Categoría: Genetics
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Gene variants help explain why food allergies run in families
People often remark that allergies run in their family, but the genetic causes have remained unclear. Previous food allergy genetic research has relied upon broad but surface-level methods called genome-wide association studies.
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AI tool debuts with better genomic predictions and explanations
Artificial intelligence has taken the world by storm. In biology, AI tools called deep neural networks (DNNs) have proven invaluable for predicting the results of genomic experiments. Their usefulness has these tools poised to set the stage for efficie…
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Study splits schizophrenia genetic risk into two pathways, one shared with bipolar disorder
A new study by researchers at King’s College London has split schizophrenia risk into two genetically distinct pathways. One is characterized by a shared genetic risk with bipolar disorder and associated with higher educational attainment, and another …
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A genetic brake that forms our muscles: Variant linked to endurance may also raise odds of injury
In an international study, researchers at Lund University in Sweden have identified a gene variant that controls the body’s capability to form new blood vessels in muscles—a mechanism that affects physical performance, health and recovery. The favorabl…
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Aortic stenosis: 200 newly identified genes raise hope for future treatments
A new study on aortic stenosis, the most common form of heart valve disease, has identified more than 200 new genes that predispose individuals to this condition, for which no treatment currently exists. The discovery of these genes, some of which are …
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Studies show 11 genetic variants affect gut microbiome
In two new studies on 28,000 individuals, researchers are able to show that genetic variants in 11 regions of the human genome have a clear influence on which bacteria are in the gut and what they do there. Only two genetic regions were previously know…
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RNA is key to the dark matter of the genome. Scientists are sequencing it to illuminate human health and disease
Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come from?
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False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany and Australia now show that i…
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Cell and gene therapy across 35 years—a bibliometric analysis of global advances
Cell and gene therapies, or CGT, have come a long way since they were first introduced. In the last few decades, both cell therapy—the transplantation of living cells—and gene therapy—the use of genetic material to modify cell functions—have been incre…
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Mapping the role of a master regulator in early brain development
New findings from Karolinska Institutet reveal how the gene HNRNPU coordinates several fundamental molecular processes during the earliest stages of human brain development. The study is published in Nucleic Acids Research and helps explain why childre…
