A paper published in the American Journal of Human Genetics proposes ATRIP gene variants as a breast cancer susceptibility gene candidate based on a study of women without any of the known breast cancer-associated gene variants.
The same genetics that helped some of our ancestors fight the plague is still likely to be at work in our bodies today, potentially providing some of the population with extra protection against respiratory diseases such ...
Mar 7, 2023
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Investigators have identified new genetic variations effecting gene expression in the liver cells of patients of African ancestry, findings that provide insight into how drugs are metabolized differently in different populations, ...
Feb 8, 2023
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Researchers are finding more genes directly associated with cleft lip and palate.
Jan 11, 2023
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National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first approach to clinical research, ...
Jan 5, 2023
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Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) ...
Dec 16, 2022
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Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, researchers from Germany and the ...
Dec 1, 2022
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A new study from the University of Helsinki demonstrates the added value of genetic information in measuring inherited disease risk, alongside the widely used assessment of family history.
Nov 8, 2022
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A national platform for diagnostic laboratories to share genetic evidence and build consistent interpretations of that information is paving the way for more accurate diagnosis of patient conditions.
Nov 4, 2022
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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