Categoría: Noticias
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Family history raises breast cancer risk even when BRCA testing is negative
Women who test negative for BRCA gene mutations may still be at greater risk of developing breast cancer than the general population, according to a study led by Cedars-Sinai Health Sciences University investigators.
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NPTN gene changes linked to rare developmental disorders in eight children
For some families, the reason their child is not developing as expected remains unclear for a long time. Researchers at the Leibniz Institute for Neurobiology (LIN) in Magdeburg have now identified a genetic cause of a previously unexplained developmen…
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Gene editing tool reduces Huntington’s toxic protein fragments and symptoms in mice
A gene-editing tool designed to precisely rewrite the gene that causes Huntington’s disease reduced toxic protein fragments and symptoms associated with the disease in mice, researchers at the University of Illinois Urbana-Champaign report.
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A small mutation, a big impact: New findings on rare heart conditions
Cardiomyopathies are a group of mostly hereditary, rare heart diseases in which the structure of heart muscle tissue is impaired. This limits the heart’s pumping capacity, leading to shortness of breath, reduced exercise capacity and other typical symp…
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Genetic deletions may help explain differences in schizophrenia severity
Schizophrenia affects approximately 23 million people worldwide, with onset usually occurring during a person’s late adolescence or 20s. Impairments associated with schizophrenia include hallucinations, delusions, and disorganized thinking and behavior.
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Circadian gene variants offer new indicator of obesity risk in children
New research from the Guelph Family Health Study (GFHS) has found that circadian rhythm-related genes could influence the risk of obesity in children, highlighting an important connection between sleep and eating behavior.
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How brain cells restore healthy growth and connections after a disease-causing genetic deletion
Scientists at Virginia Tech’s Fralin Biomedical Research Institute at VTC have discovered how an experimental therapy can help brain cells overcome the effects of a disease-causing genetic deletion. Instead of repairing the deletion and its immediate c…
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New study reveals how blood cancers outsmart BTK-targeted therapies
Scientists at Sylvester Comprehensive Cancer Center, part of the University of Miami Miller School of Medicine, and collaborators have uncovered a rare genetic mutation that enables some blood cancers to evade both approved Bruton tyrosine kinase (BTK)…
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Vitamin B3 treatment may halt severity of rare genetic disease
Children with a rare and often fatal genetic condition may benefit from early treatment with vitamin B3, halting significant deterioration, according to a new study.
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Genetic risk factors of fibromyalgia identified in largest study of its kind
New genetic risk factors have been identified for fibromyalgia syndrome in a landmark study that involved scientists at King’s College London. The study, published in Nature Medicine, highlights how the nervous system plays an important role in the dev…