain that matters
In recent years, scientists have identified hundreds of different genes associated with autism, a burst of discovery that has prompted a new and perplexing question: how can so many different genes produce the same or very similar outcomes in the brain?